Format

Send to

Choose Destination
J Clin Lipidol. 2016 Sep-Oct;10(5):1272-7. doi: 10.1016/j.jacl.2016.07.009. Epub 2016 Aug 9.

Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.

Author information

1
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
2
Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
3
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada. Electronic address: pareg@mcmaster.ca.

Abstract

We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. The patient did not respond to fibrate therapy, but his condition improved under a very low fat diet, although compliance was suboptimal. Heterozygous status was detected in both parents (consanguineous union) and one sibling, all showing moderate hypertriglyceridemia (between 5 and 10 mmol/L). There was a significant family history of premature cardiovascular disease. The index case was also diagnosed with a coronary artery anomaly. Considering the recently reported association of rare mutations in APOA5 with the risk of early myocardial infarction, we discuss the implications of these findings for the young man and his family.

KEYWORDS:

APOA5; Cardiovascular risk; Genetics; Hypertriglyceridemia; Management

PMID:
27678447
DOI:
10.1016/j.jacl.2016.07.009
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center