What Is Bernard-Soulier syndrome (BSS)

Bernard-Soulier Syndrome, often referred to as BSS, is a rare genetic disorder that affects the blood’s ability to clot properly. In this article, we’ll break down BSS in simple terms to make it easy to understand. We’ll cover its types, causes, symptoms, diagnostic tests, treatments, and relevant drugs, aiming to improve the accessibility of information about this condition.

Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily. Most cases of Bernard-Soulier syndrome are inherited in an autosomal recessive genetic pattern.[rx]

Types of Bernard-Soulier Syndrome

There are different types of BSS, but they all share the same fundamental problem: a lack of certain proteins in the blood that help with clotting. These types include:

1. Type 1 BSS: This is the most common type and involves a deficiency of a protein called glycoprotein Ib-IX-V.
2. Type 2 BSS: In this type, there is a problem with the function of glycoprotein Ib-IX-V, even if it’s present in sufficient amounts.

Causes of Bernard-Soulier Syndrome

BSS is a genetic disorder that affects the ability of the platelets in the circulating blood to bind with a damaged blood vessel and hence to clot blood. These platelets are missing an essential protein called the glycoprotein Ib-IX-V complex (GPIb). The Gp1b complex is composed of 4 protein subunits that bind closely together (GP1b-alpha, GP1b-beta, GP9 and GP5). BSS is caused by mutations in one of the Gp1b complex genes- so far mutations have been found in BP1b-alpha, Gp1b-beta and GP9 but no mutations have been found in GP5. Normally the GP1b complex sticks out of the platelet’s surface and binds with another protein found in the circulating blood called von Willebrand factor. If one of these proteins is missing or abnormal, they cannot bind correctly to begin the clotting process and excessive bleeding results.[rx]

Bernard-Soulier syndrome is usually inherited in an autosomal recessive genetic pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.[rx]

BSS is a genetic condition, which means it is passed down from parents to their children through their genes. It’s caused by mutations in specific genes responsible for the production of the clotting proteins. The main causes include:

1. Inherited Mutations: The most common cause of BSS is inheriting mutated genes from one or both parents.
2. Autosomal Recessive Inheritance: BSS can be inherited when both parents carry a mutated gene but do not show symptoms themselves.
3. Autosomal Dominant Inheritance: In some cases, only one parent carries the mutated gene and can pass it on to their child.

Symptoms of Bernard-Soulier Syndrome

The symptoms of Bernard-Soulier syndrome, which are typically apparent at birth and continue throughout life, may include the tendency to bleed excessively from cuts and other injuries, nosebleeds (epistaxis), and/or an unusually heavy menstrual flow in women. Some babies and children with BSS have no symptoms and the disorder does not present until adult life. People with this disease also bruise easily and the bruises tend to linger. Bleeding from very small blood vessels under the skin (subcutaneous) may cause small or widespread areas of small red or purple colored spots (purpura or petechiae).[rx]

The symptoms of BSS can vary from person to person, but some common ones include:

1. Easy Bruising: People with BSS tend to bruise easily because their blood doesn’t clot properly.
2. Excessive Bleeding: Even minor cuts or injuries can lead to prolonged bleeding in individuals with BSS.
3. Nosebleeds: Frequent nosebleeds can be a sign of this condition.
4. Heavy Menstrual Periods: Women with BSS may experience heavier-than-normal menstrual bleeding.
5. Gum Bleeding: Gum bleeding, especially during dental procedures or brushing, is common.
6. Blood in Urine or Stool: Some individuals may notice blood in their urine or stool.
7. Prolonged Bleeding After Surgery: Surgery can be riskier for those with BSS due to the difficulty in stopping bleeding.
8. Blood in Joints: In severe cases, blood can accumulate in joints, causing pain and swelling.
9. Frequent Infections: BSS can also weaken the immune system, leading to more frequent infections.

Diagnostic Tests for Bernard-Soulier Syndrome

The diagnosis of Bernard-Soulier syndrome is made by a combination of blood testing to reveal whether platelets are at abnormally low levels (thrombocytopenia), microscopic examination to determine the presence of abnormally large platelets and irregularly shaped platelets, and a test called ‘flow cytometry, which is able to measure the level of expression of the missing protein ion the outside of platelets affected by Bernard-Soulier syndrome. In recent years, most families are offered molecular genetic testing to identify which gene carries the mutations.[rx]

Diagnosing BSS typically involves a series of tests to confirm the condition. Some of the key diagnostic tests include:

1. Complete Blood Count (CBC): This test checks the levels of different blood components, including platelets, which are often low in BSS.
2. Platelet Function Tests: These tests assess how well your platelets are working and can help identify clotting issues.
3. Genetic Testing: By analyzing your DNA, genetic tests can identify mutations in the genes associated with BSS.
4. Bleeding Time Test: This test measures how long it takes for your blood to clot after a small incision is made on your skin.
5. Electron Microscopy: A specialized microscope can reveal abnormalities in your platelets’ structure.

Treatments for Bernard-Soulier Syndrome

Platelet transfusion is used to treat Bernard-Soulier syndrome when surgery is necessary or when there is a risk for life-threatening hemorrhage. Some patients with Bernard-Soulier syndrome become resistant (refractory) to platelet transfusions because they develop antibodies against the GPIb protein- to reduce this risk it is now recommended that specially selected platelet transfusions (from HLA-matched single donors) should be used. [rx]Where HLA-matched platelets are not available, leucocyte-depleted platelets can be used (these are platelet transfusions from which contaminating white blood cells-leucocytes- have been removed). People with this disorder should not take aspirin or other related drugs because these medications affect the blood’s ability to clot (platelet aggregation). It is suggested that acetaminophen, which is present in medications such as Tylenol, is used for the relief of mild pain. Antifibrinolytic agents (drugs which delay the breakdown of blood clots) are often useful to help reduce bleeding after minor surgery (eg dental surgery) or for prolonged nosebleeds. The most commonly used antifibrinolytic drug is tranexamic acid (also known as epsilon aminocaproic acid).[rx]

While there is no cure for BSS, there are treatments and strategies to manage the condition and prevent excessive bleeding. Treatment options include:

1. Desmopressin (DDAVP): This medication can stimulate the release of more clotting proteins in your blood.
2. Platelet Transfusions: Infusions of healthy platelets can temporarily improve clotting.
3. Clotting Factor Concentrates: Some patients may benefit from clotting factor concentrates, which contain the missing proteins.
4. Antifibrinolytic Medications: These drugs help prevent the breakdown of clots and reduce bleeding.
5. Bone Marrow Transplant: In severe cases, a bone marrow transplant may be considered to replace defective cells with healthy ones.
6. Regular Monitoring: It’s important to have regular check-ups with a hematologist to monitor your condition and adjust treatment as needed.
7. Avoiding Certain Medications: Some medications can worsen bleeding in BSS patients, so it’s essential to avoid them.

Drugs for Managing Bernard-Soulier Syndrome

There are specific drugs that doctors may prescribe to manage the symptoms of BSS:

1. Desmopressin (DDAVP): This medication can be used to temporarily increase clotting protein levels.
2. Antifibrinolytic Drugs: Medications like tranexamic acid can help prevent the breakdown of clots and reduce bleeding.
3. Platelet Transfusion: Infusions of healthy platelets may be required in case of severe bleeding.
4. Clotting Factor Concentrates: These concentrates contain the missing clotting proteins and can be administered when necessary.

In Conclusion

Bernard-Soulier Syndrome is a rare genetic disorder that affects the blood’s ability to clot properly. It is caused by mutations in specific genes and can lead to symptoms like easy bruising, excessive bleeding, and nosebleeds. Diagnosis involves various tests, including genetic testing and platelet function tests. While there is no cure, treatments like desmopressin, platelet transfusions, and antifibrinolytic medications can help manage the condition and improve the quality of life for those with BSS. Regular monitoring by a hematologist is essential to adjust treatment as needed and ensure the best possible outcomes for individuals with this condition.

 

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

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