heavy chain disease
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heavy chain disease
a rare monoclonal gammopathy characterized by neoplastic proliferation of plasma cells and precursors that secrete immunoglobulin heavy chains. It is often accompanied by hepatosplenomegaly, lymphadenopathy, and soft tissue tumors. There are three varieties, each characterized by a specific heavy chain: alpha chain disease, gamma chain disease, and mu chain disease.
heav·y chain dis·ease
a term used for a group of diseases, the paraproteinemias, characterized by production of homogeneous immunoglobulins or fragments, and associated with malignant disorders of the plasmacytic and lymphoid cell series. Three types have been recognized: γ-heavy-chain disease, α-heavy-chain disease, and μ-heavy-chain disease; each is diagnosed by the finding of the appropriate heavy-chain fragment in the serum, urine, or both.
heavy chain diseaseAny of a family of monoclonal gammopathies or paraproteinemias characterized by excess production of an immunoglobulin Fc fragment, detectable in the serum and/or urine and accompanied by lymphoproliferative disease. See Hyperimmunoglobulin D. E, M syndromes.
Heavy chain disease
alpha heavy chain disease Seligmann's disease The most common heavy chain disease or paraproteinemia, in which there is an excess production of an incomplete IgA1 molecule–partial heavy chain and no light chain, which affects Sephardic Jews, Arabs and Mediterranean rim inhabitants Clinical Onset in childhood or adolescence as either a lymphoproliferative disorder confined to the respiratory tract or an enteric form–see IPSID with severe diarrhea, malabsorption, steatorrhea, weight loss, hepatic dysfunction, hypocalcemia, lymphadenopathy, marked mononuclear infiltration which may eventuate into lymphoma–see Mediterranean lymphoma; AHCD may remit spontaneously, respond to antibiotic therapy, or if clearly monoclonal, may require combination chemotherapy, potentially causing death by ages 20-30 Laboratory ↑ Alkaline phosphatase, ↓ Ca2+ Treatment Antibiotics, or if monoclonal, chemotherapy.
gamma heavy chain disease A disorder of older ♂, ranging from fulminant, ie death in weeks to prolonged, lasting 20 years, most die in the first year, often due to infection Clinical GHCD presents as a lymphoproliferation with fever, fatigue, anemia, angioimmunoblastic lymphadenopathy, hepatosplenomegaly, uvular and palatal edema, eosinophilic infiltrates, leukopenia, associated with autoimmune disease, tuberculosis and lymphoma Laboratory ↑ IgG1; most cases excrete less than 1 g/day of paraprotein, rarely up to 20 g/day Treatment Cyclophosphamide, vincristine, prednisone
mu chain disease A rare paraproteinemia that affects the middle-aged to elderly, most of whom have or slowly progress to CLL Clinical Lymphadenopathy, hepatosplenomegaly and BM infiltration by vacuolated plasma cells, often accompanied by ↑ kappa chain production Treatment As with CLL
heav·y chain dis·ease(hev'ē chān di-zēz')
A term used for a group of diseases, the paraproteinemias, characterized by production of homogeneous immunoglobulins or fragments, and associated with malignant disorders of the plasmacytic and lymphoid cell series.