DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA: A WORK IN PROGRESS

Abstract

Therapeutic Area: ASCVD/CVD in Special Populations Background: An ICD-10 code for Familial Hypercholesterolemia (FH), E78.01, became effective October 2016 following a proposal by the Family Heart Foundation. It differentiated FH from other forms of elevated cholesterol with a goal of increasing assessment of this treatable genetic condition. Prior to E78.01, 7 days apart, for an out-patient claim. The number of total (diagnosed + undiagnosed) FH patients within the dataset was estimated assuming an occurrence of 1:250 individuals. Results: Patients diagnosed with FH using E78.01 has increased substantially since 2016. During 2017 and 2018, use of the code was brisk and likely included previously and newly diagnosed individuals. Diagnosis was reduced dramatically with the onset of the COVID-19 pandemic corresponding with the marked reduction of in-person clinic visits and near halting of preventive care. By June 2020, 246,689 FH patients were diagnosed representing 31.3% of the estimated total (diagnosed + undiagnosed) FH population of 787,886 within the dataset. At the time of E78.01 code assignment, 52% of diagnosed FH patients were female; 51% were aged 18 to 65 years, 47% were >65 years; they were Black (8%), Hispanic (5%), White (54%), and Other/Unknown (33%); 40% had ASCVD and household income ranged from $100K (20%). Conclusion: The number of patients diagnosed with FH (E78.01) has increased substantially since 2016. Within this large, real-world dataset of Americans, 31.3% of the estimated FH population had been diagnosed as of Jun 2020. However, most FH patients remain undiagnosed, delaying treatment and cascade screening. The rate of diagnosis was also hampered by the COVID-19 pandemic.