Improving the clinical diagnosis of familial hypercholesterolemia among patients attending diabetes and cardiology clinics

Background and aims: Familial Hypercholesterolemia (FH) is a common autosomal dominant disorder that remains largely underdiagnosed globally (<10 %). Suspected FH cases are commonly identified using the Dutch Lipid Clinic (DLCN) and Simon Broome (SB) criteria, while the FH case ascertainment tool (FAMCAT) has been recently developed as a predictive algorithm for improving FH detection. Qatar has a high FH prevalence (1 in 125) in the general population. We determined FH prevalence and compared clinical presentation among Qatari patients with diabetes and heart disease, and between sexes. Methods: We applied the DLCN and SB criteria, and FAMCAT algorithm on data captured from a clinical cohort of native Qatari subjects (n = 501), recruited from two hospital-based clinics: diabetes and cardiology. Results: DLCN criteria stratified 12.6 % (95 % CI [10.0, 15.8]) as definite and 21.8 % [18.4, 25.6] as probable FH cases. SB classified 4.8 % [3.2, 7.0] as definite and 17.2 % [14.1, 20.7] as possible FH, while FAMCAT identified 35.5 % [31.5, 39.8] as suspected FH cases. DLCN showed a higher incidence of definite/probable FH in the diabetes clinic, while SB and FAMCAT identified similar proportion of definite/suspected FH cases between clinics. The three tools showed similar FH stratification between sexes. Conclusions: The prevalence of likely FH cases among diabetes and cardiology patients in Qatar was estimated at ∼1 in 3–4 patients, depending on the diagnostic criteria. Applying FH case-finding tools in hyperlipidemia patients can enhance detection rates and help mitigate FH-related morbidity and mortality through timely intervention.