Von Willebrand disease: Difference between revisions

Revision as of 18:32, 4 January 2023

Von Willebrand's disease is one of the most common congenital blood clotting disorders. It affects 1 in 1,000 people (women as often as men). Mostly, however, these are mild diseases without more serious clinical manifestations. It was first described by the Finnish physician Erik von Willebrand in 1924, but it was not until the 1950s that deficiency or malfunction of von Willebrand factor (vWF) was shown to be the cause.

Causes

autosomal dominant inheritance mutation of the gene encoding the amount, functionality and structure of vWF → impaired platelet function, inability to bind plasma factor VIII
the obtained forms were also described

Symptoms

vWF is not among the plasma factors → it is not a coagulopathy
impaired blood clotting – frequent nosebleeds (epistaxis), increased formation of bruises, heavier menstrual bleeding, there may be blood in the urine and stools, in severe forms bleeding into the joints

Basic examination

blood count
APTT
Duke bleeding test
examination of factor VIII
tests performed may not be pathological in milder forms

Classification

Type 1: light quantitative defect – the most common
Type 2: qualitative defect
Type 3: severe qualitative defect – the most severe form

Links

Resources

Wikipedia article on von Willebrand disease

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-{{Infobox - genetic disease
-| name = Von Willebrand disease
-| image = Bleeding finger.jpg
-| label =
-| clinical picture = [[epistaxis]], increased formation of bruises, metromenorrhagia, hematuria, blood in the stool, in severe forms of bleeding into the joints
-| cause = [[autosomal dominant inheritance|autosomal dominant inheritance]] mutation of the gene encoding the quantity, functionality and structure of vWF '''→''' impaired platelet function, inability to bind plasma factor VIII (acquired forms of the disease have also been described)
-| diagnosis = blood count, [[APTT]], bleeding, factor VIII examination
-| SLG = {{SLG|218}}
-| incidence in the world = 1/1&nbsp;000
-| prognosis =
-| ICN = {{ICN|65-69|68.0}}
-| MeSH ID = {{MeSH ID|D014842}}
-| OMIM = {{OMIM|193400}} type 1, {{OMIM|613554}} type 2, {{OMIM|277480}} type 3, {{OMIM|314560}} X-linked form
-| orphanet = {{orphanet|ORPHA903|3497}} inherited form, {{orphanet|ORPHA99147|14164}} acquired form
-| MedlinePlus = {{MedlinePlus|000544}}
-| Medscape = {{Medscape|206996}}
-}}
-__NOTOC__
 Von Willebrand's disease is one of the most common congenital blood clotting disorders. It affects 1 in 1,000 people (women as often as men). Mostly, however, these are mild diseases without more serious clinical manifestations.
 It was first described by the Finnish physician Erik von Willebrand in 1924, but it was not until the 1950s that deficiency or malfunction of [[von Willebrand factor|von Willebrand factor]] (vWF) was shown to be the cause.
+__NOTOC__