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 similar to 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.