FACTOR V LEIDEN MUTATION

Course overview

FACTOR V LEIDEN (FVL) IS A POINT MUTATION OF FACTOR V RESULTING IN AN ELIMINATION OF THE CLEAVAGE SITE IN FACTOR V AND FACTOR VA. THIS GENETIC DEFECT INCREASES THE RISK OF THROMBOSIS, ESPECIALLY IN HOMOZYGOUS OR PSEUDO-HOMOZYGOUS FVL-MUTATED INDIVIDUALS. MANY INDIVIDUALS WITH THE MUTATION WILL NEVER DEVELOP A VENOUS THROMBOTIC EVENT (VTE). THE DECISION ABOUT VTE RISK REDUCTION (BOTH PRIMARY AND SECONDARY) REQUIRES A GREAT DEAL OF CLINICAL ACUMEN, GIVEN THAT MOST PEOPLE WHO CARRY THE MUTATION WILL NEVER HAVE VTE. FVL IS AN AUTOSOMAL DOMINANT GENETIC CONDITION THAT EXHIBITS INCOMPLETE PENETRANCE, MEANING THAT NOT EVERY PERSON WITH THE MUTATION WILL DEVELOP THE DISEASE. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY AND IMPLICATIONS OF FACTOR V LEIDEN AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT.