DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Von Willebrand Disease

LOW SEVERITY

The most common inherited bleeding disorder, caused by deficiency or dysfunction of von Willebrand factor (vWF), essential for platelet adhesion and as carrier for factor VIII. Three main types with varying severity.

Global Affected

150.0M

Countries

18

Symptoms

Easy bruising
Nosebleeds
Heavy menstrual periods
Prolonged bleeding from cuts
Bleeding gums
Blood in urine/stool
Prolonged bleeding after surgery/dental work

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent with proper management. Type 1 (mild): normal life expectancy, treatment only for surgery or significant bleeding. Type 2: moderate severity, treatment during bleeding episodes and procedures. Type 3 (severe): regular prophylactic treatment may be needed, life expectancy near normal with care. Desmopressin effective for Types 1 and some 2. VWF concentrate available for all types. Pregnancy usually well-tolerated. Dental and surgical procedures manageable with planning. Quality of life excellent with education and preparation.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Desmopressin (DDAVP) for mild cases. vWF concentrate replacement for severe cases. Antifibrinolytics (tranexamic acid) helpful. Gene therapy in development. Most patients lead normal lives with treatment.

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

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