Willebrand-Jürgens syndrome (synonyms: Angiohemophilia; angiohemophilia A; angiohemophilia B; angiohemophilia syndrome; Bernuth pseudohemophilia; factor VIII deficiency with vascular endothelial dysfunction; factor VIII deficiency with vascular dysfunction; hereditary pseudohemophilia; constitutional thrombopathy; pseudohemophilia; type B pseudohemophilia; vascular hemophilia; Von Bernuth syndrome; von Willebrand-Jürgens syndrome (vWS); von Willebrand disease; von Willebrand syndrome; Willebrand-Jürgens thrombopathy; ICD-10 D68. 0: Willebrand-Jürgens syndrome) refers to the most common congenital blood clotting disorder in humans. It is a defect or deficiency of factor VIII (von Willebrand factor, vWF; carrier protein of blood clotting factor VIII); vWF creates a connection between platelets (thrombocytes) and the injured vessel wall. Thus, Willebrand-Jürgens syndrome is a combined hemorrhagic diathesis (increased bleeding tendency), i.e., a disorder of both plasmatic coagulation and platelet function.
Von Willebrand-Jürgens syndrome may be congenital or acquired.
Deficiency or defects of von Willebrand factor lead to hemorrhagic diathesis (disease states with increased bleeding tendency).
The following forms of Willebrand-Jürgens syndrome can be distinguished:
- Type 1 – quantitative deficiency of Willebrand factor (vWF); clinically, patients show only mild symptoms (e.g., prolonged bleeding or postoperative hemorrhage, extensive hematomas (bruising), and menorrhagia (bleeding is prolonged (>6 days) and increased); 80-90% of cases
- Type 2 (quantitative defects of the vWF; the vWF is sufficiently present in the blood but is not sufficiently functional); 10-20% of cases
- Type 3 – rarest and most severe form; patients have complete failure or severe reduction (< 5%) of vWF; homozygous or compound heterozygous mutations of the VWF gene; < 1% of cases.
The disease is predominantly transmitted autosomal-dominantly with variable penetrance; type 2 C and type 3 are inherited autosomal-recessively.
Sex ratio: males and females are affected approximately equally.
The prevalence (disease incidence) is 1% in asymptomatic cases and 0.1% in symptomatic courses. The incidence ranges from 1:100-200 in the population.
Course and prognosis: Course and prognosis depend on the degree of quantitative von Willebrand factor (vWF) deficiency and on any necessary therapy (desmopressin for mild bleeding; von Willebrand factor concentrate for severe bleeding) and its consistent implementation. Possible complications include bleeding complications with the possible consequence of muscle, joint, bone involvement, which can lead to invalidation.
