Кіріспе
Медициналық жағдай (генетикалық бұзылу)
Medical condition (genetic disorder)
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Тұқым қуалайтын геморрагиялық телеангиэктазия (ТГТ), сондай-ақ Ослер-Вебер-Ренду ауруы және Ослер-Вебер-Ренду синдромы деп аталады, – бұл сирек кездесетін аутосомалық доминантты генетикалық бұзылу, ол теріде, шырышты қабықтарда және көбінесе өкпе, бауыр және ми сияқты органдарда қалыпты емес қан тамырларының пайда болуына әкеледі. Тері зақымдануы әдетте еріндерде, мұрында және саусақтарда, сондай-ақ күн сәулесіне ұшыраған жерлерде бет терісінде болады. Олар кенеттен пайда болады және саны уақыт өте келе артады. Өкпедегі АВМ-нан қан кету сирек кездеседі, бірақ қан құсу (гемоптиз) немесе көкше қуысында қан жиналуы (гемоторакс) болуы мүмкін. Егер АВМ порталды вена мен бауырдағы қан тамырларының арасында байланыс жасаса, порталды гипертензия (порталды вена қысымының жоғарылауы) пайда болуы мүмкін, онда асқазан-ішек жолында қосалқы қан тамырлары пайда болады (асқазан варикозы), олар қатты қан кетуі мүмкін; сонымен қатар, қысымның жоғарылауы іш қуысында сұйықтық жинақталуына (асцит) әкелуі мүмкін. Егер АВМ-дегі ағын басқа бағытта болса, порталды веналық қан бауыр арқылы емес, тікелей тамырларға ағады; бұл бауыр энцефалопатиясына (сандық бұзылыстарға) әкелуі мүмкін, өйткені порталды қалдықтар миды тітіркендіреді. Сирек жағдайда өт жолдары қансыз қалады, бұл ауыр холангитке (өт жолдарының қабынуы) әкеледі. Гомозигоздық аналық құрсақта өлімге әкеледі. Жалпы алғанда 600-дан астам әр түрлі мутациялар белгілі. Белгілі бір популяцияларда екі түрдің де басымдығы болуы мүмкін, бірақ деректер қарама-қайшы. ТГТ-ге қоса колониялық полипозды тудыратын MADH4 мутациялары ауруды тудыратын мутациялардың шамамен 2% -ын құрайды. MADH4-тен басқа, ENG және ACVRL1-дегі мутациялар белгілі бір симптомдарға әкелетін- әкетпейтіндігі анық емес. Frameshift мутацияларының жоғары үлесі байқалды.
Medical condition (genetic disorder)
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
| HHT3 |
| Белгісіз |
| Функциясы белгісіз, байланысы 2005 жылы анықталды. |
| HHT4 |
| Белгісіз |
| 7p14. Функциясы белгісіз, 2006 жылы анықталды. |
| JPHT |
| MADH4 |
| 18q21.1 |
| MADH4 SMAD4-ті кодтайды, ол TGF рецепторлар суперотбасы үшін жасушалық сигналды беретін белок. Бұл гендегі мутациялар ТГТ және жасөспірімдер полипозын тудырады. Байланыс 2004 жылы анықталды. Көбінесе 8–11 экзондарындағы мутациялар, көбінесе de novo (жаңадан алынған, мұрагерлік емес). Жалпы, МРТ ұсынылады. Егер үш немесе төрт белгі кездессе, науқастың "анық ТГТ" бар, ал екеуі "мүмкін ТГТ" дегенді білдіреді:
Medical condition (genetic disorder)
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
* Өздігінен қайталанатын мұрын қан кетуі
* Типтік жерлерде бірнеше телеангиэктазиялар (жоғарыда қараңыз)
* Дәлелденген висцеральді АВМ (өкпе, бауыр, ми, омыртқа)
* ТГТ-мен бірінші дәрежелі туысқан
Medical condition (genetic disorder)
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
"Мүмкін" деген атауға қарамастан, висцеральді АВМ және отбасы тарихы бар, бірақ мұрыннан қан кету немесе телеангиэктазиялар жоқ адамда ТГТ болуы өте мүмкін, өйткені бұл АВМ жалпы халық арасында өте сирек кездеседі. Сонымен қатар, мұрыннан қан кету және аздап телеангиэктазия туралы да осылай деуге болмайды, бұл екеуі де АВМ болмаған жағдайда, ТГТ жоқ адамдарда кездеседі. Адамның диагностикалық жағдайы өмір бойы өзгеруі мүмкін, өйткені жас балалар әлі барлық симптомдарды көрсете алмайды; 16 жаста он үш пайызы әлі белгісіз, ал 60 жаста басым көпшілігі (99%) нақты диагностикалық сыныптамаға ие. Сондықтан, ТГТ ауруы бар пациенттердің балалары "мүмкін ТГТ" деп белгіленуі мүмкін, өйткені 50% өмір бойы ТГТ болуы мүмкін. Мұрыннан жиі қан кетуді мұрынды ылғалды ұстап, тұщы ерітінді, эстрогенді кремдер немесе транэксамиялық қышқыл қолдану арқылы алдын алуға болады; бұлардың жанама әсерлері аз және аз пайдасы бар. Екі хирургиялық әдіс бар: біріншісі – мұрынның ішіне тері трансплантациясы, екіншісі – Янгтың әдісі, онда мұрын толығымен жабылады. Процедура үлкен тамырды тесуді (әдетте жалпы анестезиямен), содан кейін оң жақ қарынша арқылы және өкпе артериясына катетерді енгізуді, содан кейін АВМ-ді (өкпе ангиографиясын) көру үшін радиоконтраст инъекцияланады. Зақымдану анықталғаннан кейін, қан ағынын бөгейтін және зақымданудың регрессиясына мүмкіндік беретін орамдар орналастырылады. Тәжірибелі мамандарда бұл процедура өте тиімді және аздап жанама әсері бар, бірақ зақымданулар қайталануы мүмкін және қосымша әрекеттер қажет болуы мүмкін. Қайталануын бақылау үшін КТ ангиографиясын қайталау керек. Мысалы, VEGF антиденесі бевацизумаб бірнеше зерттеулерде белгісіз қолданылған. Үлкен клиникалық зерттеуде бевацизумаб инфузиясы жүректің қуаттылығының төмендеуімен және емделген ТГТ пациенттерінде мұрын қан кету эпизодтарының ұзақтығы мен санының азаюымен байланысты болды. Талидомид, тағы бір антиангиогенездік препарат, ТГТ пациенттерінде де пайдалы әсерге ие екені хабарланды. Талидомидтің емдеуі ТГТ-нің егеуқырлық модельінде тамырлардың жетілуіне әкелді және ТГТ пациенттерінің шағын тобында мұрын қан кетуінің ауырлығы мен жиілігін азайтты. Емделген пациенттердің қан гемоглобинінің деңгейі қан кетудің азаюы және қан тамырларының тұрақтандырылуы нәтижесінде көтерілді.
Medical condition (genetic disorder)
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. The skin lesions characteristically occur on the lips, the nose and the fingers, and on the skin of the face in sun exposed areas. They appear suddenly, with the number increasing over time. Bleeding from lung AVMs is relatively unusual, but may cause hemoptysis (coughing up blood) or hemothorax (blood accumulating in the chest cavity). If the AVM creates a connection between the portal vein and the blood vessels of the liver, the result may be portal hypertension (increased portal vein pressure), in which collateral blood vessels form in the esophagus (esophageal varices), which may bleed violently; furthermore, the increased pressure may give rise to fluid accumulation in the abdominal cavity (ascites). If the flow in the AVM is in the other direction, portal venous blood flows directly into the veins rather than running through the liver; this may lead to hepatic encephalopathy (confusion due to portal waste products irritating the brain). Rarely, the bile ducts are deprived of blood, leading to severe cholangitis (inflammation of the bile ducts). Homozygosity appears to be fatal in utero. A total of over 600 different mutations are known. There is likely to be a predominance of either type in particular populations, but the data are conflicting. MADH4 mutations, which cause colonic polyposis in addition to HHT, comprise about 2% of disease causing mutations. Apart from MADH4, it is not clear whether mutations in ENG and ACVRL1 lead to particular symptoms, A high proportion of frameshift mutations has been observed. |
| HHT3
|
| Unknown
| 5q31
| Function unknown, linkage identified in 2005. |
| HHT4
|
| Unknown
| 7p14. | Function unknown, linkage identified in 2006. |
| JPHT
|
| MADH4
| 18q21.1
| MADH4 codes for SMAD4, an intracellular signalling protein for the TGF superfamily receptors. Mutations in this gene cause HHT and juvenile polyposis. Linkage was identified in 2004. Mutations mostly in exons 8–11, often de novo (newly acquired, not inherited). In general, MRI is recommended. If three or four are met, a patient has "definite HHT", while two gives "possible HHT":
Spontaneous recurrent epistaxis
Multiple telangiectasias in typical locations (see above)
Proven visceral AVM (lung, liver, brain, spine)
First degree family member with HHT
Despite the designation "possible", someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population. At the same time, the same cannot be said of nosebleeds and sparse telangiectasias, both of which occur in people without HHT, in the absence of AVMs. Someone's diagnostic status may change in the course of life, as young children may not yet exhibit all the symptoms; at age 16, thirteen percent are still indeterminate, while at age 60 the vast majority (99%) have a definite diagnostic classification. The children of established HHT patients may therefore be labeled as "possible HHT", as 50% may turn out to have HHT in the course of their life. Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. in which skin is transplanted into the nostrils, and the other is Young's procedure, in which the nostrils are sealed off completely. The procedure involves puncture of a large vein (usually under a general anesthetic), followed by advancing of a catheter through the right ventricle and into the pulmonary artery, after which radiocontrast is injected to visualize the AVMs (pulmonary angiography). Once the lesion has been identified, coils are deployed that obstruct the blood flow and allow the lesion to regress. In experienced hands, the procedure tends to be very effective and with limited side effects, but lesions may recur and further attempts may be required. CTA scans are repeated to monitor for recurrence. The anti VEGF antibody bevacizumab, for instance, has been used off label in several studies. In a large clinical trial, bevacizumab infusion was associated with a decrease in cardiac output and reduced duration and number of episodes of epistaxis in treated HHT patients. Thalidomide, another anti angiogenesis drug, was also reported to have beneficial effects in HHT patients. Thalidomide treatment was found to induce vessel maturation in an experimental mouse model of HHT and to reduce the severity and frequency of nosebleeds in the majority of a small group of HHT patients. The blood hemoglobin levels of these treated patients rose as a result of reduced hemorrhage and enhanced blood vessel stabilization.
Эпидемиология
Әлемнің көптеген аймақтарындағы халықты зерттеулер HHT барлық халықтарда шамамен бірдей жиілікпен кездесетінін көрсетті: шамамен 5000 адамның біреуінде. Кейбір аймақтарда бұл ауру жиірек кездеседі; мысалы, Францияның Оң Жура (Haut Jura) аймағында бұл көрсеткіш 1:2351 – басқа халықтарға қарағанда екі есе көп. Бұл құрылтайшы әсерімен түсіндіріледі, онда аз ғана ата-бабадан тараған халықта белгілі бір генетикалық белгінің жоғары деңгейі болады, себебі осы ата-бабалардың бірінде осы белгі болған. Бенджамин Гай Бэббингтон (1794–1866) және Джон Уикхэм Легг (1843–1921) HHT-ның ең көп таралған белгілерін, әсіресе қайталанатын мұрын қан кетуін және аурудың тұқым қуалайтын сипатын сипаттады. Француз дәрігері Анри Жюль Луи Мари Ренду (1844–1902) тері мен шырышты қабықтың зақымдануын байқады және бұл жағдайды гемофилиядан ажыратты. Канадада туған сэр Уильям Ослер (1849–1919), содан кейін Джонс Хопкинс ауруханасында, кейін Оксфорд университетінде 1901 жылы асқазан-ішек жолындағы сипаттамалық зақымдануларды сипаттаған есеп жариялады. Ағылшын дәрігері Фредерик Паркс Вебер (1863–1962) 1907 жылы осы жағдай туралы бірнеше жағдайды хабарлады. "Тұқым қуалайтын геморрагиялық телангиэктазия" терминін алғаш рет американдық дәрігер Фредерик М. Ханес (1883–1946) 1909 жылғы мақаласында қолданды. 1994 және 1996 жылдары Дьюк университетінің медициналық орталығындағы зерттеу тобы HHT-қа себеп болатын генетикалық ақауларды анықтағанға дейін HHT диагнозы клиникалық қою болып келді. 2000 жылы cureHHT халықаралық ғылыми кеңес комитеті (бұрын HHT Foundation International деп аталған) қазір кеңінен қолданылатын Кюрасао критерийлерін жариялады. 2006 жылы Канадада халықаралық сарапшылар тобы cureHHT демеушілігімен дәлелдерге негізделген нұсқаулық жасады. Бұл нұсқаулық 2020 жылы жаңартылды және оны осында табуға болады.
Population studies from numerous areas in the world have shown that HHT occurs at roughly the same rate in almost all populations: somewhere around 1 in 5000. In some areas, it is much more common; for instance, in the French region of Haut Jura the rate is 1:2351 twice as common as in other populations. This has been attributed to a founder effect, in which a population descending from a small number of ancestors has a high rate of a particular genetic trait because one of these ancestors harbored this trait. and followed by Benjamin Guy Babington (1794–1866) and John Wickham Legg (1843–1921), described the most common features of HHT, particularly the recurrent nosebleeds and the hereditary nature of the disease. The French physician Henri Jules Louis Marie Rendu (1844–1902) observed the skin and mucosal lesions, and distinguished the condition from hemophilia. The Canadian born Sir William Osler (1849–1919), then at Johns Hopkins Hospital and later at Oxford University, made further contributions with a 1901 report in which he described characteristic lesions in the digestive tract. The English physician Frederick Parkes Weber (1863–1962) reported further on the condition in 1907 with a series of cases. The term "hereditary hemorrhagic telangiectasia" was first used by the American physician Frederic M. Hanes (1883–1946) in a 1909 article on the condition. The diagnosis of HHT remained a clinical one until the genetic defects that cause HHT were identified by a research group at Duke University Medical Center, in 1994 and 1996 respectively. In 2000, the international scientific advisory committee of cureHHT formerly called the HHT Foundation International published the now widely used Curaçao criteria. In 2006, a group of international experts met in Canada and formulated an evidence based guideline, sponsored by cureHHT. This guideline has since been updated in 2020 and can be found here.