What is Bernard Solier's Syndrome? Symptoms, causes, and treatment of a rare genetic disease

Collection: Diseases and the way of treatment

Bernard Solier's syndrome is a rare genetic disorder

Whatever you need to know about Bernard Solier's syndrome; From causes to existing treatments

Bernard Soller's syndrome (BSS) is a rare disorder that affects the blood clotting process. Blood clotting is a process that prevents excessive bleeding during injury.

Platelets and plasma, two main components of blood, play an important role in the formation of blood clots. People with Bernard Solier syndrome usually have less platelets than usual (thrombocytopenia). Their platelets are also larger than normal. For this reason, these people usually find bleeding or bruising easily.

Bernard Solier's syndrome causes problems with blood clots

The outbreak of Bernard Solier's syndrome

Bernard Soller's syndrome is rare. Experts estimate that the disease occurs only about 2 out of every million people worldwide.

What are the symptoms of Bernard Solier's syndrome?

Infants with Bernard Saller's syndrome usually show symptoms early in their lives. People with the following are usually the following:

• Easy bruises that take more time than usual to recover.

• Severe bleeding from small cuts or minor injuries.

• Repeated nasal bleeding (epistaxis).

• Bleeding under the skin.

• Severe abnormal bleeding during menstruation.

What causes Bernard Soller's syndrome?

Bernard Solier's syndrome is a genetic disorder, meaning that the disease is caused by the genetic change (mutation) that exists from birth. It is also hereditary, which means that your parents transmit this gene mutation to you.

Bernard Solier's syndrome occurs in GP1BA, GP1BB or GP9 genes. All of these genes affect how blood clots are formed in your body.

Easy bruising and excessive bleeding are the main symptoms of Bernard Solier's syndrome

How is Bernard Soller's syndrome diagnosed?

Your doctor will use blood tests to diagnose Bernard Soller's syndrome. These tests examine the number of platelets in your blood and identify the gene mutations that cause this syndrome. Your doctor may also check your blood sample under the microscope to determine if your platelets are abnormal.

An experiment called platelet flow cytometry measures glycoproteins of 1BA, 1BB and 9 on platelet surface.

How is Bernard Soller's syndrome treated?

Treatment of Bernard Solier's syndrome is usually focused on preventing excessive bleeding and preventing the complications associated with this syndrome. The doctor may recommend the following:

Avoid drugs that increase the risk of bleeding, such as non -steroidal anti -inflammatory drugs (NSAIDS), aspirin or antihistamines.

• Brush with a soft toothbrush to reduce the possibility of gum bleeding.

• Learn appropriate ways to pressure the nose to stop nose bleeding.

• Limited or avoided eating foods and drinks such as alcohol and refined supersons that can affect the number of platelets.

• Registration at a 4 -hour emergency center that can help you in times of emergency bleeding.

• Iron supplements in the event of iron deficiency.

• Using a bracelet or medical identification label that clearly shows your diagnosis.

Possible treatments for Bernard Solier's syndrome include:

• Platelet Transfer: This is usually the first treatment line for people with emergency bleeding or preparing for surgery. In this method, the donated platelets will be injected through a venous line (IV) to help with blood clots.

• Anticircular treatment: Anti -fibrinolytic drugs help blood clotting. The doctor may prescribe transmitamic acid (Transamic Acid or Cyklokapron®) to control the bleeding.

Most patients with Bernard Solier Syndrome can live a normal life

How to prevent Bernard Solier's syndrome?

There is no way to prevent Bernard Solier's syndrome. If you have a gene mutation that causes this syndrome or you may think you may have this mutation, you should think of genetic counseling and testing. Genetic counselor can help you understand the risks and effects of transferring this syndrome to children.

What is the prospect of life with Bernard Solier's syndrome?

Most people with Bernard Saller's syndrome can live a normal life. If you have this disease, you need to take more precautions to prevent injury. For example, you may need to avoid collision exercises, as they increase the risk of injury.

You should also refer to your general practitioner regularly to ensure your overall health. You and your treatment team should carefully plan optional surgery. You may need to transfer platelets before surgery.

Blood tests are performed to diagnose Bernard Soller's syndrome

Frequently Asked Questions Bernard Seller's Syndrome

1. Does Bernard Solier's Syndrome pose risks to pregnancy?

If you are pregnant and have Bernard Solier's syndrome, you should be careful about risky gynecologists and hematology. You need careful monitoring to measure the number of platelets and your overall health. You may not be able to use some types of anesthesia that have the risk of bleeding during childbirth. Your baby needs regular tests to monitor the number of platelets. It is possible to transfer the gene mutation to the baby.

2. What is the main problem of Bernard Solier's syndrome?

This syndrome mainly causes problems with blood clots. If you have this disease, blood clotting problems often cause excessive bleeding or easy bruising after injury.

3. Which diseases have the same symptoms as Bernard Seller's syndrome?

Several diseases may cause bleeding problems and similar symptoms to this syndrome, including: hemophilia, magin abnormalities, storage reservoir disease, thrombassonia Golanzmanan, vonvillendend.

The last word

Bernard Soller's syndrome (BSS) is a rare disorder that you are inherited by parents. If you have this disease, you will probably have problems with blood clots, but that does not mean the impossibility of normal life. You may need to be careful about activities that increase the risk of injury and lead to excessive bleeding. See your doctor regularly to answer your questions, help you manage the disease and work with you to maintain overall health.

Collected:Bitote Health