Osler–Weber–Rendu syndrome

Osler–Weber–Rendu syndrome (hereditary hemorrhagic telangiectasia; in English: hemorrhagic telangiectasia / Osler–Weber–Rendu syndrome) is an autosomal dominant inherited disorder associated with telangiectasias and arteriovenous malformations, most commonly presenting with nosebleeds (epistaxis). The disease is caused by vascular dysplasias (remodeling of the blood vessel wall), which have a tendency to bleed.

It may manifest as early as childhood, but most often appears during adolescence or by the age of 30. Vascular involvement may be found in the nasopharynx, brain, lungs, liver, spleen, urinary tract, gastrointestinal tract, arms, fingers, and other areas.

Diagnosis:
Diagnosis is traditionally based on the classic triad: epistaxis, telangiectasias, and a positive family history. A skin biopsy is sometimes performed to confirm the diagnosis. Since this is a hereditary disease, examination of family members is also necessary.

Treatment:
Therapy is mostly symptomatic and supportive. It is limited to local treatment of nosebleeds, blood transfusions, and administration of iron supplements. Antifibrinolytic agents are used to prevent mucosal bleeding. Electrocauterization and laser ablation of telangiectasias are also used in treatment. Lung involvement is managed individually. In cases of severe bleeding, surgical treatment of the affected organ may also be considered.

• epistaxis (nosebleeds) – affects approximately 95% of patients; may lead to anemia requiring blood transfusions
• telangiectasia (localized accumulation of dilated small blood vessels)
• locations: in the skin and mucous membranes – most commonly the lips, nose, and fingers
• organ involvement: lungs, kidneys, brain, spleen
• vomiting blood (hematemesis)
• black stools (melena; digested blood)
• anemia
• coughing up blood (hemoptysis)
• bluish discoloration of the lips and skin (cyanosis)
• headaches
• bleeding into the brain (intracerebral hemorrhage)
• fainting (syncope)
• chest pain
• formation of blood clots
• and many other manifestations depending on the location of the vascular malformations