QJM: Monthly Journal of the Association of Physicians, 2019. [Epub ahead of print]
Elis A, Leventer-Roberts M, Bachrach A, Lieberman N, Durst R, Knobler H, Balicer R.
Background: Familial Hypercholesterolemia (FH)is an under-diagnosed condition.
Aim: We applied standard laboratory criteria across a large longitudinal electronic medical record database to describe cross-sectional population with possible FH. Methods A cross-sectional study of Clalit Health Services (CHS) members. Subjects who met the General Population MED-PED laboratory criteria, excluding: age <10 years, documentation of thyroid, liver, biliary or autoimmune diseases, a history of chronic kidney disease stage 3 or greater, the presence of urine protein >300 mg/L, HDL-C>80 mg/dL, active malignancy or pregnancy at the time of testingwere considered possible FH. Demographic and clinical characteristics are described at time of diagnosis and at a single index date following diagnosis to estimate the burden on the healthcare system. The patient population is also compared to the general population. Results The study cohort included 12,494 subjects with out of over 4.5 million members of CHS. The estimated prevalence of FH in Israel was found to be 1:285. These patients are notably positive for, and have a family history of, cardiovascular disease and risk factors. For most of them the LDL-C levels are not controlled, and only a quarter of them are medically treated. Conclusions By using the modified MED-PED criteria in a large electronic database, patients with possible FH can be identified enabling early intervention and treatment.