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. 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.
Hilberg
T
T
Policlinic for Preventive and Rehabilitative Sports Medicine, Technische Universität München, Germany. Thomas.Hilberg@lrz-muenchen.de
Moessmer
G
G
Hartard
M
M
Jeschke
D
D
D020016:Activated Protein C Resistance / Q000235:genetics*; D000328:Adult; D001780:Blood Coagulation Tests; D005165:Factor V / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D013177:Sports
C095381:factor V Leiden; D005165:Factor V