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Pseudo-von Willebrand disease

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Disease definition

A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.

ORPHA:52530

Classification level: Disorder

Synonym(s):
  • PT-VWD
  • Pseudo-von Willebrand disease type 2B
  • Platelet type-von Willebrand disease

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant

Age of onset: Adult

ICD-10: D69.8

ICD-11: 3B62.Y

OMIM: 177820

UMLS: C1280798

MeSH: C536458

GARD: 8312

A summary on this disease is available in Français, Español, Deutsch, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2019.pdf) - Orphanet Urgences
Clinical practice guidelines
Français (2022) - PNDS
Genetic testing
Guidance for genetic testing
Français (2017.pdf) - ANPGM
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.