[Digestive manifestations of Rendu-Osler's disease (author's transl)]. 1978

P Laugier

Rendu-Osler disease, hereditary hemorrhagic telangiectasia is a genetic disorder, autosomal dominent. Telangiectasia of the skin, face, trunk, upper and lower extremities are associated with angiomas of the oral and nasopharyngal membranes, lips, tongue and internal organs (intestine tract, liver, spleen, blood, lung, brain). They are source of melena, hematemesis, hematuria, hemoptysis with severe anemia. RESULTS dilated blood vessels forming cavernous spaces, flattened endothelial cells, no perivascular infiltration, degeneration of the perivascular connective tissue, elastic and muscular fibers missing around the vessels. Therefore hemorrhages are not able to stop spontaneously. Ultrastructural changes : formation of gaps along the thinned-out endothelial lining of dilated vessels, gaps plugged with thrombi. Anormal perivascular collagenous tissue, perivascular smooth muscles elongated and irregular in shape, did not surround the vessels. Liver cirrhosis and blood loss (gastrointestinal hemorrhages sometimes massive) are the only digestive manifestation of the severity. Systematic replacement of iron and blood transfusions are the most helpful forms of treatment.

UI MeSH Term Description Entries
D008551 Melena The black, tarry, foul-smelling FECES that contain degraded blood. Melenas
D006396 Hematemesis Vomiting of blood that is either fresh bright red, or older "coffee-ground" in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT. Hematemeses
D006417 Hematuria Presence of blood in the urine. Hematurias
D006469 Hemoptysis Expectoration or spitting of blood originating from any part of the RESPIRATORY TRACT, usually from hemorrhage in the lung parenchyma (PULMONARY ALVEOLI) and the BRONCHIAL ARTERIES. Hemoptyses
D006471 Gastrointestinal Hemorrhage Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Hematochezia,Hemorrhage, Gastrointestinal,Gastrointestinal Hemorrhages,Hematochezias
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013683 Telangiectasia, Hereditary Hemorrhagic An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA. Osler-Rendu Disease,Rendu-Osler-Weber Disease,Weber-Osler Disease,Weber-Osler Syndrome,Hereditary Hemorrhagic Telangiectasia,Osler's Disease,Osler-Rendu-Weber Disease,Osler-Weber-Rendu Syndrome,Telangiectasia, Hereditary Hemorrhagic, Type 1,Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber,Hemorrhagic Telangiectasia, Hereditary,Osler Disease,Osler Rendu Disease,Osler Rendu Weber Disease,Osler Weber Rendu Syndrome,Rendu Osler Weber Disease,Weber Osler Disease,Weber Osler Syndrome

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