Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 52-year-old Japanese woman with the chief complaint of marked swelling of her upper eyelids and a mass over the bulbar conjunctiva is reported. She previously noticed frequent purpura after minimal trauma, which was resolved shortly after taking some ascorbic acid. Laboratory data showed Ig-G kappa type M-protein in the serum and kappa type Bence-Jones protein in the urine by immunoelectrophoresis. Systemic examination showed mild hepatosplenomegaly, 1st degree of AV block, and a mild increase in plasma cells in the bone marrow biopsy. Histologically, the whole dermis of the eyelid skin and conjunctiva was replaced by a large quantity of amorphous, eosinophilic substances, which were diffusely positive with Direct Fast Scarlet 4BS. Immunohistochemical staining was positive for anti-amyloid P component antibody. Typical amyloid fibrils were proved by electron microscopy. She was finally diagnosed as primary systemic amyloidosis with diffuse swollen eyelids and conjunctival mass, symptoms which in primary systemic amyloidosis are very rare.
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PMID:Primary systemic amyloidosis: a unique case complaining of diffuse eyelid swelling and conjunctival involvement. 137 22

A 60-year-old man was admitted with general fatigue and jaundice of one year's duration in February, 1981. The hemoglobin (Hb) was 11.4 g/dl and reticulocytes were 1.7%. A diagnosis of chronic cold agglutinin disease (CCAD) was made from the presence of cold agglutinin (CA) 1:2,048, increased serum IgM 267 mg/dl and indirect bilirubin 1.4 mg/dl. His Hb was approximately 11 g/dl in summer and 9 g/dl in winter for the subsequent ten years without therapy. In July, 1990, he was readmitted because of exacerbation of anemia and hepatosplenomegaly. The Hb was 4.6 g/dl, indirect bilirubin 3. 1 mg/dl, CA titer 1:232,144 and reticulocytes were 20%. Serum IgM was 1,065 mg/dl, and immunoelectrophoresis showed IgM-kappa M-protein. Peripheral blood lymphoid cells expressed surface membrane immunoglobulin (SmIg) M and kappa. The bone marrow showed an increased number of lymphoid cells which also expressed SmIg M and kappa. These findings were compatible with those of the features of primary macroglobulinemia (PMG). The M-2 protocol resulted in decrease in serum IgM and CA, but he died of heart failure in February, 1991. The relationship between CCAD and PMG in relation to the pathogenesis was discussed.
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PMID:[Chronic cold agglutinin disease terminating in primary macroglobulinemia after a 10 year history]. 146 90

A rare association of multisystemic manifestations with plasma cell dyscrasia has been termed POEMS syndrome, which includes polyneuropathy, organomegaly, endocrinopathy. M-protein, and skin changes. From literature reports, organomegaly consists of hepatosplenomegaly and/or lymphadenopathy. We here present a case of POEMS syndrome that had most of the typical features of POEMS, except that organomegaly only involved the heart. The patient's multiple clinical manifestations, including cardiomyopathy, improved with chemotherapy, which is characteristic of POEMS syndrome. However, cardiomegaly or cardiomyopathy have not previously been described with POEMS. The present case suggests that cardiomegaly and cardiomyopathy may be added to the organomegaly in POEMS.
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PMID:POEMS syndrome presenting with cardiomegaly and cardiomyopathy. 153 13

A 72-year-old male had complained of right back pain and bleeding from his tongue. He was admitted to our department on May 18, 1989. Physical examination revealed hepatosplenomegaly. Peripheral blood findings were as follows: RBC was 3.80 x 10(6)/microliters. Hb 12.2 g/dl, Ht 36.5%, platelet count 735 x 10(3)/microliters, WBC 22,100/microliters, leukoerythroblastosis present. Neutrophil alkaline phosphatase score was normal. Serum vitamin B12 and plasma platelet-derived growth factor level were elevated. Skeletal X-ray revealed multiple punched-out lesions at the 8th thoracic vertebra, and 6th and 8th ribs. Serum IgG level was 3,900 mg/dl. Serum immunoelectrophoresis revealed IgG lambda-type M-protein. Because he complained of severe cervical pain, and skeletal X-ray examination revealed the fracture of 6th cervical vertebra, the operation was performed to remove the lesion. Biopsy of cervical lesion revealed plasmacytoma. M-protein was decreased and the size of the tumor was reduced after treatment with VCAP (vincristine, cyclophosphamide, adriamycin, prednisolone) regimen and interferon-alpha for multiple myeloma.
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PMID:[IgG lambda-type multiple myeloma associated with myelofibrosis accompanied by thrombocytosis]. 194 35

A series of 21 patients with IgD myeloma was studied retrospectively, to assess which parameter present at the time of diagnosis was of prognostic importance for survival and whether the clinical staging system of Durie and Salmon had predictive value for the survival time of these patients. Survival time did not appear to be correlated with haemoglobin concentration, thrombocytopenia, initial level of M-protein, amount of Bence-Jones proteinuria, hypercalcaemia, serum creatinine level, presence of osteolytic lesions or hepatosplenomegaly. Neither did the staging system of Durie and Salmon predict the survival time. It is concluded that clinical staging is of limited value in the management and prediction of the survival time of IgD myeloma patients.
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PMID:Prognostic factors in IgD myeloma: a study of 21 cases. 651 30

Four middle-aged male Chinese with polyneuropathy, skin hyperpigmentation, oedema, hepatosplenomegaly, ascites, gynaecomastia and white nails are described. In Japan and United States this syndrome has been associated with plasma cell dyscrasia. However, neither M-protein nor skeletal lesions were demonstrated in these four patients.
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PMID:Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly. 666 9

Three patients with an unusual multisystemic syndrome characterized by polyneuropathy, organomegaly *especially hepatosplenomegaly), endocrine dysfunction, M-protein, and skin abnormalities (POEMS syndrome) are discussed. Characteristic radiographic features include single or multiple osteosclerotic lesions and peculiar variety of bony proliferation. The relationship of the disorder to multiple myeloma and plasmacytoma and the pathogenesis of the skeletal abnormalities remain obscure.
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PMID:Plasma-cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes: the POEMS syndrome. Distinctive radiographic abnormalities. 724 23

A patient with a three year history of POEMS syndrome-polyneuropathy, hepatosplenomegaly M-protein, skin changes, optic disc edema, peripheral oedema, pleuritis, lymphadenopathy, and osteosclerotic myeloma is described. The patient had a twenty year history of psoriasis and impotence was the first sign of the disease. The pathophysiology of this multisystem disorder is unknown, although the M-protein is essential. No improvement was found after radiation, chemotherapy and steroid treatment.
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PMID:Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome. 818 Sep 8

A 79-year-old man with marked hepatosplenomegaly and lymphadenopathy was admitted to the hospital. Analysis of serum protein resulted in the diagnosis of gamma-chain disease (total protein 6.2 g/dl, M-protein positive, IgG 4150 mg/dl, IgG-Fc fragment positive). Specimens obtained by lymph node biopsies showed infiltration of plasmacytoid cells, which were stained with anti-IgG but not with anti-kappa or anti-lambda antibodies. The patient was given combination chemotherapy, but without effect. Then a regimen of long-term administration of low-dose etoposide was begun, and resulted in remission of the lymphadenopathy, hepatosplenomegaly, and abnormal IgG.
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PMID:[Successful treatment of heavy-chain disease with etoposide]. 915 98

POEMS syndrome (polyneuropathy, organomegaly, M-protein, and skin changes) is a rare plasma cell disease with small tumour mass and multisystem involvement. Since 2003 POEMS syndrome has been a nosological entity with approved diagnostic criteria, though its etiology and pathogenesis are still not clear. Males are more often affected, with peak incidence in the 5th and 6th decades. The major diagnostic problems are difficult detection of plasma cell infiltration in the osteosclerotic lesions and M-gradient most often low concentration IgA (lamda). We present a case of POEMS syndrome in a 47-year-old male patient who initially presented with edema of the lower limbs, moderate lymphadenopathy, hepatosplenomegaly, histological findings of Castleman disease with marked sinusoidal angioproliferation in the lymph nodes and multiple osteosclerotic lesions. Pleural effusion, ascitis, renal failure, progressive lower limbs polyneuropathy with invalidisation of the patient developed later. The attempts to detect lymphoproliferative process by myelogram, trephine biopsy, histological examination of lymph node and the spleen were ineffective and deceptively non-informative, neither did immunoelectrophoresis reveal M-grade. Diagnosis was made after bone biopsy of the largest osteosclerotic lesion and immunofixation (monoclonal IgA, lamda in the serum). The patient underwent treatment with alkylating agents and corticosteroids, radiation of the predominant osteosclerotic lesions and therapy with radioactive strontium. The general condition improved, lymphadenomegaly, skin lesions, pleural effusion and ascitis regressed and renal function was restored. There was a minor improvement of the neurological symptoms. Autollogous stem-cell transplantation is also recommended in literature for patients with generalized bone lesions or progressive and disease-resistant therapy.
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PMID:Poems syndrome--a rare variant of plasma cell dyscrasia. Case report and review of literature. 1967 May 34


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