An age-matched computed tomography angiographic study of coronary atherosclerotic plaques in patients with familial hypercholesterolaemia.

Familial hypercholesterolaemia (FH) is characterised by a high, but variable risk of premature coronary artery disease (CAD). Cardiac computed tomography angiography (CCTA) can be employed to assess subclinical coronary atherosclerosis. We investigated the features and distribution of coronary artery plaques in asymptomatic patients with and without genetically confirmed heterozygous FH. We undertook an aged-matched case-control study of asymptomatic phenotypic FH patients with (cases, M+) and without (controls, M–) an FH-causing mutation. Coronary atherosclerosis was assessed by CCTA and calcium scoring. Coronary segments were evaluated for global and vessel-level coronary plaques and degree of stenosis. We studied 104 cases and 104 controls (mean age 49.9 ± 10.4 years), who had a similar spectrum of non-cardiovascular risk factors. Pre-treatment plasma LDL-cholesterol was higher in the M+ than M– group (7.8 ± 2.1 vs 6.2 ± 1.2 mmol/L, p< 0.001). There was a greater proportion of patients with mixed and calcified plaque, as well as a higher coronary artery calcium score and segment stenosis score (all p< 0.05), in the M+ compared with the M– group. M+ patients also had a significantly higher frequency of coronary artery calcium in the left main and anterior descending and right coronary arteries (all p< 0.05), but not in the left circumflex. Among patients with phenotypic FH, those with a genetically confirmed diagnosis had a higher frequency and severity of coronary atherosclerotic plaques, and specifically more advanced calcified plaques. Image 1 • Familial hypercholesterolaemia (FH) is characterised by a high, but variable risk of premature coronary artery disease. • In an aged-matched case-control study, asymptomatic patients with a genetically confirmed FH diagnosis had a higher frequency and severity of coronary atherosclerotic plaques. • Compared with those without a genetically confirmed FH diagnosis, patients with genetically diagnosed FH also had a significantly higher frequency of coronary artery calcium in the left main and anterior descending and right coronary arteries, but not in the left circumflex. [ABSTRACT FROM AUTHOR]