Atherosclerosis progression in patients with autosomal dominant hypercholesterolemia in clinical practice

Autosomal dominant hypercholesterolemias (ADH) are associated with high risk of premature cardiovascular disease (CVD). No data on progression of atherosclerosis in ADH population in clinical practice are available.

To investigate atherosclerosis progression in ADH patients and its relationship with CVD risk factors.

A total of 463 patients, 279 with familial hypercholesterolemia and 184 with familial combined hyperlipidemia, were prospectively followed during a median of 36.5 months. Carotid intima-media thickness (cIMT) was assessed at baseline and at the end of the follow-up by ultrasonography.

A total of 259 patients (55.9%) showed cIMT progression and 149 (32.2%) remained within normal age-adjusted cIMT. Baseline cIMT was the variable most inversely associated with cIMT progression (B = -0.313; P < .001). Hypertension, diabetes, and smoking during follow-up were variables positively associated with progression. Patients who began statin treatment during the study period had less progression than former statin users. The 83.7% of ADH with normal baseline cIMT, absence of major CVD risk factors and non-high-density lipoprotein (HDL) cholesterol <190 mg/dL at follow-up remained with normal cIMT at the end of the study. Non-HDL cholesterol concentration reached during the follow-up was associated with cIMT only in subjects with abnormal cIMT at baseline. In this subgroup, cIMT tended to avoid progression with non-HDL cholesterol <130 mg/dL.

Atherosclerosis progression varies greatly among ADH patients. cIMT progression was inversely related to baseline cIMT and previous use of statins, and positively with age and CVD risk factors during the follow-up. Patients previously treated with statins may not be the preferred candidates for atherosclerosis regression trials. Treatment recommendations in ADH should be based on baseline risk.