Factor V Leiden thrombophilia

Factor V Leiden thrombophilia is a point mutation and autosomal dominant genetic condition. This genetic defect increases the risk of thrombophilia in homozygous Factor V Leiden mutations. It is also known as factor VR506Q and factor V Arg506 Gln, resulting from a single-point mutation in the factor V gene. People with this mutation can get deep vein thrombosis that occurs in the legs but can travel anywhere in the body if they break away and can lodge there like the lungs: eyes, liver, brain, and kidney. If they travel and get stuck in the lungs it is a pulmonary emboli but 10 percent of people with this condition never develop abnormal clots. The F5 Gene provides instructions for making proteins called coagulation Factor V. It plays a critical role in the coagulation system. The chemical reactions form blood clots in response to injury. The coagulation system is also controlled by other proteins including activated protein C. Normally APC inactivates coagulation Factor V which slows down the clotting process and prevents clots from growing too large but in people with Factor V Factor V cannot be inactivated normally by APC

Sources

https://www.nationwidechildrens.org/conditions/factor-v-leiden

https://medlineplus.gov/genetics/condition/factor-v-leiden-thrombophilia/#inheritance

https://www.ncbi.nlm.nih.gov/books/NBK534802/