ABSTRACT
Some of the clinical characteristics of familial hyperchylomicronemia were recognized as early as 1932 in the report by Burger and Grutz [1] of an 11-year-old boy, the product of a first-cousin mating, in whom cutaneous xanthomas and hepatosplenomegaly were associated with creamy fasting plasma. Holt and colleagues [2] in 1939 reported two siblings with gross hyperlipemia. The proband had severe attacks of abdominal pain. The defect in lipoprotein lipase in postheparin plasma was defined by Havel and Gordon [3] in 1960 in a study of three siblings with fasting hyperchylomicronemia. The initial patient of Holt et al. [2] was followed by Knittle and Ahrens [4] and shown by Frederickson and colleagues [5] to have defective activity of postheparin lipoprotein lipase (EC 3.1.1.3) activity. The enzyme requires a cofactor, apolipoprotein CII, and catalyzes the hydrolysis of the triglycerides of chylomicrons. Deficiency of the apoenzyme or the cofactor can cause clinical lipoprotein lipase deficiency. The gene for lipoprotein in lipase has been mapped to chromosome 8p22 [6], and it contains 10 exons over 30 kb [7]. A number of mutations have been identified.
