Heavy chain disease

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In 1963 and 1964, Franklin1, 2 reported the first case of a rare disorder of immunoglobulin metabolism characterized clinically by a generalized lymphadenopathy, recurrent respiratory infections, hepatosplenomegaly, and intermittent proteinuria. The serum and urine had increased amounts of protein corresponding to the heavy chain fragment of IgG, and this disorder was named “heavy chain disease.” Since then 15 cases have been reported.3–5 We are reporting another case of IgG heavy chain disease which has certain unusual features.

Case Report

A 42-year-old Negro man was first seen at the Cleveland Clinic in July 1969. Five years before he had experienced shortness of breath and a “swelling” in the left side of the neck. A diagnosis of malignant lymphoma was made from a lymph node biopsy. He received several courses of cyclophosphamide and x-ray therapy during the next few years and was essentially asymptomatic when referred for further evaluation and treatment.

On physical examination the patient was an obese, well-developed man in no acute distress and with normal vital signs. The cervical, axillary, submandibular, and supraclavicular lymph nodes were greatly enlarged, varying from 2 to 8 cm in greatest dimension. They were nontender, slightly firm, and matted. The liver was slightly enlarged. The remainder of the physical examination was unremarkable.

Laboratory studies. Results of pertinent laboratory studies are listed in Table 1. Lymphocyte transformation to phytohemagglutinin (PHA) was 9% (normal 50-80%), indicating an impaired cellular immune system. A bone marrow smear contained 34% mature and 4% immature plasma cells, and 2%. . .



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