From the Guidelines
Von Willebrand disease is a common inherited bleeding disorder that should be managed with desmopressin (DDAVP) as the first-line treatment, with VWF replacement therapy and antifibrinolytic medications considered for more severe cases or when DDAVP is ineffective, as recommended by the 2008 NHLBI/NIH guidelines 1.
Diagnosis and Classification
The disease has three main types: Type 1 (mild deficiency), Type 2 (dysfunctional VWF), and Type 3 (severe deficiency), which can be diagnosed based on laboratory values such as VWF:Rco, VWF:Ag, and FVIII activity 1.
- Type 1 VWD accounts for ~75% of symptomatic persons, and is characterized by a partial quantitative deficiency of VWF.
- Type 2 VWD is characterized by a qualitative deficiency of VWF, with four subtypes: 2A, 2B, 2M, and 2N.
- Type 3 VWD is a rare and severe form of the disease, characterized by a virtually complete quantitative deficiency of VWF.
Treatment
Treatment depends on the type and severity of the disease, but typically includes:
- Desmopressin (DDAVP), which can be administered as a nasal spray (Stimate) at 150-300 mcg or intravenously at 0.3 mcg/kg.
- VWF replacement therapy, such as Humate-P, Alphanate, or Wilate, for more severe cases or when DDAVP is ineffective.
- Antifibrinolytic medications, such as tranexamic acid (1000-1500 mg three times daily) or aminocaproic acid, to help stabilize clots.
- Topical agents, such as fibrin glue, for minor bleeding.
- Hormonal contraceptives for women with heavy menstrual bleeding.
Management
Patients with von Willebrand disease should avoid aspirin and NSAIDs, which can worsen bleeding tendencies, and genetic counseling is recommended for affected individuals and their families since the condition is hereditary 1.
From the Research
Overview of von Willebrand Disease
- von Willebrand disease is the most common inherited bleeding disorder, with type 1 being the most prevalent, accounting for approximately 70 to 80 per cent of all cases 2.
- The disease is characterized by a dual defect of haemostasis, including abnormal platelet adhesion and coagulation due to reduced or dysfunctional von Willebrand factor (VWF) and low levels of factor VIII (FVIII) 3.
Treatment Options
- Desmopressin is the treatment of choice for most patients with type 1 von Willebrand disease, as it can induce release of normal VWF from cellular compartments, correcting both the intrinsic coagulation and primary hemostasis defects 2, 3.
- Desmopressin is not effective in type 3 and some cases of type 2 von Willebrand disease, where plasma concentrates containing VWF and FVIII are preferred 2, 4.
- The relationship between desmopressin concentration and VWF activity has been quantified, with a significant increase in VWF activity observed after desmopressin administration 5.
Management of Severe von Willebrand Disease
- The management of severe von Willebrand disease can be challenging, particularly in patients with type 2 and type 3 disease 4.
- Emerging treatments are being developed for the management of severe von Willebrand disease, including the use of recombinant VWF and other therapies 4.
- Desmopressin has been used for nontransfusional treatment of mild and moderate hemophilia and von Willebrand disease, and can shorten the prolonged skin bleeding time in patients with von Willebrand disease 6.