Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting

Heterozygous familial hypercholesterolemia (FHeH) is important risk factor for premature coronary artery disease (CAD). Strategies for its diagnosis and prevalence have not been well studied in India. We performed healthcare worker-based opportunistic screening to assess feasibility for determining its prevalence.

A healthcare worker was trained in use of Dutch Lipid Clinic Network (DLCN) criteria for diagnosis of FHeH. Successive eligible individuals (n = 3000 of 3450 screened) presenting to biochemistry laboratories of two hospitals for blood lipid measurements were evaluated for FHeH. Cascade screening or genetic studies were not performed. Descriptive statistics are reported.

We included 2549 participants (men 1870, women 679) not on statin therapy. Health worker screened 25-30 individuals/day in 6-10 minutes each. The mean age was 46.2±11y. Variables of DLCN criteria were more in women vs men: family history 51.1 vs 35.6%, past CAD 48.2 vs 20.1%, arcus cornealis 1.1 vs 0.3%, tendon xanthoma 0.3 vs 0.1%, and LDL cholesterol 190-249 mg/dl in 8.5 vs 2.4%, 250-329 mg/dl in 0.7 vs 0% and ≥330 mg/dl in 0.3 vs 0% (p<0.01). Definite FHeH (DLCN score >8) was in 15 (0.59%, frequency 1:170) and probable FHeH (score 6-8) in 87 (3.4%, frequency 1:29). The prevalence was significantly greater in women, age <50y and in those with hypertension, diabetes and known CAD.

Healthcare worker-led opportunistic screening for diagnosis of FHeH using DLCN criteria is feasible in low-resource settings. The results show significant prevalence of clinically detected definite and probable FHeH in the population studied.