Hereditary thrombophilia in elite athletes

Although under normal circumstances exercise prevents thrombosis, there are cases in the literature that indicate a connection between exercise and the onset of thrombosis. In the average population, hereditary thrombophilia is a major cause of thrombosis. However, nothing is known about the prevalence of hereditary thrombophilia in elite athletes. Because high-performance sports are known to carry an increased risk of thrombogenesis, measures to avoid thrombosis must be initiated in cases of known hereditary thrombophilia.

Hereditary thrombophilia was checked for in 173 elite athletes, members of the German national team. Antithrombin III, protein C, protein S, and the APC ratio, followed by a molecular genetic analysis, were measured, and molecular analysis of factor II G20210A mutation was used to detect the presence of an antithrombin III-, protein C- and protein S-deficiency, as well as factor V Leiden (factor V 506Arg to Gln) and factor II G20210A mutation.

No definite antithrombin III-, protein C- or protein S-deficiency was found. In 12 cases, an APC resistance caused by a factor V Leiden mutation (11 heterozygous; 1 homozygous) was detected. In 10 cases, a heterozygous factor II G20210A was observed; a combination of both mutations was not found. For factor V Leiden, this corresponds to a prevalence of 6.9% (CI 95% 3.6-11.8%) in our group, similar to prevalence rates in the general population. Additionally, the observed prevalence of 5.8% (CI 95% 2.8-10.4%) of factor II G20210A is nearly within the range as reported by several authors.

Based on the observed prevalence of APC resistance and factor II G20210A mutation in our group of athletes, along with consideration of additional circumstantial risks, screening tests for elite athletes should be considered to allow the undertaking of preventive measures.