what is it?
A BLEEDING DISORDER
It is an inherited genetic disorder (sometimes acquired) caused by a missing or defective clotting protein called von Willebrand factor. Von Willebrand Factor binds with other components in blood vessel walls (i.e. factor VIII and platelets) to form a plug during the clotting process when bleeding is present.
This causes excessive bleeding and can potentially be life-threatening in any severity type depending on the situation. Symptoms can include: blood in the urine and stools, easy bruising, excessive bleeding during childbirth, heavy or prolonged periods, gum bleeding, nose bleeds, soft tissue & joint swelling and pain. Patients with moderate to severe forms can bleed spontaneously.
The name comes from Doctor Erik Adolf Von Willebrand and the word Disease means it consists of a disorder of a structure or function in the human body. It has previously been referred to as Angiohaemophilia, Vascular Haemophilia, and Pseudohaemophilia.
IS IT THE SAME AS HAEMOPHILIA?
They are both bleeding disorders, but not the same condition!
It was first described in 1926 by Finnish physician Doctor Erik Adolf Von Willebrand investigating a young girl & her family on the Aland Islands presenting bleeding symptoms identifying as a new bleeding disorder similar to that of Hemophilia at the time called ‘Pseudohemophilia’. The young girl died at 13 years old on her fourth period.
It wasn't until 1971 when Dr Inga Nilsson and her medical team isolated vWF from the Hemophilia A (Factor VIII) protein now named Von Willebrand Factor after Doctor Erik Von Willebrand who first described it. vWD is the closest relative bleeding disorder to Haemophilia because this protein carries Factor VIII (absent in Haemophilia A) which is also mildly to severely deficient in most Von Willebrand Disease patients depending on their subtype.
HOW DOES IT IMPACT THE HUMAN POPULATION?
Here's a wake up call.. Unfortunately Von Willebrand Disease is one of the world’s most under diagnosed chronic illnesses and yet the most common inherited bleeding disorder! Estimated by various medical authorities to affect up to 1 to 3 in 100 of the entire human population!
In developed countries the actual diagnosis rates currently sit at a very shockingly low 1 in 20,000 people! It occurs more commonly than other better understood conditions such as Autism, Celiac Disease, Rheumatoid Arthritis and Schizophrenia.... Awareness and education is required to improve the poor diagnosis and access to adequate care rates.
REFERENCES: Third Åland islands conference on von Willebrand disease, 26–28 September 2012: meeting report E. BERNTORP, Erik von Willebrand R. LASSILA and O. LINDBERG*