Clinical and genetic characteristics of familial hypercholesterolemia at sultan qaboos university hospital in Oman

Objectives: We sought to describe the clinical and genetic characteristics of patients with familial hypercholesterolemia (FH) that presented to the lipid clinic at Sultan Qaboos University Hospital, Muscat, Oman.

Methods: Patients who presented with high low-density lipoprotein cholesterol (LDL-C) levels (> 189.0 mg/dL or 4.9 mmol/L) were recruited to the study. FH was diagnosed according to the Dutch Lipid Clinic Network criteria. Analyses were performed using univariate statistics.

Results: The study enrolled 450 patients with a mean age of 48.0±12.0 years, 56.0% (n = 252) were males and 11.3% (n = 51) were smokers. At admission, the proportion of 'probable/definite', 'possible', and 'unlikely' FH were 27.6% (n = 124), 70.0% (n = 315), and 2.4% (n = 11), respectively. Overall, 26.0% (n = 117) of patients had hypertension, 22.4% (n = 101) had a history of coronary artery disease, and 17.3% (n = 78) had diabetes mellitus. Those with 'probable/definite' FH were more likely to be prescribed high-intensity statin therapy (75.8% vs. 54.5%; p < 0.001) and statin ezetimibe combination (50.8% vs. 27.3%; p < 0.001) when compared to the 'unlikely' FH cohort. Additionally, those with very high atherosclerotic vascular disease (ASCVD) risk were also associated with high-intensity statin therapy (54.7% vs. 42.7%; p = 0.006) and statin ezetimibe combination (26.4% vs. 17.2%; p = 0.023). Patients with 'probable/definite' FH were less likely to achieve their LDL-C goal attainment compared to those with 'unlikely' FH (13.0% vs. 57.1%; p < 0.001). Furthermore, those with very high ASCVD risk were less likely to achieve their LDL-C goals compared to the high ASCVD risk cohort (9.6% vs. 32.0%; p < 0.001).

Conclusions: FH patients are underdiagnosed, undertreated, and less likely to attain their LDL-C goals in Oman.