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Acquired Von Willebrand syndrome

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Other Names: Willebrand disease, acquired; Acquired Von Willebrand disease

Acquired von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF gene mutation. It is most often seen in persons over age 40 years with no prior bleeding history.

Cause

This condition may result from lymphoproliferative disorders, autoimmune disorders (including systemic lupus erythrematosus, scleroderma, and antiphospholipid antibody syndrome), heart conditions such as aortic valvular stenosis, increased blood platelet count such as essential thrombocythemia, and certain drugs.

Epidemiology

About 300 cases of this condition have been reported in the medical literature thus far.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed

30%-79% of people have these symptoms

5%-29% of people have these symptoms

  • Aortic regurgitation
  • Aortic valve stenosis(Narrowing of aortic valve)
  • Asthenia
  • Bruising susceptibility(Bruise easily)
  • Epistaxis(Bloody nose)
  • Gastrointestinal angiodysplasia
  • Hematuria(Blood in urine)
  • Hypochromic anemia
  • Hypotension(Low blood pressure)
  • Joint hemorrhage(Bleeding within a joint)
  • Melena
  • Menorrhagia(Abnormally heavy bleeding during menstruation)
  • Metrorrhagia(Abnormal uterus bleeding)
  • Mitral regurgitation
  • Normocytic anemia
  • Persistent bleeding after trauma(Excessive bleeding after minor trauma)
  • Pulmonic stenosis(Narrowing of pulmonic valve)
  • Refractory anemia

1%-4% of people have these symptoms

  • Intracranial hemorrhage(Bleeding within the skull)

Diagnosis

The diagnosis of AVWS are complicated by the need for multiple laboratory tests and the management of bleeding risk in a typically elderly population with serious underlying conditions that predispose towards thrombosis. Recently developed diagnostic algorithms, based on standard laboratory assays, may assist clinicians with the diagnostic workup and help differentiate between AVWS and von Willebrand disease (VWD) types 1 and 2. AVWS should be considered in all patients with new-onset bleeding whenever laboratory findings suggest VWD, particularly in the presence of an AVWS-associated disorder.

AVWS testing is also recommended prior to surgery or an intervention with a high risk of bleeding in any individual with an AVWS-associated disorder. 

Treatment

Treatment of the underlying condition using immunosuppressants, surgery, or chemotherapy, can lead to remission of AVWS in some individuals and should always be considered. Strategies to prevent and/or treat bleeding episodes should also be in place, including the use of VWF-containing factor VIII concentrates, desmopressin and tranexamic acid. Treatment success will depend largely on the underlying pathogenesis of the disorder.

NIH genetic and rare disease info

Acquired Von Willebrand syndrome is a rare disease.


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Latest research (Pubmed)

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