Screening for familial hypercholesterolaemia; extending a role for blood programs in promoting public health

Autor: S Eason, A Khera, O Gore, M H Sayers
Rok vydání: 2022
Předmět:
Zdroj: European Heart Journal. 43
ISSN: 1522-9645
0195-668X
Popis: Background Familial hypercholesterolaemia (FH) is a genetic disorder characterized by high levels of cholesterol with evidence of coronary arterial disease at an early age. The prevalence of FH has been recently reported as 1/200 to 1/250 in the general population and although early identification and treatment is recommended (2019 ESC/EAS Guidelines for the Management of Dyslipidaemias), the disorder is largely underdiagnosed in asymptomatic individuals.1 A number of blood programs has recognised the opportunity that blood donation provides to identify ostensibly healthy individuals who might be unaware of risks to their health. These programs have included, along with mandated serological testing, such assays as non-fasting total cholesterol (TC) and haemoglobin A1C. They have also taken steps to notify individuals whose results suggest risk for cardiovascular disease or diabetes. Purpose Since our blood donation program has a long history of providing donors information about their TC, we tested whether some donors with elevated TC met the criteria for FH. Methods We reviewed unlinked total non-fasting cholesterol results from volunteers donating between 2015 and June 2019. Cholesterols were measured on a chemistry analyzer system (Beckman Coulter AU680) on residual blood after routine testing for infectious disease markers. For volunteers donating more than once, we included only their highest TC recording. TC was classified by American Heart Association (AHA) 2020 Goal Metrics as high, if ≥240 mg/dL (6.2 mmol/L) in donors ≥20 years of age and ≥200 (5.1 mmol/L) in donors Results There were 432,389 unique donors during the study period. The overall prevalence of high cholesterol, 11.1% and the prevalence of FH 0.24% are similar to published data for the general population. As shown in the table, the prevalence of FH was highest in blood donors 20 to 29 years of age and was lower in those over 30 years, while the prevalence of high TC was higher in older age groups. Conclusion There is a subset of blood donors, at all ages who can be identified as satisfying familial hypercholesterolaemia criteria that could benefit from additional evaluation and family screening. A sizeable proportion of blood donors have high cholesterol despite not having FH. Funding Acknowledgement Type of funding sources: None.
Databáze: OpenAIRE