Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

When cholestatic liver disease is present, liver ultrasound should be performed to ascertain if cholestasis is extrahepatic or intrahepatic. If bile ducts appear dilated and the probability of interventional treatment is high, endoscopic retrograde cholagio-pancreatography (ERCP) or trans-hepatic cholangiography (THC) should be the next step. If the probability of interventional therapeutics is low, cholangio-MRI should be performed. Once bile duct dilation and space occupying lesions are excluded, a work up for intrahepatic cholestasis should be started. Some specific clinical situations may be helpful in the diagnostic strategy. If cholestasis occurs in the elderly, drug-induced cholestatic disease should be suspected, whereas if it occurs in young people with risk factors, cholestatic viral hepatitis is the most likely diagnosis. During the first trimester of pregnancy cholestasis may occur in hyperemesis gravidorum, and in the third trimester of gestation cholestasis of pregnancy should be suspected. A familial history of recurrent cholestasis points to benign recurrent intrahepatic cholestasis. The occurrence of intrahepatic cholestasis in a middle-aged woman is a frequent presentation of primary biliary cirrhosis, whereas primary sclerosing cholangitis should be suspected in young males with inflammatory bowel disease. The presence of vascular spider nevi, ascites, and a history of alcohol abuse should point to alcoholic hepatitis. Neonatal cholestasis syndromes include CMV, toxoplasma and rubinfections or metabolic defects such as cystic fibrosis, alpha1-antitrypsin deficiency, bile acid synthesis defects, or biliary atresia. The treatment of cholestasis should include a management of complications such as pruritus, osteopenia and correction of fat soluble vitamin deficiencies. When hepatocellular failure or portal hypertension-related complications occur, liver transplantation should be considered.
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PMID:Diagnostic and therapeutic approach to cholestatic liver disease. 1497 98

In the 26th year of life a young woman suffered a portal and mesenteric thrombosis followed by portal hypertension with splenomegaly, esophageal varices and pancytopenia. After splenorenal shunt surgery and splenectomy hematologic parameters resolved rapidly. Also, she was suffering of Proteus syndrome, which is an extremely rare and sporadic hamartomatous disorder characterized by a variety of cutaneous and subcutaneous tumors including vascular malformations, several types of nevi, partial gigantism of the hands and/or feet and cystic visceral affections. It has been demonstrated that concurrence of several prothrombotic risk factors occur relatively often in patients with portal vein thrombosis. An extensive investigation of thrombophilic factors revealed reproduced high anti-beta2-glycoprotein I antibody titers together with mildly increased homocysteine levels. Other coagulation parameters were normal or negative. The presence of myeloproliferative moglobinuria was ruled out. Together with the history of recurrent superficial thrombophlebitis and portal vein thrombosis in the absence of other underlying diseases allowed for diagnosis of primary antiphospholipid syndrome being aggravated by hyperhomocysteinemia and vascular malformations caused by Proteus syndrome. Because of combined risk factors for further thrombembolisms permanent oral anticoagulant therapy was initiated.
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PMID:[A young patient with portal and mesenteric vein thrombosis and Proteus syndrome]. 1675 42

Dieulafoy's lesion is a gastrointestinal submucosal artery that ruptures into the lumen causing massive hemorrhage. Until recently, failure to diagnose and treat patients endoscopically may have necessitated blind gastrectomy. Because arteriolar spider nevi abound in patients with liver disease and bleeding from such lesions has been described in the upper gastrointestinal tract, we reviewed our experience to determine whether a diagnosis of advanced liver disease could facilitate recognition and treatment of this type of arterial bleeding. Endoscopy records from 1991 to 1996 for all cases of upper gastrointestinal bleeding at our institution were reviewed. Dieulafoy's lesion-like bleeding was defined as arterial-type bleeding with no evidence of mucosal ulceration or erosions. Advanced liver disease was defined as signs of portal hypertension and/or cirrhosis or infiltrative liver disease. Dieulafoy's lesion-like bleeding was the cause in 6 of 4569 cases (0.13%). Five patients with Dieulafoy's lesion-like gastrointestinal hemorrhage had advanced liver disease compared with 954 of 4569 of all patients endoscoped for gastrointestinal hemorrhage for the period evaluated (OR = 19.04; 95% CI 2.1-900.8; p < 0.002 by Fisher's exact test). Dieulafoy's lesion-like bleeding was treated successfully with epinephrine injection and endoscopic cauterization in 5 of 6 patients with 1 patient requiring surgery. No other clinical associations were evident. Dieulafoy's lesion-like bleeding occurs more commonly in patients with advanced liver disease and should be included as a potential cause for bleeding in advanced liver disease and aggressively sought.
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PMID:Dieulafoy's lesion-like bleeding: an underrecognized cause of upper gastrointestinal hemorrhage in patients with advanced liver disease. 1723 96