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)

A review was carried out of 187 previously untreated cases of chronic lymphocytic leukaemia diagnosed between 1969 and 1988. The median age of the patients was 65 years (range, 36-87). There were 118 males (M/F ratio, 1.7). In accordance with Rai's staging system the patients were distributed as follows: 0.29%; I, 20%; II, 25%; III, 13%; IV, 13%, and according to Binet's staging the distribution was: A, 55%; B, 21%; C, 24%. The most frequently found physical findings were lymph node enlargement (55%), splenomegaly (32%) and hepatomegaly (28%). Anaemia was present in 20% of the cases and thrombocytopenia in 13%. The mean lymphocyte count was 62 x 10(9)/L (range, 6-475 x 10(9)/L). Bone marrow infiltration of over 80% was seen in 46% of the patients. Bone marrow biopsy was performed on 97 patients, the diffuse pattern of involvement being most commonly found (44%). Increased BUN (55%), alkaline phosphatase (42%) and LDH (38%) were the most frequent biochemical alterations. Hypogammaglobulinaemia was present in 55% of the patients, IgM being the most commonly affected immunoglobulin (66%). Monoclonal gammopathy was seen in 4% of the cases. LDT, measured in 75 patients, was less than a year in 32%. No antileukaemic drugs were needed in 34% of the patients. When concluding this study, 100 patients had died. The median survival was 57 months and death was related to chronic lymphocytic leukaemia in 53% of such patients.
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PMID:[Chronic lymphatic leukemia. I. Clinico-biological features and survival analysis. Study of 187 patients]. 177 6

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

Immunoglobulin light-chain amyloidosis needs to be considered in any patient presenting with cardiomyopathy with preserved systolic function, heavy albuminuria, an unexplained sensorimotor peripheral neuropathy, hepatomegaly, or atypical MGUS (monoclonal gammopathy of undetermined significance) or myeloma.The prognosis of the disease is determined by the levels of cardiac biomarkers and the pretreatment levels of immunoglobulin free light chains. All patients with systemic light-chain amyloid require therapy. There is no presymptomatic phase that warrants observation. Stem-cell transplantation produces a high response rate but is a viable option in only 20% of patients. Corticosteroids, alkylating agents, immunomodulatory drugs, and proteasome inhibitors all have shown activity in this disorder, and combinations are currently being explored in clinical trials. Despite advances in the past decade, 30% of patients still die within a year of diagnosis, suggesting that failure to recognize this disorder prior to advanced organ dysfunction remains a major impediment to improving outcomes.
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PMID:Immunoglobulin light-chain amyloidosis: growing recognition, new approaches to therapy, active clinical trials. 2248 50

Immunoglobulin light chain amyloidosis (AL) should be considered in any patient that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly or diarrhea. More importantly, patients being monitored for smoldering multiple myeloma and a monoclonal gammopathy of undetermined significance (MGUS) are at risk for developing AL amyloidosis. MGUS and myeloma patients that have atypical features, including unexplained weight loss; lower extremity edema, early satiety, and dyspnea on exertion should be considered at risk for light chain amyloidosis. Overlooking the diagnosis of light chain amyloidosis leading to therapy delay is common, and it represents an error of diagnostic consideration. Algorithms will be provided on how to evaluate patients with suspected AL amyloid as well as how to manage patients referred from other medical specialties with biopsy-proven amyloid. An organized stepwise approach to the treatment of patients with light chain amyloidosis, including established and investigational therapies, will be reviewed.
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PMID:Immunoglobulin light chain amyloidosis diagnosis and treatment algorithm 2018. 2979 48

Amyloid light chain (AL) amyloidosis is a disease of misfolded, fibrous proteins, either kappa or lambda subtype, that can be deposited into one or more organs, caused by a proliferation of plasma cells. The liver is uncommonly the main organ system affected and rarely the only organ affected by amyloid deposition. With hepatic involvement, the most common presenting findings are hepatomegaly and elevation of serum alkaline phosphatase. We report a case of a 50-year-old male who presented to our gastroenterology clinic with marked hepatomegaly secondary to hepatic amyloidosis, in concert with bone marrow involvement and nephrotic syndrome. Biopsies in conjunction with Congo red staining demonstrated 95% replacement of hepatic structure and 80% replacement of bone marrow with amyloid deposition. Despite these findings, liver chemistries, renal function, and blood count were normal. Our case presents not only the rare finding of primary hepatic amyloidosis but also an atypical presentation of this disorder. Although rare, AL amyloidosis should be in a differential diagnosis of any patient who presents with unexplained hepatomegaly, nephrotic-range proteinuria, heart failure with preserved ejection fraction, fatigue, weight loss or a history of monoclonal gammopathy of undetermined significance.
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PMID:Massive Hepatomegaly Secondary to Amyloidosis with Normal Liver Chemistries. 3251 38