Hepatic lipase deficiency in a Middle-Eastern-Arabic male

Autor: Abdullah M Al-Ali, Robert A. Hegele, Kishor M. Wasan, Kristina Sachs-Barrable, Jiri Frohlich, Nafila B. Al Riyami, John Walter Hill, Ahmad Al-Sarraf
Rok vydání: 2012
Předmět:
Zdroj: BMJ case reports. 2010
ISSN: 1757-790X
Popis: 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.
Databáze: OpenAIRE