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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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
Publication statusPublished - 2010

ASJC Scopus subject areas

  • General Medicine


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