von Willebrand's disease with gastrointestinal telangiectasia. 1993

V R Dharnidharka, and S K Bichile, and S S Vaidya
Department of Hematology, TN Medical College, Bombay.

A 30-year old woman presented with recurrent and massive bleeding from gastrointestinal tract. Her coagulation profile revealed von Willebrand's disease and her endoscopic examination showed extensive telangiectasia localized to the gastrointestinal tract. The association of Von Willebrand's Disease and telangiectasia is extremely rare and hence the report.

UI MeSH Term Description Entries
D004064 Digestive System A group of organs stretching from the MOUTH to the ANUS, serving to breakdown foods, assimilate nutrients, and eliminate waste. In humans, the digestive system includes the GASTROINTESTINAL TRACT and the accessory glands (LIVER; BILIARY TRACT; PANCREAS). Ailmentary System,Alimentary System
D005260 Female Females
D005500 Follow-Up Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
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
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
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
D014842 von Willebrand Diseases Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion. Angiohemophilia,Hemophilia, Vascular,von Willebrand Disease,Vascular Pseudohemophilia,Von Willebrand Disorder,Von Willebrand's Factor Deficiency,von Willebrand Disease, Recessive Form,von Willebrand's Disease,von Willebrand's Diseases,Angiohemophilias,Disorder, Von Willebrand,Pseudohemophilia, Vascular,Pseudohemophilias, Vascular,Vascular Hemophilia,Vascular Hemophilias,Vascular Pseudohemophilias
D016099 Endoscopy, Gastrointestinal Endoscopic examination, therapy or surgery of the gastrointestinal tract. Endoscopic Gastrointestinal Surgical Procedures,Surgical Procedures, Endoscopic Gastrointestinal,Endoscopic Gastrointestinal Surgery,Gastrointestinal Endoscopic Surgical Procedures,Procedure, Endoscopic Gastrointestinal, Surgical,Procedure, Gastrointestinal Endoscopic Surgical,Procedures, Endoscopic Gastrointestinal, Surgical,Procedures, Gastrointestinal Endoscopic Surgical,Surgical Procedure, Endoscopic Gastrointestinal,Endoscopic Gastrointestinal Surgeries,Endoscopies, Gastrointestinal,Gastrointestinal Endoscopies,Gastrointestinal Endoscopy,Gastrointestinal Surgeries, Endoscopic,Gastrointestinal Surgery, Endoscopic,Surgeries, Endoscopic Gastrointestinal,Surgery, Endoscopic Gastrointestinal
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal

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