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 an uncommon plasma-cell dyscrasia with an incidence of eight patients per million per year. It is often difficult to recognize because of the myriad symptoms and vague nature of the clinical presentation. Symptoms include fatigue, dyspnea, edema, paresthesias, and weight loss. Clinical syndromes at presentation include nephrotic-range proteinuria with or without renal insufficiency, cardiomyopathy, hepatomegaly, symptomatic peripheral neuropathy, and autonomic failure. Recent advances have occurred in evaluation of patients by using the free light chain assay and new prognostic assessments with cardiac biomarkers. Newly developed therapeutic strategies, involving high-dose and intermediate-dose chemotherapy, have evolved in the last 3 years. This paper reviews a diagnostic pathway clinicians can use to diagnose the disorder, assess a patient's prognosis, and logically plan a therapeutic strategy.
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PMID:Amyloidosis. 1602 46

Amyloidosis is a rare plasma cell proliferative disorder. The annual incidence in Olmsted County, Minnesota, is 8 in 1,000,000 patients. This is a difficult disorder to diagnose, because the symptoms at presentation are vague and include dyspnea, paresthesias, edema, weight loss, and fatigue. The clinical syndromes at the time of presentation include nephrotic-range proteinuria with or without renal failure, cardiomyopathy, "atypical multiple myeloma," hepatomegaly, and autonomic or peripheral neuropathy. The serum immunoglobulin free light chain assay has been an important step forward in classifying systemic amyloidosis as an immunoglobulin light chain form and in monitoring therapy. Recently, the importance of serum cardiac biomarkers in assessing outcome has been recognized. New therapies developed over the past 5 years include high-dose chemotherapy with stem cell reconstitution, combinations of alkylating agents with dexamethasone, and, most recently, thalidomide.
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PMID:Amyloidosis: diagnosis and management. 1635 26

Secondary amyloidosis is a progressive systemic disease for which there is no reliable diagnostic assay, preventive measure, or treatment. In an attempt to elucidate an antemortem diagnosis, 30 female pig-tailed macaques (Macaca nemestrina) at the Washington National Primate Research Center were surveyed for amyloidosis. Amyloid was demonstrated histologically in 47% (14 of 30) of the animals. The distribution and severity of amyloid deposition was variable. Affected animals had a mean age (+/-1 standard deviation) of 13.2 +/- 4.9 y, which was significantly greater than the mean age of unaffected animals (9.3 +/- 4.1) y. Twelve tests were evaluated for detection of amyloidosis; the diagnostic value of each was determined through comparison of histologically positive and histologically negative animals. Diagnostic tests evaluated were endoscopic examination and biopsy of the stomach and colon, abdominal ultrasonography, hepatic radiology, serum amyloid A (SAA), endothelin 1, alpha-fetal protein, aspartate aminotransferase (AST), alanine aminotransferase, gamma-glutamyltransferase (GGT), alkaline phosphatase, cholesterol, blood urea nitrogen, total bilirubin, C-reactive proteins, and erythrocyte sedimentation rate. Amyloidotic animals demonstrated a distinctive serologic profile: elevated SAA, GGT, and AST in combination with decreased total protein and albumin. Radiology demonstrated hepatomegaly in animals with hepatic amyloid deposition. In the absence of known infection or trauma, an amyloidotic serologic profile and radiologic hepatomegaly are consistent with systemic amyloidosis in M. nemestrina.
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PMID:Detection of systemic amyloidosis in the pig-tailed macaque (Macaca nemestrina). 1663 79

Primary amyloidosis is a systemic disorder caused by the clonal production and tissue deposition of immunoglobulin light chain proteins. The disease symptoms are typical of multisystem failure. Common presenting features include nephrotic syndrome, hepatomegaly, sensomotor peripheral neuropathy and, in the case of cardiac involvement, congestive heart failure. This last sign appears very seldom as alone, without any others. Cardiac involvement generally denotes a poor prognosis, regardless of the method of treatment. The median survival rate from onset of congestive heart failure is 6 months. Only the patients with earliest diagnosis made and advanced treatment (chemotherapy, autologous stem-cell transplantation, heart transplantation) introduced have the chance of the lengthening of life. The authors present a case of 52-year-old man with a primary amyloidosis, who suffered from severe, not responding to treatment, congestive heart failure. Because of lack of the other organ involvement symptoms, the correct diagnosis was made very late. The authors place emphasis on a simple diagnostic tool such as the correlation between the low voltage in the limb ECG leads and the echocardiographic sings of left ventricular hypertrophy. The combination of specific ECG, echocardiographic findings and positive extracardiac tissue biopsy may be sufficient to reach correct diagnosis. These examinations are easy accessible in non-specialist hospitals.
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PMID:[Primary cardiac amyloidosis -- condition which can be diagnosed by a cardiologist]. 1675 38

Light chain deposition disease (LCDD) is a rare pathologic condition distinct from amyloidosis. Amyloidosis is most often characterized by overproduction of lambda light chains, while kappa chains are overproduced in LCDD. In contrast to amyloid deposits, those of LCDD do not stain with Congo red and have a granular ultrastructure. LCDD primarily affects the kidney; clinically significant liver dysfunction is less common and less severe than renal disease. We describe a case of kappa chain deposition disease in a patient with plasma cell dyscrasia and platelet pool storage defect, which produced massive hepatomegaly and rupture of the liver leading to orthotopic liver transplantation. The liver weighed 6800 g and showed severe atrophy due to massive deposition of light chains. In this case, the deposits were composed of unbranched fibrils, which measured 12 to 20 nm in width, did not possess a hollow core, and were arranged randomly rather than in structured arrays.
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PMID:Liver transplantation for liver rupture due to light chain deposition disease: a case report. 1685 Mar 79

Hepatic amyloidosis complicated with Castleman's disease is quite rare. A 48-year-old woman was referred to our hospital with general fatigue, low-grade fever, anemia, thrombocythemia, and liver dysfunction. Physical examination revealed anemia and hepatomegaly and abdominal computed tomography showed marked hepatomegaly and right upper abdominal masses. Technetium-99m pyrophosphate (99mTc-PYP) scintigraphy revealed the diffuse abnormal uptake of the enlarged liver, suggesting amyloid deposition. Liver biopsy showed destruction of the liver structure and the massive deposition of AA type amyloid protein. Surgical resection was performed on the abdominal masses. Histological examination of the masses showed Castleman's disease (plasma cell type). After resection, her fever resolved and the liver size gradually decreased to within the normal range. This case shows that surgical resection of the main lesion is effective for hepatomegaly due to AA type amyloidosis associated with Castleman's disease.
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PMID:Marked hepatomegaly due to AA type amyloidosis in a case with Castleman's disease. 1686 6

Primary systemic amyloidosis is a rare disease with protean manifestations. Presence of nephrotic syndrome in the absence of diabetes and hypertension, cardiomyopathy in the absence of ischemia, restrictive cardiac defect, demyelinating polyneuropathy, or unexplained hepatomegaly should alert the physician to the possibility of amyloidosis. Initial steps in the diagnostic evaluation of patients with suspected amyloidosis include serum and urine immunoelectrophoresis and immunofixation studies. Demonstration of amyloid material on tissue biopsy (e.g., subcutaneous fat) is required for diagnosis. Availability of effective treatments has improved the outlook of patients with primary systemic amyloidosis. Early diagnosis is critical to optimizing the chances of effective therapy.
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PMID:Primary systemic amyloidosis. Early diagnosis and therapy can improve survival rates and quality of life. 1691 52

Hepatic involvement in primary amyloidosis is not rare but is often clinically silent. A mild elevation of the serum alkaline phosphatase level and hepatomegaly are the most common findings. We report a case of primary amyloidosis in an adult male presenting with intrahepatic cholestasis where viral, drug, alcohol, and autoimmune etiologies were all excluded and the definite diagnosis was established by liver biopsy with Congo red staining. Subsequently the patient was found to have monoclonal light chain disorder.
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PMID:Primary amyloidosis presenting as intrahepatic cholestasis. 1718 53

Primary (AL) amyloidosis is the most common form of systemic amyloidosis seen in current clinical practice. The symptoms of the disease are usually vague, special features are seen in fewer than one fifth of patients, and the combination of organs and systems involved provides a clue for the diagnosis. We describe a patient in whom asymptomatic hepatomegaly, cardiomegaly, hyperlipidaemia and elevated serum alkaline phosphatase level were found during routine examination; the final diagnosis was primary systemic AL amyloidosis with severe cardiomyopathy, resulting in a fatal outcome within eight months from the diagnosis.
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PMID:Unusual initial presentation of primary systemic (AL) amyloidosis with severe cardiomyopathy and fatal outcome. 1724 12

A 51-year-old female previously diagnosed as primary amyloidosis suffered from recurrent abdominal pain. The result of thorough examination indicated that the main cause of the pain was severe hepatomegaly. Continuous venous administration of narcotics and other alternative therapies did not provide symptomatic relief, and thus the patient was treated with celiac plexus block, which resulted in effective pain control and improved ADL level. Though the procedure of celiac plexus block is simple and celiac plexus block is applicable without causing severe complication, it is not widely used. From this case, it is considered that celiac plexus block is one of the most effective means to relieve intractable pain associated with both benign malady and abdominal malignant tumor.
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PMID:[A case of intractable chronic abdominal pain caused by hepatomegaly associated with primary amyloidosis, successfully treated with celiac plexus block]. 1740 68


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