Hereditary Hemorrhagic Telangiectasia

Aka: Hereditary Hemorrhagic Telangiectasia, Osler-Rendu-Weber Disease

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II. Definition

  1. Autosomal Dominant disorder of abnormal blood vessel formation

III. Epidemiology

  1. Prevalence: one in 5000 to 8000 persons

IV. Pathophysiology

  1. Autosomal Dominant inheritance
  2. Profuse Telangiectasias form throughout the body
    1. Number of lesions increases with age

V. Symptoms

  1. Profuse Hemorrhages
  2. Frequent Epistaxis (presenting concern in 90% of patients)

VI. Signs: Telangiectasias

  1. Bright red elevated Telangiectasias on skin and nose and Gastrointestinal Tract
    1. Blanch with pressure
  2. Distribution
    1. Most common on face (esp. lips and Tongue), chest and hands

VII. Labs

  1. Coagulation Factors
    1. Normal
  2. Complete Blood Count
    1. Iron Deficiency Anemia
    2. Start screening by age 35 years
  3. Consider Genetic Testing in those with Family History
    1. First test the known case patient in family to determine if they carry an identified genetic marker
    2. Negative testing for the family members specific genetic defect excludes the condition and requires no further testing

VIII. Imaging

  1. MRI Brain
    1. Evaluate for intracranial Arteriovenous Malformation
  2. Contrast Echocardiography (bubble Echocardiography)
    1. Evaluate for intracranial Arteriovenous Malformation
    2. If positive screening, pursue CT Angiogram to localize the AV Malformations
    3. Rescreen every 3-5 years
  3. Consider Abdominal MRI, CT or RQ Ultrasound
    1. Screen only for those with Gastrointestinal Bleeding or other signs suggesting possible hepatic involvement
    2. Evaluate for hepatic Arteriovenous Malformation or focal nodular hyperplasia

IX. Associated Conditions

  1. Juvenile polyposis syndrome
  2. Primary Pulmonary Hypertension

X. Complications

  1. Pulmonary Arteriovenous Malformation (15-30% of patients)
    1. Risk of right to left shunt with risk of Hypoxemia
    2. High risk of Pulmonary Hemorrhage during pregnancy
  2. Intracranial Arteriovenous Malformation (10% of patients)
    1. Associated with Seizures, Headaches and Intracranial Hemorrhage
  3. Hepatic Arteriovenous Malformation
    1. Associated risk of Portal Hypertension, high output cardiac failure and biliary disease

XI. Diagnosis: Requires 3 of 4 criteria

  1. Epistaxis
  2. Telangiectasias
  3. Visceral Arteriovenous Malformation
  4. Family History of Hereditary Hemorrhagic Telangiectasia

XII. Management:

  1. Iron Deficiency Anemia management
  2. Recurrent Epistaxis management
    1. See Epistaxis
    2. Topical Estrogen
    3. Laser coagulation of Telangiectasia
    4. Septal dermoplasty
    5. Complete nasal closure (Youngs procedure)
    6. Embolization for acute, severe and refractory Epistaxis
    7. Experimental use of Vascular Endothelial Growth Factor
  3. Pulmonary Arteriovenous Malformation
    1. Antibiotic prophylaxis in dental work, endoscopy or procedures
      1. Indicated in known Pulmonary AVM (or unscreened patients)
    2. Embolization with coils
      1. Indicated for AVM of 3 mm or greater
    3. Intravenous lines should always have air filters
    4. No Scuba Diving
  4. Gastrointestinal Bleeding
    1. Laser therapy with endoscopy
    2. Experimental use of Thalidomide
  5. Cerebral Arteriovenous Malformation
    1. Embolization or neurosurgery

XIII. References

  1. Olitsky (2010) Am Fam Physician 82(7): 785-90 [PubMed]

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Related Studies

Ontology: Hereditary hemorrhagic telangiectasia (C0039445)

Definition (MSHCZE) Autozomálně-dominantně dědičné onemocnění manifestující se četnými teleangiektaziemi kůže a sliznic rtů, nosní a ústní sliznice, sliznice trávicího traktu, bronchů, vývodných cest močových aj. Projevuje se nejčastěji epistaxí, často však též hematemezou a přítomností krve ve stolici a v moči. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (NCI) An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.
Definition (MSH) An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Concepts Disease or Syndrome (T047)
MSH D013683
ICD9 448.0
ICD10 I78.0
SnomedCT 266324004, 155449008, 21877004
English Hemorrhagic Telangiectasia, Hereditary, Osler Rendu Disease, Osler-Rendu Disease, Telangiectasia, Hereditary Hemorrhagic, HHT - Hered haem telangiect, Hered haemorrhagic telangiect, Hered hemorrhagic telangiect, HEREDITARY HEMORRHAGIC TELANGIECTASIA, ORW DISEASE, HHT1, OSLER-RENDU-WEBER DISEASE, HHT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, OSLER RENDU DIS, Osler Rendu Weber Disease, OSLER RENDU WEBER DIS, Osler-Rendu-Weber Disease, hereditary hemorrhagic telangiectasia, hereditary hemorrhagic telangiectasia (diagnosis), hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber), Rendu-Osler-Weber syndrome, Heredit hemorr telangiec, Osler-Weber-Rendu Syndrome, Osler Weber Rendu Syndrome, Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler, Rendu-Osler-Weber disease, Telangiectasia, Hereditary Hemorrhagic [Disease/Finding], osler's disease, rendu-osler-weber syndrome, osler rendus syndrome weber, osler weber rendu, osler weber rendu disease, disease osler weber rendu, hht, osler rendu syndrome weber, osler-weber-rendu syndrome, rendu osler disease, disease rendu-osler-weber, rendu osler weber, rendu weber osler disease, osler weber rendu syndrome, rendu osler weber syndrome, osler-weber-rendu disease, rendu osler weber disease, osler rendu weber, osler-rendu-weber syndrome, rendu weber osler, rendu-osler-weber disease, Telangiectasia, Hereditary Hemorrhagic, Type 1, Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, Osler's Disease, Weber-Osler, Hereditary Hemorrhagic Telangiectasia, Weber Osler, Rendu Osler Weber, Osler Disease, Rendu-Osler-Weber, Disease, Osler's, Osler-Weber-Rendu disease, Osler hemorrhagic telangiectasia syndrome, Osler's disease, HHT - Hereditary haemorrhagic telangiectasia, HHT - Hereditary hemorrhagic telangiectasia, Hereditary haemorrhagic telangiectasia, Osler haemorrhagic telangiectasia syndrome, Osler-Rendu-Weber disease, Osler-Rendu-Weber syndrome, Osler hemorrhagic telangiectasia syndrome (disorder), Osler-Rendu, hemorrhagic; telangiectasia, telangiectasia; hemorrhagic, Synonym deleted refer to DC-F4801, Hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu Disease
Italian Teleangectasia emorragica ereditaria, Teleangiectasia ereditaria emorragica, Malattia di Osler-Weber-Rendu, Sindrome di Rendu-Osler-Weber, Sindrome di Osler-Rendu-Weber, Malattia di Osler-Rendu, Telangectasia emorragica ereditaria
Dutch erfelijke hemorragische teleangiëctasie, syndroom van Rendu-Osler-Weber, ziekte van Osler-Weber-Rendu, HHT, hemorragisch; teleangiëctasie, teleangiëctasie; hemorragisch, hemorragische teleangiëctasie, erfelijk, Rendu-Osler, ziekte van, Hereditaire hemorragische teleangiëctasie, Teleangiëctasie, hemorragische, hereditaire, Teleangiëctasie, hereditaire hemorragische
French Maladie d'Osler-Weber-Rendu, Angiomatose de Rendu-Oslo, THH, Télangiectasie héréditaire hémorragique, Angiomatose de Rendu-Osler, Maladie de Rendu-Osler, Angiomatose hémorragique familiale, Télangiectasie hémorragique héréditaire
German Osler-Weber-Rendu Syndrom, HHT, Rendu-Osler-Weber Syndrom, Hereditaere haemorrhagische Teleangiektasie, hereditaere haemorrhagische Teleangiektasie, Morbus Osler, Osler-Rendu-Syndrom, Teleangiectasia hereditaria haemorrhagica, Osler-Krankheit
Portuguese Síndrome de Rendu-Osler-Weber, Doença de Osler-Weber-Rendu, Telangiectasia hemorrágica hereditária, Doença de Osler-Rendu, Telangiectasia Hemorrágica Hereditária
Spanish THH, Síndrome de Rendu-Osler-Weber, Enfermedad de Rendu-Osler-Weber, enfermedad de Osler - Weber - Rendu, enfermedad de Osler, síndrome de telangiectasia hemorrágica de Osler (trastorno), síndrome de telangiectasia hemorrágica de Osler, telangiectasia hemorrágica hereditaria, Telangiectasia hemorrágica hereditaria, Enfermedad de Osler-Rendu, Telangiectasia Hemorrágica Hereditaria
Japanese オースラー・ウェーバー・ランデュ病, ｵｰｽﾗｰｳｪｰﾊﾞｰﾗﾝﾃﾞｭﾋﾞｮｳ, ｵｽﾗｰﾋﾞｮｳ, ｲﾃﾞﾝｾｲｼｭｯｹﾂｾｲﾓｳｻｲｹｯｶﾝｶｸﾁｮｳｼｮｳ, オスラー･ランデュ･ウェーバー病, ランデュ･オスラー･ウェーバー病, オスラー･ランデュ･ウェーバー症候群, ランデュ･オスラー･ウェーバー症候群, ランデュ･オスラー･ウェバー病, Osler病, 毛細血管拡張症-遺伝性出血性, Osler-Rendu病, オスラー病, 末梢血管拡張症-遺伝性出血性, 遺伝性出血性末梢血管拡張, 遺伝性出血性末梢血管拡張症, 遺伝性出血性毛細血管拡張, 遺伝性出血性毛細血管拡張症, Osler-Rendu-Weber病, Osler-Rendu-Weber症候群, Rendu-Osler-Weber病, Rendu-Osler-Weber症候群, オスラー-ランデュ-ウェーバー病, オスラー-ランデュ-ウェーバー症候群, ランデュ-オスラー-ウェーバー病, ランデュ-オスラー-ウェーバー症候群
Swedish Telangiektasi, ärftlig hemorragisk
Finnish Perinnöllinen verenvuotoinen teleangiektasia
Russian OSLERA-RANDIU SINDROM, ANGIOMA NASLEDSTVENNAIA GEMORRAGICHESKAIA, RANDIU-VEBERA-OSLERA BOLEZN', OSLERA BOLEZN', TELEANGIEKTAZIIA NASLEDSTVENNAIA GEMORRAGICHESKAIA, АНГИОМА НАСЛЕДСТВЕННАЯ ГЕМОРРАГИЧЕСКАЯ, ОСЛЕРА БОЛЕЗНЬ, ОСЛЕРА-РАНДЮ СИНДРОМ, РАНДЮ-ВЕБЕРА-ОСЛЕРА БОЛЕЗНЬ, ТЕЛЕАНГИЭКТАЗИЯ НАСЛЕДСТВЕННАЯ ГЕМОРРАГИЧЕСКАЯ
Czech Hereditární hemoragická teleangiektázie, Osler-Weber-Renduova nemoc, HHT (Hereditární hemoragická teleangiektázie), Osler-Weber-Rendu syndrom, morbus Osler-Weber-Rendu, Oslerova-Renduova-Weberova nemoc, Rendu-Osler-Weberova choroba, Renduova-Oslerova-Weberova choroba, Renduova-Oslerova-Weberova nemoc, teleangiectasia hereditaria haemorrhagica, dědičná hemoragická teleangiektazie, hereditární hemoragická teleangiektazie Rendu-Osler, morbus Rendu-Osler-Weber, hereditární hemoragická teleangiektazie, Renduova-Oslerova nemoc, hemoragická hereditární teleangiektázie, morbus Rendu-Osler, teleangiektazie dědičná hemoragická
Korean 유전성 출혈성 모세혈관확장증
Polish Teleangiektazja dziedziczna krwotoczna, Choroba Rendu-Oslera
Hungarian Rendu-Osler-Weber syndroma, Öröklött haemorrhagiás telangiectasia, Osler-Weber-Rendu-betegség, Veleszületett haemorrhagiás telangiectasia, HHT
Norwegian Hereditær hemoragisk telangiektasi, Morbus Osler, Oslers sykdom, Oslers syndrom, Weber-Rendus syndrom, Osler-Weber-Rendus syndrom, Arvelig hemoragisk teleangiektasi
Derived from the NIH UMLS (Unified Medical Language System)

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