Vol 50 No. 1
Full Text:
Author(s):

Jeremy Hoe, Sharon Pek, Subramaniam Tavintharan

Published in:

The Singapore Family Physician Vol 50 No 1 - Genomic Medicine: Clinical Primer

Publication date:

1 January 2024

ISSN:

0377-5305

Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder associated with premature cardiovascular disease caused by excessive accumulation of cholesterol since childhood and adolescence. While homozygous FH presents in childhood with physical signs of cholesterol deposition, heterozygous FH is often “silent”, un-diagnosed, and often diagnosed in adulthood when one-third would already have developed cardiovascular disease (CVD). Genetic testing and subsequent cascade screening of families of affected individuals is critical in detecting FH early, allowing for early initiation of effective lipid lowering treatment.