Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Essential mixed cryoglobulinemia (EMC) is a syndrome characterized by cryoglobulinemia and clinical features including purpura, arthralgia, asthenia (Meltzer-Franklin syndrome) without evidence of any systemic disease Liver involvement in the course of EMC is described in 50-84% of patients. It consists of mild silent hepatosplenomegaly and slightly rise of serum amino transferase. Eleven patients with clinical and laboratory findings suggestive for EMC (five type II and six type III) underwent percutaneous liver biopsy to evaluate the degree of liver involvement. Two liver cirrhosis, two chronic active hepatitis, one chronic persistent hepatitis and a case of hepatic steatosis were found. A type III cryoglobulinemia was present in four of the six patients with liver involvement. All the patients were Hbs Ag negative but three of them were Hbs Ab positive. The pathogenesis of liver involvement in the course of EMC is still now uncertain. The authors believe that a previous HBV infection plays no role in the pathogenesis of EMC syndrome. This syndrome must be considered different from mixed cryoglobulinemia secondary to chronic liver disease. They suggest that liver biopsy is mandatory during the course of EMC even when clinical and laboratory data are silent.
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PMID:[Essential mixed cryoglobulinemia with liver involvement: a still open problem]. 238 52

The exact differential diagnosis of iron overload syndromes is mandatory as important therapeutic consequences may derive from a correct diagnosis, especially when hemochromatosis is present. To facilitate diagnostic and therapeutic decisions algorithms and probabilistic calculations based on different frequencies of clinical symptoms and typical laboratory findings of the diseases in question have been proposed. Overestimation and/or underestimation of clinical symptoms and/or laboratory findings in using such calculations, however, may lead to incorrect diagnosis and therapy as demonstrated in this case. We report on a 62-year-old patient with arthralgia, pathologic glucose metabolism, brown skin pigmentation and excessively elevated ferritin and transferrin saturation levels, which initially were interpreted as signs of the assumed underlying disease (hemo-chromatosis) based on a high initial suspicion level and further corroborated by Bayesian probability analysis yielding a probability 99.0 % for the presence of hemochromatosis. Because of this high probability and the patient's wish for treatment phlebotomy was started, but stopped after having obtained negative results of genetic testing and normal quantitative liver iron values. The diagnosis of hemochromatosis had to be revised and symptoms and laboratory findings of this patient were found to be compatible with chronic fatty liver and pathologically altered iron metabolism due to chronic alcohol intake which the patient has initially concealed. The joint pain was explained in terms of chronic degenerative bone destruction, the impaired glucose tolerance seen as the consequence of obesity and the skin pigmentation was ascribed to sun exposure due to the patient's outdoor activities as a hobby farmer not evaluated during initial presentation. The implications and importance of unbiased history taking, critical interpretation of clinical symptoms and laboratory findings in using probabilistic calculations and diagnostic decision analysis are emphasized and the different mechanisms of iron metabolism in hemochromatosis and hemosiderosis are discussed.
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PMID:[Hemochromatosis or hemosiderosis? Initial misinterpretation of clinical symptoms and laboratory findings in a 62-year-old patient]. 1196 34

Avascular necrosis of bone (osteonecrosis) that is atraumatic is most frequently associated with corticosteroid excess or alcoholism and usually involves the femoral head. We report a case of multifocal avascular necrosis in a 38-year-old woman with autoimmune Addison's disease taking corticosteroid replacement therapy. The onset of joint symptoms occurred 6 months after a pregnancy complicated by acute fatty liver and disseminated intravascular coagulation. Although both knees and ankles were involved, an unusual feature is that the hips were spared. As illustrated in this patient, avascular necrosis is frequently misdiagnosed in cases of joint pain of acute onset and may occur in the context of physiologic replacement doses of corticosteroids. Etiologic factors can precede the onset of symptoms and the diagnosis by several months.
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PMID:Postpartum multifocal avascular necrosis: what are the possible etiologies? 1703 87

We sought to compare the musculoskeletal symptoms and immune markers found in chronic hepatitis C (HCV) and nonalcoholic fatty liver disease (NAFLD). Patients with HCV or NAFLD answered a questionnaire and donated serum for autoantibody testing. Univariate analysis between the HCV and NAFLD groups revealed joint pain in 67% of the HCV group and 65% of the NAFLD group. Those with joint pain reported inflammatory characteristics that were similar between the groups. The presence of a positive rheumatoid factor and cryoglobulins was higher in the HCV group, however both groups had a similar prevalence of a low positive antinuclear antibody (ANA). We conclude that the NAFLD group reported a higher amount of joint pain and inflammatory joint symptoms than anticipated. We were unable to determine a variable that predicted the presence of joint pain. Therefore, more investigation is needed to determine whether these findings are due to liver disease alone.
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PMID:Musculoskeletal complaints and serum autoantibodies associated with chronic hepatitis C and nonalcoholic fatty liver disease. 1738 12