Clinical Sciences and Orthopaedics: Case Report Homozygous APC Resistance in an Elite Athlete

We report the case of a 31 year old female elite athlete. During a routine check-up including a search for hereditary hemostatic risk factors for thrombosis, resistance to activated protein C was detected. Molecular analysis of the factor V gene revealed homozygosity for the factor V Leiden mutation...

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Bibliographic Details
Published in:International journal of sports medicine 1999-04, Vol.20 (3), p.198-200
Main Authors: Hilberg, T., Moessmer, C., Hartard, M., Jeschke, D.
Format: Article
Language:English
Subjects:
Activated Protein C Resistance - genetics
Adult
Biological and medical sciences
Blood and lymphatic vessels
Blood Coagulation Tests
Cardiology. Vascular system
Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous
Factor V - genetics
Female
Homozygote
Humans
Medical sciences
Orthopedics and Clinical Science
Point Mutation
Sports
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Summary:We report the case of a 31 year old female elite athlete. During a routine check-up including a search for hereditary hemostatic risk factors for thrombosis, resistance to activated protein C was detected. Molecular analysis of the factor V gene revealed homozygosity for the factor V Leiden mutation. This is the first documented case of an elite athlete who is a homozygous carrier of factor V Leiden. Elite athletes may be exposed to several circumstantial thrombogenic risk factors and, therefore, special preventive measures in carriers of a congenital risk factor such as APC resistance are indicated. Essential measures are early anticoagulation during periods of immobilisation e.g. after sports-related injuries, a single dose of low-molecular-weight heparin specially for individuals with several thrombotic risk factors and/or leg muscle exercises for long-distance (air) travels and avoiding haemoconcentration with a sufficient oral fluid intake.
ISSN:0172-4622
1439-3964
DOI:10.1055/s-1999-970289