Studies of lipoprotein metabolism in a patient with fish-eye disease

Abstract

In the rare familial disorder fish-eye disease, hypertriglyceridaemia is associated with elevated levels of very low density lipoprotein (VLDL) and enrichment of low density lipoprotein (LDL) with triglyceride. The kinetic basis of the dyslipoproteinemia was investigated by studying the metabolism of the apolipoprotein B moiety of VLDL, intermediate density lipoprotein (IDL) and LDL in a 68-yr-old woman with this condition. The major kinetic abnormality was a pronounced reduction in the rate of fractional conversion of VLDL B to IDL B and of IDL B to LDL B, suggesting that the dyslipoproteinemia represents accumulation in plasma of partly degraded products of VLDL metabolism. This kinetic disorder has features in common with type-III hyperlipoproteinemia. In studies in vitro no defect in the enzyme, activator or substrate components of the lipoprotein lipase or hepatic lipase systems was observed.