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)

A patient with gamma heavy chain disease (Franklin's disease) was discovered during evaluation for pancytopenia and splenomegaly. Lymphadenopathy, palatal edema, and infiltration of the bone marrow palatal edema, and infiltration of the bone marrow with abnormal cells were all absent. Serum and urine protein electrophoresis demonstrated a monoclonal protein migrating in the beta region. Immunoelectrophoresis showed that it reacted with antibodies against the Fc fragment of IgG heavy chains (gamma chains) but not with antibodies against kappa and lambda but not with antibodies against kappa and lambda light chains of Fab fragments. In the first year after detection of the disease, the patient had acute cholecystitis and disseminated herpes zoster. Sixteen months after diagnosis he died of overwhelming pneumonia caused by Pseudomonas aeruginosa and lebsiella neumoniae. A striking feature of his illness was his asymptomatic presentation, with pancytophenia and splenomegaly the only indication of this disease.
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PMID:Gamma heavy chain disease--presenting as pancytopenia and splenomegaly. 40 13

This review underscores the diversity of the clinical manifestations and hematopathological features of gamma heavy chain disease based on the detailed report of 16 patients evaluated in our chemical department, the analysis of 12 cases diagnosed in our laboratory, and the study of 81 cases previously reported. This condition is defined by the presence in the serum of immunoglobulin molecules composed of deleted gamma heavy chains devoid of light chains. The production by the monoclonal B cells of these peculiar proteins appears to result from multiple defects (deletions, insertions, and mutations) in both heavy and light chain genes leading to abnormal mRNA splicing. Gamma heavy chain disease is currently underdiagnosed. The diagnosis established by immunoelectrophoresis using specific antisera combined, in some instances, with the immunoselection procedure, can easily be missed on serum electrophoretic patterns: a narrow abnormal band suggestive of a monoclonal component was found in only 10 of our 28 cases. The amount of heavy chain disease protein in urine ranges from trace to 20 g/day and is usually moderate. Gamma heavy chain disease most often presents as a lymphoproliferative disorder featured by lymphadenopathies, splenomegaly, and constitutional symptoms. Extra-hematopoietic tumor localizations, such as cutaneous or subcutaneous involvement or thyroid tumor, may occur. Autoimmune disorders, notably rheumatoid arthritis and autoimmune hemolytic anemia or thrombocytopenic purpura, are frequent (26% of cases). There is no specific histological pattern. The most frequent is a pleomorphic malignant lymphoplasmacytic proliferation mainly seen in bone marrow and lymph nodes. Some cases present with a predominantly plasmacytic proliferation or chronic lymphocytic leukemia. Other patients are affected with non-Hodgkin lymphoma of various morphologic types. Immunocytologic studies showed that a gamma heavy chain disease protein may occur in the context of a double monoclonal lymphoproliferative process or in various B or T cell malignancies that are not directly involved in the production of the abnormal immunoglobulin. In some patients, the histologic appearance of the enlarged lymphoid organs showed only a moderate lymphoplasmacytic infiltration of uncertain malignancy. More important, some patients showed no evidence of an underlying lymphoproliferative disorder after several years of follow-up. The clinical course of gamma heavy chain disease varies from an asymptomatic state to a rapidly progressive malignancy. The choice of therapy should entirely rely on the underlying clinicopathologic features, without taking into account the presence of the abnormal protein.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Gamma heavy chain "disease": heterogeneity of the clinicopathologic features. Report of 16 cases and review of the literature. 250 55