Screening for potential familial hypercholesterolaemia in general practice; Management and potentials.

BACKGROUND: Familial Hypercholesterolaemia (FH) is a common genetic disorder causing premature cardiovascular disease (CVD). The estimated prevalence of probable or definite FH according to the Dutch Lipid Clinic Network (DLCN) Criteria for FH is 1:200-250 individuals. In Denmark approximately 12% are identified.

AIM: To provide knowledge of the prevalence and management of FH in general practice.

DESIGN AND SETTING: A collaboration between six General Practitioners and the department of cardiology, Bispebjerg hospital.

METHODS: We screened 9,652 patient records for hypercholesterolaemia. All patients with an LDL-C ≥ 5.0 mmol/L were included in the study population and their record were investigated in order to perform a diagnostic score according to the DLCN criteria.

RESULTS: 2,382 individuals had a lipid measurement available, and 236 of those had an LDL-C ≥ 5.0 mmol/L. In total 34 individuals were found to have probable or definite FH (DLCN score ≥ 5). Only three individuals had been diagnosed and treated with lipid lowering therapy. Of 236 individuals with high LDL-C only 25 individuals met their treatment target. By excluding patients with signs of secondary hypercholesterolaemia we established a subgroup of 115 individuals with potential primary hypercholesterolaemia. Among those, 21 individuals were found to have probable or definite FH (1:114 individuals).

CONCLUSION: Our study shows that there is a massive lack of recognition of FH in general practice. Despite a measured high LDL-C, the diagnosis is rarely made and only few patients are treated accordingly. Of the patients undergoing treatment, only a few reaches their treatment target.