PT  - JOURNAL ARTICLE
AU  - Stefan Mülverstedt
AU  - Per Rossen Hildebrandt
AU  - Eva Prescott
AU  - Merete Heitmann
TI  - Screening for potential familial hypercholesterolaemia in general practice; Management and potentials
AID  - 10.3399/bjgpopen20X101142
DP  - 2020 Nov 17
TA  - BJGP Open
PG  - bjgpopen20X101142
4099  - http://bjgpopen.org/content/early/2020/11/12/bjgpopen20X101142.short
4100  - http://bjgpopen.org/content/early/2020/11/12/bjgpopen20X101142.full
AB  - 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.