Factor V Mutation or Factor 5 Mutation ; Causes, Diagnosis, Symptoms, Treatment скачать в хорошем качестве

Factor V Mutation or Factor 5 Mutation ; Causes, Diagnosis, Symptoms, Treatment

Factor V Mutation (Factor V Leiden) Overview Factor V Leiden is a genetic mutation affecting the factor V gene, leading to an increased risk of blood clots (thrombophilia). Causes 1. Autosomal dominant inheritance 2. Point mutation (G1691A) in the factor V gene (F5) 3. Resistance to activated protein C (APC) Symptoms 1. Deep vein thrombosis (DVT) 2. Pulmonary embolism (PE) 3. Recurrent miscarriages 4. Stroke 5. Myocardial infarction 6. Peripheral artery disease Types 1. Heterozygous: one mutated allele (increased risk) 2. Homozygous: two mutated alleles (higher risk) Diagnosis 1. Genetic testing (PCR, sequencing) 2. Blood tests: Activated partial thromboplastin time (aPTT) Prothrombin time (PT) APC resistance assay 3. Imaging studies (e.g., ultrasound, CT scans) Treatment 1. Anticoagulation therapy: Warfarin Low-molecular-weight heparin (LMWH) Direct oral anticoagulants (DOACs) 2. Lifestyle modifications: Avoid prolonged immobility Maintain healthy weight Regular exercise 3. Preventative measures: Prophylactic anticoagulation during surgery or pregnancy Complications 1. Recurrent thrombosis 2. Post-thrombotic syndrome 3. Pulmonary hypertension 4. Chronic thromboembolic pulmonary hypertension #mutation