DISEASE SCANNER

Global Incurable Diseases Tracker

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Hematologic Disorder

Factor V Leiden Thrombophilia

MODERATE

The most common inherited blood clotting disorder, caused by a mutation in the F5 gene that makes factor V resistant to inactivation by protein C. Increases risk of venous thrombosis.

Global Affected

5.0M

Countries

15

Symptoms

Often asymptomatic until clot forms
Deep vein thrombosis (leg pain, swelling)
Pulmonary embolism (chest pain, shortness of breath)
Superficial venous thrombosis
Recurrent pregnancy loss

Treatment Options

Anticoagulation (warfarin, DOACs)
Low molecular weight heparin
Aspirin (selected cases)
Compression stockings
Thromboprophylaxis during high-risk periods

Risk Factors

1Heterozygous F5 mutation (5% of population)
2Homozygous F5 mutation (<1%)
3Oral contraceptives (35x increased risk)
4Hormone replacement therapy
5Pregnancy and postpartum
6Surgery or immobilization
7Smoking
8Obesity

Diagnostic Methods

  • 1Activated protein C resistance test
  • 2Factor V Leiden genetic test
  • 3D-dimer (during suspected clot)
  • 4Doppler ultrasound (DVT diagnosis)
  • 5CT pulmonary angiography (PE diagnosis)

Prognosis

Generally good with awareness and prevention. Heterozygotes: 5-10% lifetime risk of thrombosis (vs 1% general population). Homozygotes: 80x increased risk. Most never develop clots with risk factor avoidance. Recurrence risk 30-50% after first clot. Pregnancy outcomes good with prophylaxis. Life expectancy near normal with proper management. No impact on overall health if clots prevented.

Prevention

  • Avoid oral contraceptives and HRT
  • Thromboprophylaxis during pregnancy
  • Mobilization after surgery
  • Compression stockings for travel
  • Weight management
  • Smoking cessation

Research Status

Anticoagulation during acute thrombosis. Extended prophylaxis after first clot. Low molecular weight heparin during pregnancy and postpartum. Aspirin for some patients with additional risk factors.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoIndiaChinaSwedenNetherlands

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1368
  • https://www.cdc.gov/ncbddd/dvt/facts.html
  • https://rarediseases.org/rare-diseases/factor-v-leiden

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.