Definition
Von Willebrand's disease is a hereditary disease, due to a quantitative, structural or functional abnormality of one of the factors involved in the initial phase of the coagulation process (Willebrand factor, VWF).
In particular, von Willebrand's disease is secondary to a gene mutation on chromosome 12. From this aberration there is an alteration of the primary haemostasis (from which results a prolonged bleeding time) and a reduction of the factor VIII of the circulating coagulation.
Von Willebrand's disease is generally transmitted in an autosomal dominant way (so it is sufficient to inherit an altered copy of the gene from one of the parents to manifest the pathology) and, less often, as a recessive trait (ie it is necessary to inherit two altered copies of the gene from both the parents).
The pathology affects both sexes and can occur in three different clinical forms, based on:
- to the level of Willebrand factor deficiency, which may be
- partial (type 1)
- or total (type 3),
- to the type of defect (type 2 variants).
The age of onset is variable and is earlier in forms with severe VWF deficiency.
Most common symptoms and signs *
- Articolar pains
- Bruising
- haemarthrosis
- Gastrointestinal hemorrhage
- Ease of bleeding and bruising
- Menorrhagia
- Metrorrhagia
- thrombocytopenia
- Nosebleeds
- Blood in the urine
- Bleeding gums
Further indications
Von Willebrand's disease is characterized by haemorrhagic manifestations of primary haemostasis defect, both spontaneous (common recurrent epistaxis and metrorrhagia), and induced by small traumatic lesions or invasive medical interventions (eg tonsillectomy or adenoinectomy). The tendency to bleed is variable; in general, the symptoms observed are less serious than those occurring in hemophilic syndromes.
Frequent manifestations of von Willebrand's disease include gingival bleeding, ecchymoses, superficial hematomas and gastrointestinal haemorrhages.
Contrary to hemophilia, deep and intramuscular subcutaneous hematomas are rare.
The diagnosis is based on the patient's clinical and family history and on the VWF and FVIII dosage, using functional and immunological assays.
Treatment depends on the clinical form.
In the most serious cases, it is possible to intervene with a drug therapy based on desmopressin or Willebrand replacement factor, to stop or prevent bleeding and bleeding.
In the case of minor bleeding problems, specific treatment may not be necessary; to reduce bleeding from superficial traumatic lesions, however, it may be necessary to apply a certain pressure (eg nasal tamponade of the epistaxis).
