Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
- Anemia
- Brain abscess
- Transient ischemic attack
- Cyanosis
- Dyspnea
- Hematemesis
- Hematochezia
- Hypertensive disorder
- Cirrhosis of liver
- Melena
- Polycythemia
- Seizure
- Subarachnoid hemorrhage
- Clubbing
- Migraine
- Conjunctival telangiectasia
- Spinal arteriovenous malformation
- Right-to-left shunt
- Hepatic arteriovenous malformation
- Gastrointestinal arteriovenous malformation
- Gastrointestinal angiodysplasia
- Facial telangiectasia
- Cerebral arteriovenous malformation
- Ischemic stroke
- Gastrointestinal telangiectasia
- Nail bed telangiectasia
- Pulmonary arteriovenous malformation
- Lip telangiectasia
- Palate telangiectasia
- Fingerpad telangiectases
- Cerebral hemorrhage
- Pulmonary arterial hypertension
- Choriocapillaris atrophy
- Spontaneous, recurrent epistaxis
- Palmar telangiectasia
- Nasal mucosa telangiectasia
- Oral cavity telangiectasia
- Tongue telangiectasia
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Autosomal dominant inheritance
Not provided
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
Citations
Not provided
Not provided
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