II. Definition
- Autosomal Dominant disorder of abnormal blood vessel formation
III. Epidemiology
- Prevalence: one in 5000 to 8000 persons
IV. Pathophysiology
- Autosomal Dominant inheritance
- Profuse Telangiectasias form throughout the body
- Number of lesions increases with age
V. Symptoms
- Profuse Hemorrhages
- Frequent Epistaxis (presenting concern in 90% of patients)
VI. Signs: Telangiectasias
- Bright red elevated Telangiectasias on skin and nose and Gastrointestinal Tract
- Blanch with pressure
- Distribution
- Most common on face (esp. lips and Tongue), chest and hands
VII. Labs
-
Coagulation Factors
- Normal
-
Complete Blood Count
- Iron Deficiency Anemia
- Start screening by age 35 years
- Consider Genetic Testing in those with Family History
- First test the known case patient in family to determine if they carry an identified genetic marker
- Negative testing for the family members specific genetic defect excludes the condition and requires no further testing
VIII. Imaging
-
MRI Brain
- Evaluate for intracranial Arteriovenous Malformation
- Contrast Echocardiography (bubble Echocardiography)
- Evaluate for intracranial Arteriovenous Malformation
- If positive screening, pursue CT Angiogram to localize the AV Malformations
- Rescreen every 3-5 years
- Consider Abdominal MRI, CT or RQ Ultrasound
- Screen only for those with Gastrointestinal Bleeding or other signs suggesting possible hepatic involvement
- Evaluate for hepatic Arteriovenous Malformation or focal nodular hyperplasia
IX. Associated Conditions
- Juvenile polyposis syndrome
- Primary Pulmonary Hypertension
X. Complications
- Pulmonary Arteriovenous Malformation (15-30% of patients)
- Risk of right to left shunt with risk of Hypoxemia
- High risk of Pulmonary Hemorrhage during pregnancy
- Intracranial Arteriovenous Malformation (10% of patients)
- Associated with Seizures, Headaches and Intracranial Hemorrhage
- Hepatic Arteriovenous Malformation
- Associated risk of Portal Hypertension, high output cardiac failure and biliary disease
XI. Diagnosis: Requires 3 of 4 criteria
- Epistaxis
- Telangiectasias
- Visceral Arteriovenous Malformation
- Family History of Hereditary Hemorrhagic Telangiectasia
XII. Management:
- Iron Deficiency Anemia management
- Recurrent Epistaxis management
- See Epistaxis
- Topical Estrogen
- Laser coagulation of Telangiectasia
- Septal dermoplasty
- Complete nasal closure (Youngs procedure)
- Embolization for acute, severe and refractory Epistaxis
- Experimental use of Vascular Endothelial Growth Factor
- Pulmonary Arteriovenous Malformation
- Antibiotic prophylaxis in dental work, endoscopy or procedures
- Indicated in known Pulmonary AVM (or unscreened patients)
- Embolization with coils
- Indicated for AVM of 3 mm or greater
- Intravenous lines should always have air filters
- No Scuba Diving
- Antibiotic prophylaxis in dental work, endoscopy or procedures
-
Gastrointestinal Bleeding
- Laser therapy with endoscopy
- Experimental use of Thalidomide
-
Cerebral Arteriovenous Malformation
- Embolization or neurosurgery