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 considered rare but has an incidence similar to that of Hodgkin's disease and chronic granulocytic leukemia. The diagnosis should be considered in any patient with unexplained nephrotic-range proteinuria, heart failure, peripheral neuropathy, or hepatomegaly. If a monoclonal protein is found in a patient with any of these clinical presentations, a biopsy should be performed and the specimen stained with Congo red. The simplest source of diagnostic material is subcutaneous fat tissue. Treatment usually consists of chemotherapy, which may be oral and low dose or high dose with stem cell rescue.
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PMID:Amyloidosis. 1062 46

Although involvement of the liver is common in systemic amyloidosis, clinical manifestations of hepatic dysfunction and liver biochemical abnormalities are often absent or only mild. Here we report on a patient with primary amyloidosis and rapid development of liver failure, who was successfully treated by liver transplantation. The patient is a 61-year-old Swedish man who was admitted to the local hospital for spontaneous rupture of the spleen. Before admission, he had suffered from diffuse upper abdominal discomfort, diminished appetite, and had lost 15 kg in 6 months. Shortly after splenectomy, he developed cholestatic liver failure with moderate hepatomegaly, jaundice, ascites and hyponatremia. Over a period of 3 weeks his liver failure progressed, renal function deteriorated rapidly, and he developed encephalopathy. Liver transplantation was performed on the 35th day after splenic rupture. Histological examination revealed extensive deposits of amyloid in the spleen and liver. N-terminal amino acid sequence analysis of the amyloid protein, purified from the patient's native liver, revealed an AL protein of kappa I-type origin. The postoperative course was uncomplicated, apart from one episode of sepsis and one course of treatment for acute rejection. He was discharged from hospital with normal liver function and good kidney function. One year after surgery, he was in good condition, with normal liver function. However, a liver biopsy taken at the same time showed de novo amyloid deposits in the grafted liver. We conclude that liver transplantation may be indicated as a life-saving procedure in rapidly progressing hepatic amyloidosis with cholestatic jaundice, although the underlying disease has not changed.
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PMID:Liver transplantation as rescue treatment in a patient with primary AL kappa amyloidosis. 1083 44

Primary (AL, amyloid light-chain) amyloidosis is a plasma cell disorder in which deposits of amyloid light-chain protein cause progressive organ failure. It is important to recognise that amyloidosis is a dynamic process and chemotherapy-induced reduction of the activity of the plasma cell clone reduces the supply of the amyloid precursor protein and can result in a major regression of the deposits. The most common target organ is the kidney and renal amyloidosis manifests as proteinuria or nephrotic syndrome. Proteinuria is seen in three quarters of patients. Amyloid related nephrotic syndrome and renal failure are potentially reversible. Fatigue, congestive heart failure, hepatomegaly, peripheral neuropathy, orthostatic hypotension, carpal tunnel syndrome and macroglossia are other common features. The median survival is one to two years. Conventional-dose melphalan as standard treatment can prolong the median duration of survival by about ten months, but the clinical response rates with improvement of impaired organ function are low. Up-front high-dose chemotherapy with autologous peripheral blood stem cell transplantation is much more effective and can result in a major improvement in the clinical condition of patients. However, the toxicity related to this treatment can be relevant due to impaired organ function. Conventional-dose chemotherapy consisting of vincristine, doxorubicin and dexamethasone or high-dose dexamethasone or interferon-alpha are other possible approaches to treatment. The improvement of patient condition with an effective conventional-dose chemotherapy may increase the tolerability of high-dose chemotherapy and reduce transplantation related problems.
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PMID:Novel approaches to the treatment of primary amyloidosis. 1106 Aug 11

Monoclonal immunoglobulin deposition diseases are due to pathological protein deposition in various tissues and organs. Protein deposits may be found in a single tissue or systemically and the organs most frequently involved are kidney, heart, peripheral nerves and the liver. Depending on the pattern of the deposits and the type of immunoglobulin, these diseases are distinguished as primary amyloidosis, light chain deposition disease. Differential diagnosis is made in tissue specimens: microscopically by the identification of positive Congo red staining of the deposits, by immunohistochemical demonstration of proteins reacting with light chain (lambda or kappa) antisera or by recognition of fibrillar structures on electron microscopy. We report an unusual case of light chain deposition disease associated with amyloidosis, where hepatomegaly was the presenting manifestation and liver failure the cause of death, without any kidney involvement.
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PMID:Hepatic amyloidosis with light chain deposition disease. A rare association. 1121 61

Primary systemic amyloidosis (AL) is an uncommon disease characterized by the extracellular deposition of a protein with a beta-fibrillar structure, consisting of monoclonal immunoglobulin light chains, lambda or kappa (ratio of lambda to kappa, 3:1). In systemic amyloidosis liver involvement is frequent but it rarely has clinical importance. The massive and localized liver deposition of amyloid, characterized by marked hepatomegaly and portal hypertension without hepato-cellular failure and by a severe prognosis, without systemic involvement, is less frequent. The authors describe an unusual case of primary hepatic amyloidosis with giant hepatomegaly, intrahepatic cholestasis, portal hypertension and splenomegaly, occurred in an elderly patient.
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PMID:Giant hepatomegaly and portal hypertension in an elderly patient with primary liver amyloidosis: an uncommon clinical occurrence. 1140 89

Spontaneous amyloidosis was diagnosed in 11 male and 1 female chimpanzees and confirmed histologically and immunohistochemically. The chimpanzees were > or = 15 years of age when first diagnosed and averaged 22.4 years of age. The average survival time after diagnosis of systemic amyloidosis was 1.86 years with a standard deviation of 4.06 years (n = 7). The chimpanzees with amyloidosis were asymptomatic except for hepatomegaly, which became more detectable with age. Significant increases in clinical chemistry values, as compared with referenced normals and established normals, of blood urea nitrogen (BUN), asparate aminotransferase (AST), gamma-glutamyltransferase (GGT), globulin, total protein, creatinine phosphokinase (CPK), sedimentation rate, and triglycerides were found in animals 7 years of age or older with amyloidosis. These serum chemistry values, while increased in chimpanzees with amyloidosis, were generally within normal limits. Immunohistochemistry for both amyloid A protein and amyloid P component-labeled extracellular amyloid in all chimpanzees with amyloidosis was determined. Amyloid was deposited primarily in the liver. Amyloidosis in the chimpanzee is a chronic, intractable, progressive, fatal disease, and appears to be similar to secondary amy loidosis in other species.
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PMID:Spontaneous amyloidosis in twelve chimpanzees, Pan troglodytes. 1199 Feb 41

Patients with unexplained heart failure, hepatomegaly, nephrotic syndrome, or peripheral neuropathy should be evaluated for primary systemic (amyloid light-chain, or AL) amyloidosis by first seeking evidence of a clonal plasma cell disorder with serum and urine immunofixation studies, as well as a bone marrow biopsy. Immunostaining of the marrow biopsy for lambda and kappa isotypes will usually demonstrate a dominant clonal population of plasma cells if immunofixation studies are negative (less than 10% of cases). Tissue diagnosis of amyloidosis should be sought by biopsy of the abdominal fat or an involved organ. In addition, patients with stable myeloma or monoclonal gammopathy of undetermined significance who develop such conditions or become progressively ill should be evaluated for amyloidosis. We recommend that newly diagnosed patients with AL amyloidosis, who meet criteria for autologous hematopoietic cell transplantation, be considered for high-dose melphalan with stem cell support. Criteria usually include adequate cardiac, pulmonary, and hepatic function. AL amyloidosis patients treated with autologous transplantation frequently achieve durable complete remissions of the plasma cell disease and marked improvement in amyloid-related organ dysfunction. AL amyloidosis patients with dominant cardiac amyloid, who are without symptomatic pleural effusions and have no history of cardiac syncope or symptomatic arrhythmias, may be considered for autologous transplantation but are at increased risk of peritransplant mortality. Autologous transplantation should not routinely be offered to patients with dominant cardiac amyloid with recurrent effusions or histories of syncope or arrhythmias or to patients older than 50 years of age with more than two major organ systems involved (eg, heart, kidneys, liver, and peripheral nerves). We recommend that AL patients with isolated advanced cardiac or hepatic amyloidosis be considered for solid organ replacement followed by autologous transplantation. Otherwise, AL patients who are elderly or ineligible for autologous transplantation may be treated with oral melphalan (Alkeran, GlaxoWellcome, Middlesex, UK) and prednisone; however, because the response rate is only about 25% and the prognosis poor, such patients might also be enrolled on clinical trials of emerging therapies.
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PMID:Primary systemic amyloidosis. 1205 64

Primary amyloidosis is a plasma cell dyscrasia in which insoluble immunoglobulin light chain fragments are produced and polymerize into fibrils that deposit extracellularly, causing visceral organ dysfunction and death. The disorder is rare. Its recognition requires understanding the association between nephrotic syndrome, cardiomyopathy, peripheral neuropathy, and hepatomegaly with amyloidosis. The most important screening test for amyloidosis is immunofixation of the serum and urine to detect a monoclonal immunoglobulin light chain. All patients need the diagnosis confirmed histologically. The least invasive source of tissue for amyloid detection is the subcutaneous fat. The most important prognostic factor is whether there is cardiac involvement, which is best assessed by echocardiography with Doppler studies. Therapies used include oral melphalan/prednisone and high-dose corticosteroids. High-dose chemotherapy followed by stem cell reconstitution seems to provide the highest reported response rates. Transplant is associated with unique morbidities not seen in the transplantation of patients with other hematologic malignancies.
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PMID:Primary systemic amyloidosis. 1205 72

Monoclonal light chains (LCs) are responsible for a wide spectrum of renal and hepatic diseases, that above all include amyloid light-chain (AL) amyloidosis and light chain deposition disease (LCDD). Amyloid deposits stain for Congo red on light microscopy and have fibrillar aspect on electron microscopy, whereas deposits in LCDD are positive using monotypic LCs on immunofluorescence and have a granular aspect on electron microscopy. Sometimes fibrillar and granular deposits are observed in the same organ or in different organs of the same patient. Kidney and liver involvement is a frequent finding, both in primary amyloidosis (AL amyloidosis) or in LCDD. Renal manifestations include proteinuria, nephrotic syndrome, and progressive renal failure. End-stage renal disease requiring dialysis is observed in about 20% of patients with AL amyloidosis and in 70% of patients with LCDD. The mean survival time is about 12 to 18 months in AL amyloidosis and 34 months in LCDD. The most important prognostic factor is severe cardiac involvement, which reduces the mean survival to only 6 months. Hepatic manifestations include hepatomegaly, portal hypertension, ascites, intrahepatic cholostatic jaundice, and hepatic insufficiency. The mean survival of patients with liver damage is 14 months, but it is reduced to 5 months in patients with cholostatic jaundice. Contemporary kidney and liver involvement is usually observed on histologic examination, less frequently as clinical manifestation. No specific treatment exists for AL amyloidosis and LCDD, and the prognosis remains severe. The aim of treatment is to suppress proliferation of the abnormal clone of plasma cells and remove tissue deposits. The regimens, including melphalan-prednisone (MP) or vincristine-doxorubicin-dexamethasone (VAD), are used both in AL amyloidosis or in LCDD with some effectiveness. New approaches, especially the use of 4'-iodo-4'deoxydoxorubicin, could achieve better results. Dialysis seems to not worsen the outcome in both diseases because survival of patients on dialysis is not different from that of patients not reaching uremia. Also, kidney and liver transplantation is effective, though amyloidosis or LCDD may occur in transplanted organs. The most interesting therapeutic approach is autologous-blood stem-cell transplantation, which may produce a complete remission of the plasma-cell dyscrasia and a substantial improvement of clinical manifestations related to LC deposits.
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PMID:Kidney and liver involvement in monoclonal light chain disorders. 1211 97

History and presenting signs and symptoms in 26 Hungarian Gaucher patients are described in order to promote recognition of non-diagnosed patients. Macrophages accumulating glucocerebrosidase due to deficient glucocerebrosidase activity may be present in many organs leading to a wide variety of clinical manifestations. The most common presenting signs and symptoms are splenomegaly, hepatomegaly, hypersplenism with anemia and thrombocytopenia, and bone deterioration. Rare manifestations of Gaucher disease including glomerulonephritis, pericarditis, pericardial calcification, haemorrhagic colitis and amyloidosis are also discussed.
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PMID:[Presenting signs and symptoms in Gaucher disease]. 1243 34


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