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

Research output: Contribution to journalArticle

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 - 2010

    Fingerprint

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Al Riyami, N., Al-Ali, A. M., Al-Sarraf, A. J., Hill, J., Sachs-Barrable, K., Hegele, R., ... Frohlich, J. (2010). Hepatic lipase deficiency in a Middle-Eastern-Arabic male. BMJ Case Reports, 2010.