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Angiomatosis hereditary familial hemorrhagic: causes, symptoms, diagnosis, treatment
Medical expert of the article
Last reviewed: 07.07.2025
Hereditary familial hemorrhagic angiomatosis
Synonyms: hereditary hemorrhagic telangiectasia, Osler-Rendu-Weber disease)
Rendu (1896) was the first to observe a patient with a combination of multiple telangiectasias and nosebleeds. Osier (1901), analyzing several cases, identified hereditary hemorrhagic telangiectasias as an independent syndrome.
Causes and pathogenesis. Hereditary familial hemorrhagic angiomatosis is an autosomal dominant disease. There are several reports in the literature that the disease has been detected in several generations. According to most scientists, the disease is based on a genetically determined congenital weakness of the mesenchyme. Studies have established a defect in the muscular and elastic layers of the vessels.
Symptoms of hereditary familial hemorrhagic angiomatosis. Hereditary familial hemorrhagic angiomatosis is rare; both men and women are affected. In many cases, the onset of the disease occurs in childhood or adolescence with nosebleeds. Telangiectasias, spider-like, vascular nevi and small angioma-like formations ranging in size from a pinhead to 1 cm in diameter appear on the skin of the face (cheekbones, nasolabial folds, forehead, chin), auricles and mucous membranes (mouth, nose, pharynx, gastrointestinal tract, brain, lungs, bladder, etc.). Elements on the mucous membrane of the stomach and intestines are prone to bleeding, anemia often develops, even to a fatal outcome.
Most patients develop splenomegaly, hepatomegaly, heart failure, encephalopathy, etc. Laboratory parameters (blood clotting, platelet count, bleeding time, blood clot retraction) often remain within normal values.
The prognosis is serious due to the risk of profuse bleeding, which progresses with age.
Histopathology: In the upper part of the dermis (mucous membrane) there are multiple saccular dilations of the capillary vessels, in which the elastic architecture is disrupted.
Differential diagnosis. Hereditary familial hemorrhagic angiomatosis should be distinguished from telangiectasia in hemophilia, Fabry disease, liver cirrhosis, thrombocytopenic purpura.
Treatment of hereditary familial hemorrhagic angiomatosis is symptomatic.
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