QJM. 2020 Jun 1;113(6):411-417. doi: 10.1093/qjmed/hcz327.
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 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 testing were 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 Clalit Health Services. 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.