Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency

Clinical and biochemical characteristics of a female patient with familial lipoprotein lipase deficiency have been followed in short intervals before and during puberty. The proband is compound heterozygote for two missense mutations in the lipoprotein lipase gene. One mutation occurs in codon 250 (Asp(250)-->Asn), the other is in codon 410 (Glu(410)-->Lys). The residual lipoprotein lipase activity in the proband is less than 10% of controls. Before puberty the proband usually presented with moderate isolated hypertriglyceridaemia. During the initial phase of puberty a dramatic increase in the plasma concentration of both cholesterol and triglycerides was observed. During the second half of puberty a reduction of cholesterol but not of triglycerides was noticed. Conclusion These findings show that the phenotypic expression of familial chylomicronaemia can be modified to a large extent by hormones. Furthermore they demonstrate the need for a closer clinical observation of type I patients during puberty.