FAMILIAL ERYTHROLEUKEMIA - 4 CASES OF THE DIGUGLIELMO SYNDROME IN CLOSE RELATIVES

  • 1 January 1982
    • journal article
    • research article
    • Vol. 150  (1) , 1-9
Abstract
Erythroleukemia was diagnosed in 3 brothers during a 6-mo. period in 1976. A son of 1 leukemic had died 5 yr ealier with erythroleukemia. First-degree relatives of these men were evaluated in an attempt to identify contributing factors. Relatives (24) have been studied. IgM was elevated in 14 of 16 persons (mean, 352.8 mg/dl; normal, < 145 mg/dl; P < 0.001). This was neither a monoclonal protein nor rheumatoid factor. Age-dependent red cell enzymes were increased. Erythrocyte hexokinase was markedly increased in 23 of 24 persons (mean, 35.05 units/100 ml RBC (red blood cells); normal, < 18 units; P < 0.001). Evidence for a hemolytic state was absent. Bone marrow samples in 8 first-degree relatives were normal. Cytogenetics were normal in 18 relatives. One leukemic exhibited hypoploidy and a marker chromosome. The association of an immunoglobulin abnormality and enzymopathy in the leukemics and relatives alike suggests a hereditary susceptibility to the development of erythroleukemia. The exact link is not identified.