Familial hypercholesterolemia (FH) is underdiagnosed, physicians from an electronic medical record (EMRs) were alerted to LDL-C levels>190mg/dL and invited to complete the Dutch Lipid Clinic Network score (DLCN).

Describe characteristics, comorbidities and clinical management of patients diagnosed with definite or probable FH in an ambulatory care setting.

All patients with a DLCN score of definite/probable FH (score higher or equal than 6) between January 2016 and September 2018 were identified in the THIN® database (The Health Improvement Network; an anonymized EMR powered by GERSDATA, a Cegedim Health Data Division). These fully anonymized data were collected by 2000General Practitioners, 130cardiologists and 40endocrinologists, receiving 5.5million patients regularly in their office.

From 999anonymous patients with a DLCN score, 98 (10%) FH patients were identified (38 [39%] definite FH, 60 [61%] probable FH), 9 (9%) of whom already had genetic testing. Mean (SD) age was 57.4 (14.3)years; 56 (57%) patients were female, half (51/98 [52%]) were diagnosed with pure hypercholesterolemia (ICD-10 code: E78.0) and 9 (9%) had a history of CV event. Sixty patients (61.2%) had LDL-C between 190 to 250mg/dL and 16 (16.3%) had LDL-C higher than 250mg/dL. At the time of DLCN assessment, one third (30/98 [31%]) of patients were not receiving any LLT, one third (34/98 [35%]) were receiving statins alone, 19% [19/98) receiving LLT combination with statin, and 15 (15%) other LLTs. Moderate statin intensity was prescribed in 20% (20/98) of patients; high intensity statin, 17%, (17/98); low intensity, 10% (10/98). No improvement on LLT use (including use of high statin intensity) was observed over the 12-month follow-up.

This is the first study in France that use EMR to screen possible FH patients. Our data highlight the need to screen, diagnosis and treat potential FH patients in ambulatory care settings.