Do you or your child take a long time to stop bleeding even from a minor cut? Or do you just have blue spots (bruises) all over your body? Sometimes these seem normal, but sometimes they can be something to be concerned about. That's the condition we're going to talk about today, called Glanzmann Thrombasthenia (GT). Don't worry, we'll keep everything simple.
What is Glanzmann Thrombasthenia (GT)?
Simply put, Glanzmann Thrombasthenia (GT) is a long-term (i.e. lifelong) condition that causes you to bruise easily and has difficulty stopping bleeding. The main cause is a problem with the platelets in our blood, the small cells that help blood clot.
Imagine, if you have GT, because of a genetic mutation in your body, these platelets do not produce a key protein that is needed for blood clotting. Because of this, blood clotting occurs very slowly. The result is that you bleed a lot. The amount of this bleeding can vary from person to person. For some people, this may be minor bleeding that can be managed at home. For others , it may be severe enough to require emergency treatment .
How common is Glanzmann Thrombasthenia (GT)?
Glanzmann Thrombasthenia (GT) is actually a very rare condition. According to medical experts, only one in a million people worldwide are born with this condition.
However, in some communities where this genetic variation is passed down from generation to generation, this number is slightly higher. That is, in such communities, about one in every two hundred thousand people can see this condition. It is reported that the number of babies born with this GT condition is particularly high in some countries in the Middle East, in the provinces of Newfoundland and Labrador in Canada, and among the Romani community in France.
What are the symptoms of Glanzmann Thrombasthenia (GT)?
If you have GT, you may bleed more than someone else would if they had the same injury. Or you may start bleeding unexpectedly and for no apparent reason.
The main symptoms of Glanzmann Thrombasthenia (GT) are:
- Bruising very easily: Even a small bump can cause a large bruise.
- Bleeding gums: Your gums can bleed easily when you brush your teeth.
- Frequent nosebleeds (epistaxis): Some people may have nosebleeds several times a week, even just standing.
- Purple spots or patches on the skin (purpura): These are different from normal bruises and can be larger spots.
- Small purple, brown, or red dots on the skin (petechiae): These are small dots that look like they were pricked by a pin.
- Menorrhagia: Excessive bleeding during menstruation in women: Bleeding that is much heavier than normal.
In GT, internal bleeding is much less common than bleeding from a skin wound (such as a cut) or mucous membranes (such as the inside of the nose or mouth).
Why does Glanzmann Thrombasthenia (GT) occur? What are the causes?
Babies born with Glanzmann Thrombasthenia (GT) inherit a defect, or mutation , in the gene that makes a protein called integrin alpha IIb/beta 3, which helps blood platelets clot. To develop GT, a child must inherit the defective gene from both their mother and father. This is called autosomal recessive inheritance .
Often, parents don't know they are carriers of this defective gene. This is because two defective genes are needed to show symptoms. A carrier is someone who has one normal gene and one defective gene.
If both parents are carriers, they have a 25% chance of having a child with GT.
Later onset Glanzmann Thrombasthenia (GT)
Some people can develop GT later in life. This is extremely rare. Even though it can happen, medical experts still classify Glanzmann Thrombasthenia (GT) as a congenital bleeding disorder .
This is how GT develops later on, when your body makes antibodies against the aforementioned integrin alpha IIb/beta 3 protein. Some diseases, even some medications, can cause this. But the result is the same. Because there isn't enough of the active protein, it takes longer for your platelets to clot.
What are the possible complications of Glanzmann Thrombasthenia (GT)?
Women can develop iron-deficiency anemia due to heavy menstrual bleeding. In severe cases, GT can cause severe, life-threatening bleeding (hemorrhaging). This risk is especially high during periods of heavy bleeding, such as childbirth or surgery.
But don't worry, if you are diagnosed with GT, your doctor can take the necessary steps to prevent these complications.
How do you know for sure if you have Glanzmann Thrombasthenia (GT)? (Diagnosis)
Doctors use various tests to diagnose GT. It is often diagnosed in childhood. As a parent, if your child bruises easily, has frequent nosebleeds, or takes a long time to stop bleeding, you may want to take your child to a doctor. Sometimes, at important times in a child's life, for example:
- When circumcising a child.
- When the first baby tooth falls out.
- If it is a girl, it is when she reaches her first period (menarche).
At this time, you may notice excessive or persistent bleeding. More than 80% of people with Glanzmann Thrombasthenia (GT) are diagnosed before the age of 14, and many are diagnosed before the age of 5. People who are diagnosed with GT as adults may not know they have it until they have a serious injury or accident.
What tests are being done for this?
Doctors use blood tests to diagnose Glanzmann Thrombasthenia (GT). These tests can show problems with:
- Your platelets: A complete blood count (CBC) test can check if your platelet count is normal. A peripheral blood smear can also check if they look abnormal.
- How well your blood clots: Several tests, such as the Prothrombin Time (PT) test and the Partial Thromboplastin Time (PTT) test, can measure how quickly and efficiently your blood clots. These can also help rule out more common bleeding disorders that have similar symptoms to GT (e.g., von Willebrand disease, Bernard-Soulier syndrome).
- Integrin alpha IIb/beta3: Tests such as flow cytometry and monoclonal antibody panels can tell if you have a deficiency or a defect in this protein. They can also detect whether you have antibodies that attack this protein.
- Your genes: Genetic tests can confirm whether you have the genetic mutations (genes called `ITGA2B` and `ITGB3`) that cause GT.
What are the treatments for Glanzmann Thrombasthenia (GT)?
If you are diagnosed with GT, your doctor will advise you on how to reduce your risk of bleeding. You will likely need to work with a hematologist . Aside from things you can do to prevent bleeding, treatment will depend on the severity of your bleeding.
For minor to moderate bleeding
The treatments for such cases are:
- Compression: Your doctor will teach you how to apply pressure to reduce bleeding from a wound and stop minor nosebleeds. For severe nosebleeds, your doctor may put something like gauze or foam inside your nose to stop the bleeding (nasal packing).
- Medications: You may need medications such as fibrin sealant (something like blood glue), gelatin foam, topical thrombin, and antifibrinolytic agents to help blood clot.
For severe bleeding
Severe bleeding caused by Glanzmann Thrombasthenia (GT) requires emergency treatment . Treatments include:
- Platelet transfusions: You may need to have platelets given to stop severe bleeding, or to prevent blood loss before major surgery or childbirth. This involves giving you platelets from a healthy donor.
- Red blood cell transfusion: If you have already lost a lot of blood, you can also be given red blood cells to replenish that amount.
- Recombinant coagulation factor VIIa (rFVIIa): This medicine may be needed if you are not suitable for platelet transfusions.
- Hematopoietic stem cell transplant: Stem cell transplant is the only potentially curative treatment for GT. This may be an option for severe cases of GT that cannot be controlled by other methods. In this, stem cells from a donor are injected into your body.
Are there any complications in the treatment?
Yes, indeed. Between 20% and 30% of people who receive platelets develop antibodies against them over time. This means that the new platelets they receive will not work. If that happens, you will have to go to another treatment, such as the rFVIIa injection. But that medicine also has some risks. For example, it can cause your blood to clot too much.
Although stem cell transplants can cure Glanzmann Thrombasthenia (GT), finding a match for your body can be a challenge. In stem cell transplants for GT, the donors are often siblings. Even if a match is found, there is a risk that your body will reject the donor cells. This condition is called Graft versus Host Disease (GvHD) .
When your doctor talks to you about treatment options, he or she will explain the risks and benefits up front.
What kind of future can someone with GT expect?
No two people with Glanzmann Thrombasthenia (GT), even if they are from the same family and have the same genetic mutation, experience the disease differently. How much bleeding you have and what you need to do to manage your condition will depend on your specific condition.
The good news is that, with proper management, most people with Glanzmann Thrombasthenia (GT) live normal lives with a normal lifespan. In some cases, the amount of bleeding may even decrease as they age.
How can I live well with GT? (How to take care of myself)
If you have GT, work with your doctor to reduce your risk of bleeding and severe anemia. You should do these things:
- Know exactly what medications you should not take. Definitely stay away from blood thinners (like aspirin and other NSAIDs) and any other medications your doctor tells you not to take.
- Take good care of your oral health. Brushing and flossing your teeth daily, and seeing your dentist regularly can help reduce the risk of bleeding gums.
- Take good care of your nose too. Keeping the inside of your nose moist can help reduce the risk of nosebleeds. You can use a humidifier, use a nasal spray, or apply a little Vaseline inside your nose to prevent it from drying out.
- Manage heavy menstrual bleeding. Using hormonal birth control can help prevent heavy periods. Talk to your gynecologist about this.
- Wear a medic alert bracelet. Always carry an ID card with you so that you can identify yourself as having a bleeding disorder in an emergency. It could save your life.
- Have a plan for what to do if you have a bleeding episode. Know when to treat it at home and when to see a doctor right away. Know who to talk to and where to go. That way, it won't be too late to get treatment.
When should I see a doctor?
If you or your child is showing signs of bleeding easily, see a doctor. Bruising and nosebleeds are common. But if these symptoms occur frequently, or if the bleeding takes a long time to stop – definitely see a doctor.
When should you go to the Emergency Treatment Unit (ETU) ?
If you have bleeding that you can't stop, including heavy menstrual bleeding, go straight to the emergency department (ETU) without making an appointment to see a doctor. Signs to watch out for include:
- A nosebleed that doesn't stop for an hour.
- Heavy menstrual flow lasting two hours or more, wetting two tampons or two pads per hour or more.
Important questions to ask your doctor
Don't forget to ask questions like these:
- What tests should be done to diagnose my condition?
- What kind of treatment do I need?
- What lifestyle changes can I make to manage my condition?
- What is the chance that my child will inherit this GT condition?
- Do you recommend genetic testing if I'm thinking about getting pregnant?
Are platelet counts normal in people with GT?
In Glanzmann Thrombasthenia (GT) , the platelet count is usually normal. The problem is not with the number of platelets. Instead, there is a problem with the protein that helps platelets stick together, which prevents the platelets from clotting effectively.
What is the difference between Glanzmann Thrombasthenia (GT) and Bernard-Soulier syndrome (BSS)?
Glanzmann Thrombasthenia (GT) and Bernard-Soulier syndrome (BSS) are both rare genetic conditions that affect the way your blood clots. But they are caused by different gene mutations. The specific problems with your blood platelets are also different. People with BSS may have both low platelet counts and abnormally large platelets.
The most important things to remember from what we have discussed (Take-Home Message)
Glanzmann Thrombasthenia (GT) is a lifelong condition that you and your hematologist need to monitor closely. With GT, there is no way to predict how severe (or minor) your bleeding will be. However, taking steps to minimize your bleeding can help keep you healthy. If your GT is severe, treatments such as platelet transfusions may also help.
While you can't control being born with this condition, remember that you have options to manage it in a way that doesn't interfere with your quality of life. Don't be afraid to seek medical advice and take care of yourself. Then you can definitely live well with this condition.
` Glanzmann thrombasthenia, GT, bleeding, blood platelets, genetic diseases, bruising, bleeding disorder, platelets
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