Von Willebrand Disease is a genetic bleeding disorder caused by a deficiency or dysfunction of the von Willebrand factor (vWF), a protein crucial for blood clotting. This factor helps platelets stick to the blood vessel wall and to each other, which is essential for proper blood clot formation. In the absence or malfunction of vWF, bleeding episodes can be prolonged due to inadequate clot formation.
Laboratory Tests
Von Willebrand Factor Antigen: Measures the amount of von Willebrand factor in the blood.
Ristocetin Cofactor Activity: Assesses the functionality of the von Willebrand factor.
Factor VIII Levels: Evaluates the levels of factor VIII, which are often low in von Willebrand Disease.
Platelet Function Tests: Determines how well platelets are working.
Genetic Testing: Identifies mutations in the VWF gene that cause the disease.
Imaging Studies
Bleeding Time Test: Measures how long it takes for small blood vessels to close and stop bleeding.
Other Clotting Tests: To assess overall blood clotting ability and pinpoint abnormalities specific to von Willebrand Disease.
Frequent nosebleeds.
Easy bruising.
Prolonged bleeding from cuts.
Excessive bleeding during or after surgery or dental work.
Heavy or prolonged menstrual bleeding (menorrhagia).
Blood in urine or stool.
Bleeding from gums.
Joint or muscle bleeding (in severe cases).
Treatment for von Willebrand Disease aims to prevent and control bleeding episodes.
Desmopressin (DDAVP): A synthetic hormone that stimulates the release of stored von Willebrand factor and factor VIII, used for mild to moderate cases.
Replacement Therapy: Infusion of concentrated von Willebrand factor and factor VIII for severe cases or when desmopressin is ineffective.
Antifibrinolytic Medicines: Drugs such as tranexamic acid or aminocaproic acid, which help prevent the breakdown of blood clots.
Contraceptives: Hormonal contraceptives to reduce heavy menstrual bleeding in women.
Topical Treatments: Application of fibrin sealants directly to a bleeding site during surgery or dental procedures.
Regular Monitoring: Ongoing evaluation and management by a hematologist to adjust treatment as needed and to monitor for complications.