The Singapore Family Physician

Back to issue Vol 50 No. 1 - Genomic Medicine: Clinical Primer

Familial Hypercholesterolaemia: Saving Lives Through Early Detection and Intervention

Jeremy Hoe
Sharon Pek
Subramaniam Tavintharan
The Singapore Family Physician Vol 50 No 1 - Genomic Medicine: Clinical Primer
17 - 23
1 January 2024
0377-5305
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.