We thought athletes are healthy, but why some of them still have heart problems?

If you are an active person and always practise a healthy diet, it is not a promise that you are not going to have high cholesterol in the future. Although exercise has been shown to reduce cholesterol level, many athletes have been reported to have heart diseases with unexpected high cholesterol.1

Have you heard about familial hypercholesterolemia?

It is an inherited genetic disorder which causes high level of low-density lipoprotein cholesterol (LDL-C), the bad cholesterol, in the blood circulation. The disorder can be dangerous and life-threatening if you do not practice the right management. It can lead to early heart problem associated morbidity and mortality. If you have genetic variations related to familial hypercholesterolemia, you are having a higher risk of getting heart related problems.

There are few genes related to familial hypercholesterolemia; LDLR, ApoB, PCSK9 and LDLRAP1. The mutations of the genes lead to decreased function of low-density lipoprotein (LDL) receptor. LDLR genes mutation commonly happens among patients with familial hypercholesterolemia which contributes to 85-90% of the cases. The mutations in LDLR gene cause malfunction of LDL receptors and the ability to clear LDL-C from the blood circulation.2 LDL-C is considered as ‘bad cholesterol’ which can cause deposition of cholesterol in the bloodstream and leads to heart attack and stroke.

It was recommended for patients suggestive of familial hypercholesterolemia or with high cholesterol to do a genetic test before further treatments are prescribed. Genetic test allows the identification of homozygous or heterozygous genetic condition that leads to familial hypercholesterolemia. Once the patient has been found to carry the genetic mutation causing familial hypercholesterolemia, genetic testing is also indicated for first-, second- and third-degree relatives to identify affected relatives.3 Patients with familial hypercholesterolemia have a different target value of LDL-C, which is <2.6 mmol/L as an optimal target in adults. If coupled with cardiovascular disease or type 2 diabetes, the LDL-C target should be <1.8 mmol/L.4

Management of patient with familial hypercholesterolemia is more effective with a combination of genetic testing and clinical approach strategies which allow a more accurate identification of the familial hypercholesterolemia.3


  1. University of British Columbia. (2018, August 31). Even the fittest middle-aged athletes can’t outrun cardiovascular risk factors. ScienceDaily. Retrieved July 11, 2020 from
  2. Bouhairie, V. E., & Goldberg, A. C. (2015). Familial hypercholesterolemia. Cardiology clinics33(2), 169–179.
  3. Migliara, G., Baccolini, V., Rosso, A., D’Andrea, E., Massimi, A., Villari, P., & De Vito, C. (2017). Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management. Frontiers in public health5, 252.
  4. Alonso, R., Perez de Isla, L., Muñiz-Grijalvo, O., Diaz-Diaz, J. L., & Mata, P. (2018). Familial Hypercholesterolaemia Diagnosis and Management. European cardiology13(1), 14–20.

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