The Characteristics of Patients with Probable Familial Hypercholesterolemia- Screening a Large Payer/Provider Healthcare Delivery System

Objectives: To use electronic medical records to describe the characteristics of a population with probable familial hypercholesterolemia (FH).

Study Design and Setting: A cross-sectional study of Clalit Health Services (CHS) members as of January 01, 2018. Subjects were designated as probable FH according to the General Population MED-PED laboratory criteria, excluding: age <10 years, those with documentation of any of the following: 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. The patient characteristics at time of diagnosis are described and compared to the general population. Health status following diagnosis is also included.

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 is 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.

Conclusion: By using the modified MED-PED criteria, patients with probable FH could be automatically flagged for intervention and treatment.