Von Willebrand's disease

Von Willebrand's disease

Von Willebrand's disease is a hereditary disease that makes it difficult for the blood to clot. Apart from hereditary factors, this condition can also occur due to cancer or autoimmune diseases.

Von Willebrand factor is a protein that plays a role in the blood clotting process. In people with von Willebrand's disease, these proteins have little or no work normally.

Von Willebrand's disease is an incurable condition. However, if handled properly, sufferers can live a normal life.

Causes of von Willebrand's disease

von Willebrand disease is caused by a mutation in the VWF gene, which is the gene that produces von Willebrand factor. Mutations in these genes can reduce production or cause interference with the function of von Willebrand factor.

This condition causes platelets to not stick together. As a result, blood clots do not form and bleeding becomes uncontrollable.

VWF gene mutations are usually passed from parents to children. Generally, it only takes one mutated gene to cause a person to develop von Willebrand disease. If the gene disorder is inherited from both parents, then the condition experienced can be quite severe.

VWF gene mutations can also occur by themselves when someone is an adult, even if they don't have parents with a history of the same disease. In this case, the gene mutation may be triggered by another disease or condition, such as:

  • Heart disease
  • hypothyroid
  • Lupus
  • Myeloproliferative disease

These diseases cause the formation of antibodies to von Willebrand factor. Even so, von Willebrand disease due to the conditions above can be cured if the cause is treated.

Symptoms of von Willebrand's disease

Symptoms of von Willebrand's disease can be mild or even not appear at all so that the sufferer is not aware of it. The severity of this disease also differs in each patient.

The following are symptoms that can occur in people with von Willebrand's disease:

  • Heavy bleeding after tooth extraction or surgery
  • Bleeding in mucous membranes, such as the gums, nose, or stomach
  • Nosebleeds that don't stop within 10 minutes
  • Heavy bleeding during labour
  • There is blood in the urine or stool
  • Skin bruises easily

Symptoms of von Willebrand disease will be more easily seen in women, especially during menstruation. These symptoms include:

  • Menstruation lasts a long time, or blood comes out very much
  • Blood clot discharge from the vagina
  • Changing pads or tampons more than once in an hour
  • Symptoms of anemia appear, such as fatigue, weakness, or shortness of breath

When to see a doctor

Immediately see a doctor if you experience bleeding in the long term, difficult to stop, or if accompanied by pain, swelling, large hematoma , and anemia . The doctor will carry out an examination, especially if the patient has a family history of von Willebrand's disease.

In women who suffer from von Willebrand's disease, consult a doctor if you are planning a pregnancy. The doctor will provide preventive ways to reduce the risk of complications.

Diagnosis of von Willebrand's disease

The doctor will ask about the patient's and family's medical history, as well as examine the bleeding, such as bruising. Next, the doctor will do some blood tests, such as:

  • Von Willebrand factor antigen , to determine the levels of von Willebrand factor in the blood, by measuring the levels of a number of proteins in the blood
  • Von Willebrand factor activity , to measure how well the von Willebrand factor performs in the blood clotting process
  • Factor VIII clotting activity , to measure the levels and function of factor VIII protein, which is one of the factors for blood clotting
  • Von Willebrand factor multimers , to determine the type of von Willebrand disease suffered

Please note that test results may vary. This is because the results can be influenced by various factors, such as infection, stress, exercise habits, pregnancy, and consumption of drugs. Therefore, the patient may be advised to undergo several blood tests.

If the patient is diagnosed with von Willebrand's disease, the doctor will suggest examining the patient's family members. The goal is to find out if the disease runs in families.

Treatment of von Willebrand's disease

Although von Willebrand's disease can't be cured, treatment can help prevent and stop bleeding. The treatment method chosen depends on the patient's condition, the type and severity of the disease, and the patient's response to previous treatment methods.

Some types of treatment for Von Willebrand's Disease are:

1. Antifibrinolytic drugs

Antifibrinolytic drugs, such as tranexamic acid , are used to slow the breakdown of blood clots that have formed so that bleeding can stop.

2. Birth control pills

In female patients, birth control pills can be used to control heavy bleeding during menstruation. The content of the hormone estrogen in birth control pills can also encourage the production of von Willebrand factor.

3. Desmopressin

Desmopressin is a synthetic hormone that works to stimulate the body to release more von Willebrand factor stored in blood vessel walls.

4. Replacement therapy

This therapy is carried out by injecting blood clotting factors, namely von Willebrand factor and factor VIII, into the body through an infusion. This therapy is only recommended if the condition cannot be treated with desmopressin .

5. Fibrin glue

Fibrin glue is a drug to help stop bleeding. This drug resembles an injection that is used by applying it directly to the wound.

Complications of von Willebrand's disease

If not handled properly, people with Von Willebrand's disease can experience complications in the form of:

  • Pain and swelling
    This condition occurs when abnormal bleeding occurs in the soft tissues or joints.
  • Anemia
    Excessive bleeding during menstruation can cause iron deficiency anemia .

Von Willebrand's disease can cause uncontrolled bleeding that can lead to death. Therefore, medical treatment must be given immediately if there is severe bleeding.

Prevention of von Willebrand's disease

Von Willebrand disease is generally inherited from parents, so it is difficult to prevent. The best prevention effort that can be done is to do premarital counseling and gene examination, especially if there is a family history of this disease.

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