Referral rate, profile and degree of control of patients with familial hypercholesterolemia. Data from a single lipid unit from a Mediterranean area

Abstract

Abstract Background The challenging rigorous management of hypercholesterolemia promotes referral to specialized units. This study explored the need, based on referral rate and cardiovascular (CV) risk factors control in patients evaluated for familial hypercholesterolemia (FH), for a lipid unit (LU). Methods Of a 4-year period, 340 referrals to our unit were analysed to establish lipid disorders referral rate. Moreover, 118 patients referred for potential FH during the period 2010–2018 (52.4 ± 13.9 years, 47.5% male, Caucasian, 25.4% obese, 33.1% smokers and 51.6% with some glycaemic alteration) were investigated. The Dutch Lipid Clinic Network (DLCN) score, type and dose of lipid-lowering drugs, lipid profile including lipoprotein (a) (Lp(a)) and the presence of plaques with carotid ultrasound (CU) were recorded. Results Lipids represented 6.2% of referrals (38 patient-years) requiring a 2–3 hour weekly monographic outpatient consultation. Potencial FH sample displayed DLCN score ≥ 6 in 78% and modifiable CV risk factors in 51%. Only 22% achieved tight disease control despite intensive treatment. Statin-ezetimibe combination treatment group achieved better goal (73.0% vs. 45.5%, p = 0.003) and rosuvastatin group higher proportion of prediabetes (60.9% vs. 39.1%, p = 0.037). Neither CU nor Lp(a) positivity linked with established CV disease patients but higher Lp(a) concentrations were detected between them (102.5 (26.3–145.8) vs. 25.0 (13.0–52.0), p = 0.012). Conclusions Referral rate, degree of control, and proportion of modifiable CV risk factors in FH patients demonstrate the need for a LU in our area as well as changes in treatment and management.