Hepatic lipase deficiency in a Middle-Eastern-Arabic male.

Nafila Al Riyami, Abdullah M. Al-Ali, Ahmad AlSarraf, John Hill, Kristina Sachs-Barrable, Robert Hegele, Kishor M. Wasan, Jiri Frohlich

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Hepatic lipase (HL) deficiency is a rare genetic disorder that has been associated with premature atherosclerosis despite high plasma high-density lipoprotein (HDL) cholesterol concentrations in the affected individuals. The authors describe the clinical and biochemical features of HL deficiency in a young male of Middle-Eastern-Arabic origin. This is the first report of cholesterol ester transfer protein (CETP) activity and mass in HL deficiency 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.

Original languageEnglish
JournalBMJ case reports
Volume2010
Publication statusPublished - 1 Jan 2010

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