Von Willebrand disease type 1

Von Willebrand disease type 1 (VWD type 1) is the most common and generally mildest form of Von Willebrand disease, a hereditary bleeding disorder caused by a partial quantitative deficiency of von Willebrand factor (VWF). VWF is a glycoprotein essential for platelet adhesion to injured blood vessel walls and for stabilizing coagulation factor VIII in the bloodstream. In type 1 VWD, VWF levels are reduced to approximately 15–50% of normal, though the protein that is produced functions normally. The condition is caused by pathogenic variants in the VWF gene located on chromosome 12. The hallmark symptoms involve mucocutaneous bleeding, which primarily affects the skin, nasal passages, oral cavity, gastrointestinal tract, and genitourinary system. Common clinical features include easy bruising, frequent or prolonged nosebleeds (epistaxis), prolonged bleeding from cuts or after dental procedures or surgery, and heavy or prolonged menstrual bleeding (menorrhagia) in women. Menorrhagia is often the presenting symptom in affected females and can significantly impact quality of life. Joint and muscle bleeding, which is characteristic of hemophilia, is uncommon in type 1 VWD. Symptom severity can vary considerably, even among members of the same family, and bleeding episodes may become more apparent during surgical procedures, trauma, or dental extractions. Treatment for VWD type 1 is generally effective and is tailored to the severity of bleeding and the clinical situation. Desmopressin (DDAVP) is the first-line treatment for most patients; it stimulates the release of stored VWF from endothelial cells, temporarily raising VWF and factor VIII levels. A trial of desmopressin is typically performed to confirm an adequate response before it is relied upon for surgical coverage. For patients who do not respond adequately to desmopressin, or for major surgical procedures, VWF-containing plasma-derived factor concentrates may be used. Antifibrinolytic agents such as tranexamic acid or aminocaproic acid are frequently used as adjunctive therapy, particularly for mucosal bleeding and menorrhagia. Hormonal therapies, including combined oral contraceptives, may also help manage menorrhagia in affected women. With appropriate management, most individuals with type 1 VWD have an excellent prognosis and a normal life expectancy.

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