von Willebrand disease Disease
About Gene:
Von Willebrand disease is a congenital and lifelong bleeding disorder. Patients with von Willebrand disease are unable to form healthy blood clots and are prone to internal bleeding. The disease is associated with faulty production of von Willebrand protein, a major component in the blood clot forming biochemical process.
Number of Patients: 1
Disease Causing Genes:
Sign and Symptoms:
- Upper gastrointestinal bleeding (GI)
- Hematemesis
- Mucosal Bleeding
- epistaxis
- Prone to brusing
- postpartum hemorrhage,
- joint bleeding
- gastrointestinal bleeding
Diagnosis:
(1) Medical history collection (2) Biochemical tests (3) Endoscopy (4) Bone marrow study (5) von Willebrand factor antigen assay
Preventions:
Treatment:
Symptomatic treatment includes : - desmopressin acetate and tranexamic acid - prophylactic therapy in minor surgery - Desmopressin nasal spray