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Factor V Leiden

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Overview

Factor V Leiden is a genetic mutation affecting one of the clotting factors in blood, increasing the propensity for abnormal blood clots, typically in the legs or lungs. While many carriers remain asymptomatic, those who develop clots face potential long-term health risks.

Types of Factor V Leiden

  1. Heterozygous Factor V Leiden:
    • Carrying one mutated gene.
  2. Homozygous Factor V Leiden:
    • Inheriting mutated genes from both parents, leading to significantly increased clotting risk.

Causes of Factor V Leiden

Genetic Mutation:

  • Mutation in the factor V gene (F5) leads to resistance to activated protein C (APC), increasing clotting tendency.

Risk Factors of Factor V Leiden

 

  • Inherited Gene Mutation:
    • Presence of factor V Leiden gene mutation.
  • Estrogen Use:
    • Higher risk in women using estrogen-containing medications.
  • Pregnancy:
    • Elevated risk during pregnancy and postpartum due to hormonal changes.

 

Symptoms of Factor V Leiden

1. Leg Pain or Swelling: Deep vein thrombosis (DVT) symptoms.
2. Shortness of Breath: Pulmonary embolism (PE) symptom.
3. Chest Pain or Discomfort: Indicates a potential pulmonary embolism.
4. Redness or Warmth: Skin changes over affected veins.

Preventions of Factor V Leiden

 

  • Avoiding Estrogen Use:
    • Especially in women with a history of clots.
  • Regular Movement:
    • Prevents stasis in leg veins.
  • Early Ambulation Post-Surgery:
    • Reduces clotting risk.

 

Diagnosis of Factor V Leiden

 

  • Genetic Testing:
    • Confirms presence of factor V Leiden mutation.
  • Ultrasound:
    • Detects DVT in affected limbs.
  • CT Pulmonary Angiography:
    • Identifies PE in lungs.

 

Treatment for Factor V Leiden

 

  • Anticoagulant Therapy:
    • Initial Phase: Heparin to prevent clot growth.
    • Long-term: Warfarin or direct oral anticoagulants.
  • Compression Stockings:
    • Aid in preventing post-thrombotic syndrome.
  • Surgical Interventions:
    • Thrombectomy in severe cases.

 

When to seek medical attention ?

Immediately Seek Medical Help If:

  • Sudden onset of chest pain or shortness of breath.
  • Severe leg pain or swelling.