Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having multiple myeloma. Secondary (AA) amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon. Amyloid deposition in the gastrointestinal (GI) tract is greatest in the small intestine. The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents. Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level. Biopsies to diagnose amyloidosis can be taken from the fat, kidney, intestine, or bone marrow. The safety of liver biopsies is controversial. With Congo Red stain, amyloid appears red in normal light and apple-green in polarized light. Treatment for AL amyloidosis is chemotherapy and stem cell transplantation; treatment for AA amyloidosis is control of the underlying disease. Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.
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PMID:Gastrointestinal manifestations of amyloidosis. 1972 11

AL amyloidosis is a systemic disease characterized by extracellular amyloid deposition in tissues, causing progressive dysfunction of affected organs. The main clinical syndroms include nephrotic-range proteinuria with or without renal dysfunction, congestive heart failure, hepatomegaly and peripheral or autonomic neuropathy. The aim of therapy is the reduction of monoclonal light chains, by suppressing the underlying plasma cell dyscrasia. Recent therapeutic strategies involve intermediate-dose chemotherapy or high-dose melphalan supported by peripheral blood stem cell transplantation. Alternative therapeutic approaches include thalidomide, lenalidomide, iododoxorubicin, etanercept and rituximab. This paper reviews the pathogenesis, diagnosis and therapy of the AL amyloidosis, focusing on clinico-morphological symptoms of renal involvement, monitoring of treatment response and supportive therapy.
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PMID:[Advances in diagnosis and treatment of AL amyloidosis]. 1863 70