Resident Physician University of Calgary Calgary, Alberta, Canada
Background: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism that leads to life-long elevations in low-density lipoprotein cholesterol (LDL-C) and this defect underlies a high risk for early development of atherosclerotic cardiovascular disease (ASCVD). In this cohort study, we investigated the patient characteristics, utilization of lipid lowering therapies and the response rate in terms of achieving LDL-C targets in patients with FH treated at the ambulatory FH clinic of the University of Calgary, in Calgary, Alberta.
METHODS AND RESULTS: Patients with suspected FH (possible, probable or definite based on the Dutch Lipid Clinic Network Criteria (DLCNC) score) were enrolled in our FH clinic. Demographic, clinical, laboratory, and imaging data were assessed for each patient. The primary outcome of interest was the LDL-C goal attainment which was defined as ≥50% reduction in LDL-C from baseline and an LDL-C < 1.8 mmoL/L in patients with FH without concurrent ASCVD or LDL-C < 1.4 mmoL/L in patients with FH and concurrent ASCVD. A total of 164 patients with suspected FH (mean age 48.3 ± 14.5 years, 50.6% female) were enrolled. Definite and probable FH were identified in 52 (31.7%) and 48 (29.2%) patients, respectively. The median (IQR) DLCNC score was 6 (4, 8). Genetic testing was performed in 81 (49.3%), with pathogenic LDLR mutations being most common (55%). Cascade screening was offered or performed in 61 (37.1%), and dietitian follow-up in 54 (32.9%) patients. Roughly 10% of the patients had no medication coverage. Statins, ezetimibe, PCSK9 inhibitors, and inclisiran were used by 79.3%, 63.4%, 25%, and 5.5% of patients, respectively. Over a median 123-day follow-up, 111 (67.6%) achieved ≥50% LDL-C reduction, and 39 (23.8%) met defined target goals. Side effects occurred in 32.9% of patients who were treated with statins (mostly myalgia, 26.8%), and 5.4% of those treated with ezetimibe.
Conclusion: While majority of patients achieved significant LDL-C reductions with lipid-lowering agents during follow-up, attaining target goals remained suboptimal mostly arising from access issues or medication side effects. Personalized strategies are needed to mitigate side effects, and improve adherence and access to treatments.
