Abstract
Summary Hepatic lipase (HL) defi ciency is a rare genetic disorder that has been associated with premature atherosclerosis despite high plasma highdensity lipoprotein (HDL) cholesterol concentrations in the affected individuals. The authors describe the clinical and biochemical features of HL defi ciency in a young male of Middle-Eastern-Arabic origin. This is the fi rst report of cholesterol ester transfer protein (CETP) activity and mass in HL defi ciency in a patient from this ethnic group. While the CETP mass was high, its activity was low, a discrepancy likely due to the abnormal composition of patient’s HDL particles.
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