Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study

Abstract

Objectives: To describe the characteristics of lipoprotein lipase (LPL)-deficient patients seen in infancy and to evaluate the safety and efficacy of severe fat restriction.

Methods: Children <1 year old presenting with chylomicronemia between 1972 and 1995 were identified, and their clinical courses were reviewed retrospectively.

Results: LPL deficiency was demonstrated in 16 infants who presented with irritability (n = 7), lower intestinal bleeding (n = 2), pallor, anemia, or splenomegaly (n = 5), and a family history or fortuitous discovery (n = 2). All plasma samples were lactescent at presentation. Chylomicronemia responded rapidly to dietary fat restriction, and it was possible to maintain satisfactory metabolic control for a prolonged period of time. Only 1 adolescent girl had an episode of pancreatitis associated with the use of oral contraceptives. No persistent adverse effects on growth were seen. We obtained abnormal values for serum iron, alkaline phosphatase, and total calcium.

Conclusions: The presentation of LPL deficiency is heterogeneous during infancy. Close dietary monitoring is required to avoid nutritional deficiencies. Estrogen therapy should be avoided in LPL-deficient patients.