FAMILIAL LIPOPROTEIN-LIPASE DEFICIENCY IN INFANCY - CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDY

Objectives: To describe the characteristics of lipoprotein lipase (LPL )-deficient patients seen in infancy and to evaluate the safety and ef ficacy of severe fat restriction. Methods: Children <1 year old presen ting with chylomicronemia between 1972 and 1995 were identified, and t heir clinical courses were reviewed retrospectively. Results: LPL defi ciency was demonstrated in 16 infants who presented with irritability (n = 7), lower intestinal bleeding (n = 2), pallor, anemia, or splenom egaly (n = 5), and a family history or fortuitous discovery (n = 2). A ll plasma samples were lactescent at presentation. Chylomicronemia res ponded rapidly to dietary fat restriction, and it was possible to main tain satisfactory metabolic control for a prolonged period of time. On ly 1 adolescent girl had an episode of pancreatitis associated with th e use of oral contraceptives. No persistent adverse effects on growth were seen. We obtained abnormal values for serum iron, alkaline phosph atase, and total calcium. Conclusions: The presentation of LPL deficie ncy is heterogeneous during infancy. Close dietary monitoring is requi red to avoid nutritional deficiencies. Estrogen therapy should be avoi ded in LPL-deficient patients.