Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235886 (leg edema)
 674 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary hemorrhagic telangiectasia, commonly known as Osler-Weber-Rendu disease, is a systemic autosomal dominant inherited disorder, that occurs in Caucasian populations. We report the case of a 56-year-old housewife who was admitted to the gastrointestinal and cardiovascular ward because she had suffered from recurrent gastrointestinal bleeding and heart failure from 1994 to 1997. Panendoscopy showed vascular ectasia scattered over the tongue, larynx, esophagus, and posterior wall of the gastric body. Colonoscopy showed clusters of telangiectasia over the cecum and ascending colon. Arteriovenous malformations (AVMs) were found in the liver and lungs on computerized tomography. Recurrent gastrointestinal bleeding was controlled by estrogen treatment during the follow-up period. In July 1997, the patient was readmitted to our cardiovascular section due to aggravated dyspnea, orthopnea and bilateral lower leg edema. Cardiac catheterization showed a large fistula from the left pulmonary artery to the left atrium and left ventricle, pulmonary arterial pressure of 37/13 mmHg and cardiac output of 9.61/minute. Other studies excluded the possibility of sepsis, and high-output cardiac failure was suspected. The patient was discharged in a stable condition and scheduled for AVM embolization management. Unfortunately, she died of a suspected heart attack at home two weeks following discharge.
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PMID:Recurrent gastrointestinal bleeding and high output cardiac failure caused by hereditary hemorrhagic telangiectasia. 1082 Sep 15