ESPE Yearbook of Paediatric Endocrinology

J Clin Lipidol. 2021 Sep-Oct;15(5):682-689. PMID: 34593357 doi: 10.1016/j.jacl.2021.09.045

Brief summary: This online survey of cardiologists and primary care physicians, conducted by the National Lipid Association, revealed the need to improve awareness, knowledge and treatment of heterozygous familial hypercholesterolemia (HeFH).

Comment: HeFH is an autosomal dominant disorder and the most common inherited cause of premature coronary heart disease. About one in 250 people may have HeFH. In affected persons, atherosclerosis begins at a young age, and untreated children are at a substantially high risk of premature CVD after age 20 years. Even moderate hypercholesterolemia increases the long-term risk of a CVD event. However, huge gaps exist between the progress of science, down to the detail of understanding mechanisms at the cellular and molecular level, the development of advanced drugs to treat hyperlipidemia, and the reality and everyday life.

This online survey of 500 cardiologists and 500 primary care physicians was conducted to assess their recognition of HeFH and its treatment. When asked about the most likely diagnosis of a 30-year-old man with an LDL-C level >230 mg/dl and a family history of premature CVD, only 57% of cardiologists and 43% of primary care physicians correctly suggested HeFH. Even once recognized, the responses indicated inadequate treatment of HeFH.

Recently, a hybrid model consisting of two existing HeFH criteria coupled with electronic medical record data was suggested to improve HeFH diagnosis and subsequent early access to appropriate treatment¹. Developing an electronic medical record system with automated laboratory and imaging reports would undoubtedly offer intuitive clinical decision support systems to enable doctors to make better treatment decisions in real-time.

Reference: 1. Wael E Eid, Emma Hatfield Sapp, Abby Wendt, Amity Lumpp, Carl Miller, Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model, The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 4, April 2022, Pages 1078–1090, https://doi.org/10.1210/clinem/dgab873.