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Congenital hemorrhagic telangiectasia (Randu-Osler-Weber syndrome)
Medical expert of the article
Last reviewed: 07.07.2025
[ Symptoms of congenital hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
The most characteristic lesions are small red-violet telangiectasias on the face, lips, nasal and oral mucosa, fingertips, and toes. Similar lesions may be present on the gastrointestinal mucosa, causing recurrent bleeding. Patients have frequent profuse epistaxis. Some patients have pulmonary arteriovenous fistulas. These fistulas result in significant right-to-left shunting, which may cause dyspnea, weakness, cyanosis, and polycythemia. However, the first signs are usually brain abscesses, transient ischemic attacks, or stroke due to infected or uninfected emboli. In some families, cerebral or spinal telangiectasias occur, which may cause subarachnoid hemorrhage, seizures, or paraplegia.
The diagnosis is based on the detection of characteristic arteriovenous abnormalities in the face, mouth, nose, and gums. Endoscopy or angiography is sometimes necessary. If there is a family history of pulmonary or cerebral disorders, CT of the lungs and MRI of the head are recommended during puberty or late adolescence. Laboratory studies are usually normal, with the exception of iron deficiency in most patients.
Treatment of congenital hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
Treatment for most patients is supportive, but accessible telangiectasias (eg, in the nose or gastrointestinal tract during endoscopy) may be treated with laser ablation. Arteriovenous fistulas may be treated with surgical resection or embolization. Because of the need for repeated blood transfusions, immunization with hepatitis B vaccine is important. Many patients require long-term iron therapy to replace losses from repeated mucosal bleeding. Some patients require parenteral iron. Fibrinolysis-inhibiting agents such as aminocaproic acid may be effective.