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• Bleeding Due to Abnormal Blood Vessels
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Hereditary hemorrhagic telangiectasia is a hereditary disorder of vascular malformation transmitted as an autosomal dominant trait affecting men and women.

Symptoms and Signs

The most characteristic lesions are small red-to-violet telangiectatic lesions on the face, lips, oral and nasal mucosa, and tips of the fingers and toes. Similar lesions may be present throughout the mucosa of the GI tract, resulting in recurrent GI bleeding. Patients may experience recurrent, profuse nosebleeds. Some patients have pulmonary arteriovenous fistulas. These fistulas may cause significant right-to-left shunts, which can result in dyspnea, fatigue, cyanosis, or polycythemia. However, the first sign of their presence may be a brain abscess, transient ischemic attack, or stroke as a result of infected or noninfected emboli. Cerebral or spinal arteriovenous malformations occur in some families and may cause subarachnoid hemorrhage, seizures, or paraplegia.

Hereditary Hemorrhagic Telangiectasia

Diagnosis

• Clinical evaluation
• Sometimes endoscopy or angiography

Diagnosis is based on the finding of characteristic arteriovenous malformations on the face, mouth, nose, and digits. Endoscopy or angiography is sometimes needed, however. Laboratory findings are usually normal except for iron deficiency anemia in most patients.

Screening: If a family history of pulmonary or cerebral arteriovenous malformations exists, screening at puberty and at the end of adolescence with pulmonary CT or cerebral MRI is recommended.

Treatment

• Sometimes laser ablation, surgical resection, or embolotherapy
• Supplemental iron therapy
• Possibly blood transfusions

Treatment for most patients is supportive, but accessible telangiectases (eg, in the nose or GI tract via endoscopy) may be treated with laser ablation. Arteriovenous fistulas may be treated by surgical resection or embolotherapy. Repeated blood transfusions may be needed; therefore, immunization with hepatitis B vaccine is important. Most patients require continuous iron therapy to replace iron lost in repeated mucosal bleeding; some patients require parenteral iron (see Anemias Caused by Deficient Erythropoiesis: Iron Deficiency Anemia). Treatment with drugs that inhibit fibrinolysis, such as aminocaproic acidSome Trade Names
AMICAR
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, may be beneficial.

Last full review/revision April 2009 by James N. George, MD

Content last modified April 2009