Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

POEMS syndrome is a multisystem disorder associated with polyneuropathy, organomegaly, endocrinopathy, a monoclonal protein (M-protein), and skin changes. The authors describe a patient with POEMS syndrome who has polyneuropathy of the upper and lower extremities, splenomegaly, impotence, IgA-lambda monoclonal protein (M-protein), and marked thickening of his skin. In addition, he has polycythemia vera. Although myeloproliferative disorders have been reported to occur in association with multiple myeloma, they have not been described with POEMS syndrome. The possible etiology of this association is discussed. This patient was successfully treated with melphalan and prednisone at the time of his initial diagnosis, but relapsed 10 years later. The relapse was treated with pulse doses of prednisone alone with complete resolution of his polyneuropathy and skin changes. This was accompanied by a fall in his IgA levels and improvement of his polycythemia.
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PMID:POEMS syndrome associated with polycythemia vera. 253 36

We reviewed a series of 109 reported Japanese cases of "plasma cell dyscrasia with polyneuropathy and endocrine disorder." This syndrome shows 1) polyneuropathy with increased protein level in the cerebrospinal fluid and sometimes papilledema, 2) endocrinological symptoms, including skin pigmentation, sclerosis, hypertrichosis, gynecomastia, impotence, amenorrhea, decreased glucose tolerance, edema, pleural effusion and ascites, 3) hepatomegaly, splenomegaly and lymphadenopathy, 4) polycythemia, leukocytosis and thrombocytosis, 5) osteosclerotic changes and 6) plasma cell dyscrasia. Plasma cell dyscrasia is considered to be the cardinal change in this syndrome. Most of the patients have low levels of IgG lambda or IgA lambda M-protein in the serum and a slightly increased number of plasma cells in the bone marrow. The clinical course is usually chronic. Surgical excision or irradiation of the local lesion and administration of corticosteroids and/or anti-cancer drugs are effective in improving polyneuropathy and other systemic symptoms. This syndrome is apparently more common in Japan than in the United States and European countries. The pathogenesis of the association of a variety of symptoms in this syndrome is still unclear.
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PMID:Plasma cell dyscrasia with polyneuropathy and endocrine disorder: clinical and laboratory features of 109 reported cases. 631 93

Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
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PMID:[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)]. 898 78

A 40-year-old Chinese man presented with sensorimotor polyneuropathy, IgAlambda paraprotein, osteosclerotic bone lesions, hypertrichosis, and impotence with decreased testosterone and raised prolactin level. POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome was diagnosed and he was treated with melphalan and prednisolone. After chemotherapy, other manifestations of POEMS syndrome developed, such as multiple haemangiomas over the chest and neck region, splenomegaly and generalized oedema. One haemangioma had a peculiar clinical morphology, similar to the appearance of cerebral gyri. Skin biopsy confirmed the diagnosis of glomeruloid haemangioma. Chemotherapy was then switched to cyclophosphamide and prednisolone, resulting in further improvement in muscle power and hypertrichosis. To our knowledge, this is the first report on a clinically distinctive morphology of glomeruloid haemangioma, and its recognition may increase the index of suspicion for early skin biopsy.
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PMID:Glomeruloid haemangioma with cerebriform morphology in a patient with POEMS syndrome. 1704 Feb 61

According publications' data, hairy cell leukosis encounters in humans aged from 26 to 70 years and in males four times more often than in females. The disease is manifested by impotence, splenomegaly, and presence in blood and bone marrow clone of lymphoid cells with particular morphology, cytochemic markers and immune phenotype (sIg+, CD19+, CD20+, CD5-, CD10-, with marked expression of CD25+, CD103+). The presented clinical case of illness with hairy cell leucosis is the first one detected in pediatric practice in adolescent of 16 years old.
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PMID:[The case of hairy cell leukosis in pediatrics]. 3058 41