Have you ever noticed that some people bleed profusely even from a small scratch or a simple bruise, or that bruises easily and take a long time to heal? Sometimes this could be due to a condition that we haven't heard much about, but is very important to know about. One such condition is Bernard-Soulier Syndrome, or ``(BSS)`` for short. Let's talk about this in a little more detail today.
What is Bernard-Soulier Syndrome (BSS)?
Simply put, Bernard-Soulier Syndrome `(BSS)` is a very rare condition. What happens in this is that the process of blood clotting in our body, which means that the bleeding stops when we get injured, is disrupted. Imagine, you have a small wound on your hand. After a while, the bleeding stops, right? Well, what helps with that is platelets, a type of small cell in our blood, and plasma, which is the liquid part of the blood.
A person with Bernard-Soulier Syndrome (BSS) has fewer platelets than normal. Doctors call this condition thrombocytopenia. Also, the platelets that are present are larger than normal platelets. So, for these reasons, people with BSS bleed and bruise easily.
How rare is this condition?
This is actually a very, very rare condition. According to medical experts, this condition affects only one in a million people worldwide. This means that even in Sri Lanka, there are very few people suffering from this disease.
What are the symptoms of Bernard-Soulier Syndrome (BSS)?
Often, babies with BSS start showing these symptoms early in life. Check to see if you or someone you know has any of these:
- You bruise easily, and it takes a long time to heal: Even a simple bump on a chair can leave a big bruise. It can take weeks for that bruise to heal.
- Bleeding profusely even from minor cuts and wounds: Whether you get a small cut while shaving or cut your hand with a knife while chopping vegetables, it's difficult to stop the bleeding.
- Frequent nosebleeds: Some people call this `(epistaxis)`. If you have frequent nosebleeds for no reason, that is also a symptom.
- Bleeding under the skin: These appear as small red or purple dots on the surface of the skin. Doctors call these ``petechiae''.
- Heavy bleeding during menstruation in women: If bleeding lasts for several days longer than usual, or if it is heavy (menorrhagia), that is also a matter of concern.
Don't be afraid of having one or two of these symptoms, but if they persist, it's best to seek medical advice.
What causes Bernard-Soulier Syndrome (BSS)?
This is the most important point. ``(BSS)`` is a genetic disorder . That is, a condition that occurs when we are born due to a change (mutation) in our genes. It is hereditary , meaning that children can inherit this genetic change from parents.
This condition (BSS) is caused by mutations in the genes `GP1BA`, `GP1BB` or `GP9` in particular. All of these genes are very important for the blood clotting process in our body. So when there is a problem with these genes, blood clotting does not occur properly.
How do you know if you have Bernard-Soulier Syndrome (BSS)?
If you have these symptoms, the first thing a doctor will do when you see them is to ask you a detailed question. Then, they will order several blood tests to confirm the condition.
- Platelet count test: This checks the number of platelets in your blood and whether they are low.
- Gene mutation tests: This can detect whether there are mutations in the previously mentioned `GP1BA`, `GP1BB`, `GP9` genes that cause `(BSS)`.
- Microscopic examination of platelets: A sample of your blood is taken and examined under a microscope to see if the platelets are abnormally large.
- Platelet flow cytometry: Although it has a complicated name, this test measures the amount of glycoproteins called `GP1BA`, `GP1BB`, `GP9` on the surface of platelets. If these are low, it is a sign of `(BSS)`.
It is based on the results of these tests that the doctor will tell you exactly whether you have BSS or not.
What are the treatments for Bernard-Soulier Syndrome (BSS)?
There is currently no cure for BSS, as it is a genetic condition. However, there are many things you can do to prevent excessive bleeding and minimize other complications that may arise. Treatment is mainly focused on that.
Things you can do to minimize bleeding:
These are simple, yet very important things you can add to your daily life.
- Avoid medications that increase the risk of bleeding: Some painkillers, such as nonsteroidal anti-inflammatory drugs (NSAIDs), aspirin, and some antihistamines can increase the risk of bleeding. Therefore, do not take these medications without consulting a doctor.
- Use a soft-bristled toothbrush when brushing your teeth: This can reduce bleeding gums.
- Learn the correct way to stop a nosebleed: ask your doctor about how to hold your nose and how to hold your head.
- Limit certain foods and drinks: Foods high in alcohol and refined sugars can affect your platelet count, so it's best to limit them as much as possible.
- Register at a center that offers 24-hour emergency care: This will help you get treatment quickly in an emergency, such as a major hemorrhage.
- Take iron supplements if you have iron deficiency: Frequent bleeding can lead to iron deficiency. Take iron tablets as directed by your doctor.
- Wear a medical identification bracelet or tag: It is very important in an emergency to wear a bracelet or tag that clearly states that you have `(BSS)`.
Medical treatment:
In some cases, especially in cases of sudden bleeding or when preparing for surgery, doctors may provide treatment such as:
- Platelet transfusions: This is usually the first treatment for a bleeding emergency. Platelets from a donor are given into your body through an IV line. These platelets help your blood clot.
- Antifibrinolytic therapy: These are medications that help blood clot. For example, tranexamic acid, which you may have heard of, is also available under the brand name ``Cyklokapron®''. This helps control bleeding.
Can Bernard-Soulier Syndrome (BSS) be prevented?
Unfortunately, there is no way to prevent BSS from developing because it is a genetic condition.
However, if someone in your family has BSS, or if you think you may have this gene mutation, you may want to consider genetic testing . It is also important to seek genetic counseling . A genetic counselor can tell you more about the condition and explain the risk of passing it on to your children.
What are some things to be aware of when living with Bernard-Soulier Syndrome (BSS)?
Most people with BSS can live a normal life. However, they need to be a little more careful to reduce the risk of injury.
For example, it's best to stay away from contact sports, as they carry a higher risk of injury and major bleeding.
It's also important to see your primary care provider regularly to maintain your overall health. If you have surgery, it may be necessary to schedule it in advance and possibly have a platelet transfusion before the procedure.
If you have Bernard-Soulier Syndrome (BSS), what questions should you ask your doctor?
If you think you have (BSS) or have been diagnosed with it, it would be very helpful to ask your doctor questions like these:
- What are the first symptoms of Bernard-Soulier Syndrome?
- What tests should I do to find out exactly if I have Bernard-Soulier Syndrome?
- What are the treatment options for Bernard-Soulier Syndrome?
- If I have Bernard-Soulier Syndrome, what can I do to prevent excessive bleeding?
- What activities should I not do because I have Bernard-Soulier Syndrome?
- What are the chances that my children will inherit Bernard-Soulier Syndrome from me?
In addition to these questions, don't be afraid to talk to the doctor about anything that comes to your mind.
Is having Bernard-Soulier Syndrome (BSS) during pregnancy a risk to the baby?
If you are pregnant and have BSS, you will need specialist medical care (high-risk obstetric and hematology care) . Your platelet count and overall health will need to be monitored regularly. During delivery, you may not be able to have certain types of anesthesia that increase the risk of bleeding.
Even after the baby is born, the baby's platelet count should be checked regularly. Because there is a chance that your baby may inherit the genetic mutation that causes ``(BSS)'' from you. Therefore, it is important to talk to your doctor about this and take the necessary steps.
What is the main problem caused by Bernard-Soulier Syndrome (BSS)?
In short, the main problem caused by ``BSS'' is the inability of the blood to clot . This is why excessive bleeding and easy bruising are the most common symptoms.
What other conditions cause symptoms similar to Bernard-Soulier Syndrome (BSS)?
There are several other conditions that cause bleeding problems and symptoms similar to BSS. It's good to know these by name only:
- `Hemophilia`
- `May-Hegglin anomaly`
- `Storage pool disease`
- `Glanzmann thrombasthenia`
- `Von Willebrand disease`
Based on your symptoms, only a doctor can determine exactly which of these diseases it is.
Our last words
Bernard-Soulier Syndrome `(BSS)` is a very rare condition that is inherited from your parents. If you have this condition, you may have some problems with blood clotting. However, it does not mean that you cannot live a normal life. The most important thing is to avoid risky situations that can lead to injury and always follow your doctor's advice.
See your family doctor regularly. He or she can answer your questions, help you manage this condition, and work with you to maintain your overall health. Don't be afraid, awareness and care are our greatest strengths when living with these conditions.
` Bernard-Soulier Syndrome, BSS, blood clotting, platelets, excessive bleeding, genetic diseases, bruising
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