Definition and Overview

The Von Willebrand disease is a medical condition characterized by heavy, uncontrollable bleeding that takes longer than normal to stop when the patient suffers a cut or any injury. This is due to the blood’s inability to clot, an abnormality resulting from a deficiency in a type of protein known as the von Willebrand factor or VWF. It is typically an inherited disease, although it also develops later on in life in some rare cases.

Fortunately, there are available treatment methods, most of which involve medications that encourage blood clots and prevent excessive bleeding. With the right treatment and disease management plan, people suffering from this blood-related disorder can live normally.

Causes of Condition

The main cause of the Von Willebrand disease is a deficiency or any irregularity affecting the von Willebrand factor or VWF, which is a type of protein that is responsible for keeping blood platelets clumped together, thus ensuring proper blood clotting. In the absence or deficiency of this protein, the blood cannot clot properly or may take longer than normal to do so. Thus, people who are affected by the disease experience heavier and prolonged bleeding episodes every time they suffer an injury.

The specific irregularity affecting the VWF protein determines the specific type of disease a person has. There are three distinct types, namely:

  • Type 1 – This is the most common type of this disease and is characterized by abnormally small amounts of VWF in the patient’s body. The effects of this type are very minimal, and bleeding episodes are generally milder and are closer to normal levels; thus, many people suffering from this disease may not even recognize the symptoms. This disease is only usually detected through laboratory tests that check the VWF and plasma levels.

  • Type 2 – This type is less common and occurs when the VWF levels are normal, but the structure of the protein itself is defective. This type comes in different severity levels, identified as 2A, 2B, 2M, and 2N, depending on the specific problem in the VWF’s structure.

  • Type 3 – This is a more severe and serious type of the disease. It occurs when a person has no VWF in the body, rendering blood platelets totally unable to clot. Due to its severe effects, this type is very easy to diagnose but is harder to manage long-term.

Problems affecting the VWF’s level and structure are linked to genetic mutations or abnormality in the patient’s DNA. Thus, it is considered as an inherited disorder. It is believed that Type 3 Von Willebrand disease occurs when the patient inherits a gene mutation from both parents, instead of just one, whereas gene mutations inherited from only one parent typically leads to either Type 1 or Type 2 of the disease.

There are, however, some rare cases wherein the disease develops later on in life, even without an inherited gene mutation. This is considered as an acquired form of the disease, which is linked to an autoimmune or a thyroid problem. It may also be a side effect of certain medications.

Key Symptoms

The main symptoms of Von Willebrand disease include:

  • Easy bruising
  • Lumps under the skin
  • Prolonged bleeding
  • Heavy bleeding after an injury or a dental procedure
  • Heavy and uncontrollable nose bleeds
  • Bloody stools
  • Blood in urine

The disease is sometimes difficult to diagnose in female patients because most women consider heavy or prolonged menstrual bleeding as a normal part of their cycle. However, women are advised to check for certain symptoms during their menstrual period that may indicate a bleeding disorder. These include:

  • Abnormally heavy menstrual bleeding
  • Blood clots that are at least 1 inch in diameter in menstrual flow
  • Soaking a menstrual pad in an hour or less
  • Symptoms of anemia such as fatigue, shortness of breath, and unexplained tiredness

Patients suffering from Types 1, 2, and 3 of the disease are likely to experience all the above symptoms, with some difference in severity. However, Type 3 patients are also at risk of other possible complications, such as:

  • Internal bleeding
  • Bleeding in the joints
  • Gastrointestinal bleeding

Due to excessive and prolonged bleeding, patients suffering from this disease also have a higher risk of developing joint or tissue pain as well as iron deficiency anemia. There is also a small risk of death in severe cases if bleeding is not controlled in time.

Due to their tendency to bleed easily and inability to clot properly, patients suffering from the disease should avoid non-steroidal anti-inflammatory drugs or NSAIDs, which can increase the risk of bleeding. They should also inform all their health care providers, including dentists, surgeons, and obstetrician-gynecologists about their condition, as it will affect all aspects of their medical care. Some patients also choose to wear a medical ID bracelet stating their condition in order to inform emergency personnel of the disease in case of an accident.

Who to See and Types of Treatments Available

A person suffering from Von Willebrand disease or is suspected of having a blood clot problem should work closely with a hematologist or a hemophilia treatment center. If a patient does not know any hemophilia specialists, he or she may ask his family doctor or general physician for a referral.

The available treatment options for this disorder are the following:

  • Replacement therapy – This involves replacing the missing or deficient VWF using either Humate-P or Alphanate SD/HT, which can be created from plasma. Humate-P is only used for more severe cases, i.e. Types 2 and 3 of the disease. This method may cause side effects such as rashes, swelling, and tightening of the chest.

  • Non-replacement therapy – This is only effective for the milder types of the disease, namely Types 1 and 2A. It involves the use of Desmopressin, also known as DDVAP, which is a medication that stimulates the body’s cells to release more VWF. However, some patients cannot tolerate DDVAP; in such cases, replacement therapy may be used instead.

  • Aminocaproic acid therapy – This is a drug used to help encourage blood clots to form. This is effective in treating Type 1 Von Willebrand disease, but it may cause vomiting and nausea.

  • Tranexamic drug therapy – This treatment method involves a drug called Tranexamic, which also stimulates blood clots like aminocaproic acid.

  • Thrombin-JMI or Tisseel VH – These are topical medications that can be applied to small cuts or surgical wounds to help stop bleeding. However, since they cannot stop heavy bleeding, they can only be used for minor cuts or bleeding that originates from small veins or capillaries.

  • Kessler CM. Hemorrhagic disorders: coagulation factor deficiencies. In: Goldman L, Ausiello D, eds. Goldman's Cecil Medicine. 23rd ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 180.

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