Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Background: Common variants of APOA5 gene affect plasma triglyceride (TG) in the population and a number of rare variants APOA5 have been reported in individuals with hypertriglyceridemia (HTG).

Methods: APOA5 was analysed in 98 HTG individuals (plasma TG >9 mmol/L) in whom no mutations in LPL and APOC2 had been found.

Results: Two patients were found to be heterozygous for two novel APOA5 variants.

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.

Cholesteryl Ester Storage Disease (CESD) is a rare recessive disorder due to mutations in LIPA gene encoding the lysosomal acidic lipase (LAL). CESD patients have liver disease associated with mixed hyperlipidemia and low plasma levels of high-density lipoproteins (HDL). The aim of this study was the molecular characterization of three patients with CESD.