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Angiomatosis hereditary familial hemorrhagic: causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Angiomatosis, hereditary family hemorrhagic
Synonyms: hereditary hemorrhagic telangiectasia, Osler-Rendu-Weber disease)
For the first time Rendu (1896) observed the patient with a combination of multiple telangiectasias with nasal bleeding. Osier (1901), analyzing several cases, identified hereditary hemorrhagic telangiectasias in an independent syndrome.
Causes and pathogenesis. Angiomatosis is a hereditary family hemorrhagic - 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 the genetically determined innate weakness of the mesenchyme. Studies have established a defect in the muscular and elastic layers of the vessels.
Symptoms of angiomatosis of hereditary family hemorrhagic. Angiomatosis, hereditary family hemorrhagic is rare; sick both men and women. In many cases, the onset of the disease manifests itself in childhood or adolescence with nasal bleeding. Telangiectasias, arachnids, vascular nevi, and others appear on the skin of the face (the area of the cheekbones, nasolabial folds, forehead, chin), the auricles and mucous membranes (mouth, nose, pharynx, gastrointestinal tract, brain, lungs, bladder, etc.) small angio-like formations as large as a pinhead and 1 cm in diameter. Elements on the mucosa of the stomach and intestines are prone to bleeding, anemia often develops until the fatal outcome.
Most patients develop splenomegaly, hepatomegaly, heart failure, encephalopathy, etc. Laboratory indicators (blood clotting, platelet count, bleeding time, blood clot retraction) often remain within normal limits.
The prognosis is serious because of the danger of heavy bleeding, which progress with age.
Histopathology. In the upper part of the dermis (mucous membrane) - multiple saccular extensions of capillary vessels, in which the elastic architectonics is broken.
Differential diagnosis. Angiomatosis, hereditary family hemorrhagic should be distinguished from telangiectasia in hemophilia, Fabry disease, cirrhosis, thrombocytopenic purpura.
Treatment of angiomatosis of hereditary family hemorrhagic is symptomatic.
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