Glanzmann's Disease: Causes, Symptoms & Diagnosis

Glanzmann's Disease

What Is Glanzmann’s Disease?

Glanzmann’s disease—also called Glanzmann’s thrombasthenia—is a rare condition in which a person’s blood does not clot properly. It is a congenital hemorrhagic disorder, meaning that it is a bleeding disorder present at birth.

This condition results from the lack of a protein called Glycoprotein IIb/IIIa, which is usually found on the surface of blood platelets. Platelets are small blood cells that are the first responders in the case of a cut or other bleeding injury. Platelets normally clump together to form a plug in the wound and stop bleeding.

Without enough glycoprotein IIb/IIIa, your platelets will not be able to stick together (clot) properly. Because the platelets are unable to clump together, people who have Glanzmann’s disease have difficulty getting their blood to clot. Glanzmann’s disease can be a serious issue during surgeries or in the case of major injuries because you could lose large quantities of blood.

What Causes Glanzmann’s Disease?

The genes for glycoprotein IIB/IIIA are carried on chromosome 17 of your DNA. Then there are defects in these genes, it can lead to Glanzmann’s.

The condition is autosomal recessive, meaning that both of your parents must carry the defective gene or genes for Glanzmann’s in order for you to inherit the disease. Doctors and scientists are researching what exactly causes Glanzmann’s disease and how it can best be treated. If you have a family history of Glanzmann’s disease or related disorders, you have an increased risk of inheriting the disorder or passing it on to your children.

What Are the Symptoms of Glanzmann’s Disease?

Glanzmann’s disease may cause severe or continual bleeding, even from a minor injury. People who have the disease may also experience:

  • frequent nosebleeds
  • bruising easily
  • bleeding gums
  • heavy menstrual bleeding
  • bleeding during or after surgery

Diagnosing Glanzmann’s Disease

Your doctor may use the following simple blood tests to help diagnose Glanzmann’s disease:

  • platelet aggregation tests (to see how well your platelets clot)
  • complete blood count (to determine the number of blood platelets you have)
  • prothrombin time (to determine how long it takes for your blood to clot)
  • partial thromboplastin time (another test to determine how long it takes for your blood to clot)

Your doctor may also test some of your close relatives to determine if they have Glanzmann’s disease or any of the genes that may contribute to the disorder.

Treating Glanzmann’s Disease

There are no specific treatments for Glanzmann’s disease. Doctors may suggest blood transfusions (injections of donor blood) for patients who have severe bleeding episodes. By replacing defective platelets with normal platelets, people with Glanzmann’s disease should have a reduction in bleeding and bruising.

You should avoid medications such as ibuprofen, aspirin, blood thinners (warfarin, etc.), and anti-inflammatory drugs. These drugs are known to prevent platelets from clotting and can cause further bleeding.

If you are receiving treatment for Glanzmann’s disease and notice that your bleeding is not stopping or is worsening, you should talk with your doctor.

What Can I Expect If I Have Glanzmann’s Disease?

Glanzmann’s disease is a long-term disorder with no cure. The dangers of continual bleeding are numerous and include chronic anemia, neurological or psychiatric problems, and possibly death, if enough blood is lost. Because of these dangers, people with Glanzmann’s have to be very careful when bleeding occurs. Women who have the condition may develop iron deficiency anemia during their menstrual cycles.

Most people who have Glanzmann’s disease respond well to treatment. However, if you begin to bruise easily or bleed for unknown reasons, you should talk with your doctor. This may indicate that the disease is becoming worse or that there is another underlying condition that needs to be diagnosed by your doctor.

Can Glanzmann’s Disease Be Prevented?

A blood test can help detect the genes responsible for causing Glanzmann’s disease. If you have a family history of any platelet disorders, it may be helpful to seek genetic counseling if you are planning to have children. Genetic counseling can help you determine the potential risk of your child inheriting Glanzmann’s disease.

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