Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

Abstract

The prevalence of genetically confirmed FH in patients with ACS age ≤65 years and with LDL-C levels ≥160 mg/dl is high (approximately 9%). FH clinical algorithms do not accurately classify patients with FH. Genetic testing should be advocated in young patients with ACS and high LDL-C levels to allow prompt identification of patients with FH and relatives at risk.

Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome

“…In a general population without coronary artery disease but with an elevated LDL (≥4.9 mmol L −1 ), FH mutation is found in 1.7% (24/1386) individuals . In comparison, both this study and two other studies show a prevalence, depending on selection criteria (age at ACS and level of lipid abnormality) and the number of genetic mutations tested, a prevalence between 1.3% and 8.7% . The lower percentage of 1.3% was estimated in a study which only found three genetically verified mutations despite including 231 young patients aged ≤50 years with a myocardial infarction .…”

“…Our estimate of FH prevalence of 6.7% (8/116) is more in line with Amor‐Salamanca et al . , which found a prevalence of 8.7% (9/103) which also used a different, more extensive genetic platform. This study also supports the notion that a smaller test panel of selected high prevalent mutations for a specific geographical region can be a useful screening method.…”

“…However, despite an estimated high prevalence of heterozygous FH in the general population of 1/250 , the detection rate of a genetically verified mutation in the general population among those with high cholesterol is very low (<2%) . A higher prevalence of FH would be suspected in patients with verified atherosclerotic disease and has been reported as high as 1.3–9% in selected cohorts with an acute coronary syndrome (ACS) . Still, there is no recommendation on which criteria to use and how to select patients with ACS for genetic testing for FH.…”

Prevalence and pharmacologic management of familial hypercholesterolemia in an unselected contemporary cohort of patients with stable coronary artery disease

“…Second, we used a phenotypic diagnosis of FH that may not accurately identify monogenic FH 27,28 . However, in a recent study 29…”

“…Second, we used a phenotypic diagnosis of FH that may not accurately identify monogenic FH . However, in a recent study that confirmed genetically the diagnosis of FH in patients with acute coronary syndromes, about 1/3 were classified as polygenic, thus suggesting that only a minority of CAD patients may show a nonmonogenic form of FH. Third, the data reported in the present analysis are limited to the time of the visit or hospitalization period and we do not have data on long‐term persistence to prescribed therapies, their changes and relative outcomes.…”