Bernard-Soulier syndrome is a congenital anomaly in the structure of platelets (thrombocytes) - they are very large and there are few of them. In addition, they do not join together at the site of vessel damage to stop bleeding. As a consequence, even the slightest trauma can lead to profuse and thus life-threatening hemorrhage. What are the causes and symptoms of Bernard-Soulier syndrome? What is the treatment?

Bernard-Soulier syndromeis congenital thrombocytopathy, which is a disorder of blood platelets (PLT). The disease produces a small number of very large, rounded thrombocytes, which prevent them from fulfilling their functions properly.

It is a very rare disease - about 100 cases have been described in the medical literature, mostly in Japan, Europe and North America. Its prevalence is estimated to be less than 1 / 1,000,000, but the figures are under-diagnosed due to misdiagnosis (the disease is often confused with other conditions).

Bernard-Soulier syndrome - causes

The disease is caused by genetic mutations that contribute to the lack or dysfunction of the GPI-b-V-IX complex on the surface of platelets. Under normal conditions, it binds to von Willebrand factor (blood coagulation factor) and initiates the process of platelets joining together at the site of vessel damage. Therefore, it is essential for the spontaneous control of bleeding.

The disease is inherited recessively, i.e. the child must receive a copy of the defective gene from both parents for the disease to develop.

Bernard-Soulier syndrome - symptoms

Immediately after giving birth or in early childhood,symptoms of hemorrhagic diathesis :

  • subcutaneous bleeding, i.e. bruising;
  • excessive bleeding after injuries;
  • spontaneous bleeding from the nose and / or gums;
  • in women long, heavy and often very painful periods;
  • gastrointestinal bleeding sometimes occurs (then blood appears in the stools or in vomiting);
  • blood in urine may also appear;

The severity of symptoms varies according to the severity of the disease.

Bernard-Soulier syndrome - diagnosis

In addition to an interview with the patient and physical examination, he or she ordersto be examined:

  • platelet count (it is underestimated, typically between 20,000 and 100,000 μl);
  • bleeding time - it is prolonged and may be moderate: 5-10 min or heavy:>20 min. In addition, no clot formation is observed;
  • factor VIII level - von Willebrand complex;
  • functional tests (platelet adhesion, aggregation, degranulation);
  • ristocetin-induced platelet agglutination - in this case, ristocetin does not initiate the von Willebrand factor binding process to the platelet receptor;

The test that should confirm the diagnosis isflow cytometryusing a panel of specific monoclonal antibodies (AD CD42). Once added to the sample, a device called a flow cytometer analyzes and detects platelets with an abnormal receptor structure.

In addition, the physician should rule out other diseases such as May-Hegglin anomaly, Epstein syndrome, Montreal plaque syndrome, and gray plaque syndrome.

Bernard-Soulier syndrome - treatment

In the event of bleeding on the surface of the skin and mucous membranes, local treatment is used. If the bleeding is more severe, platelet transfusions are used. The procedure is similar before surgery.

Patients should avoid even the smallest injuries and not take medications that impair platelet function, such as aspirin.

In women with heavy menstrual bleeding, the period is stopped with the use of hormones.

Two cases of stem cell transplantation in children with severe, life-threatening haemorrhage have been reported in the literature.

If bleeding occurs, immediately apply a cold compression dressing and immobilize the body area. The patient should be taken to the hospital as soon as possible, where he will be provided with specialist help.

Bernard-Soulier syndrome - prognosis

If the patient complies with the recommendations (e.g. avoids injuries, and thus life-threatening hemorrhages) and is under constant, proper medical care, the prognosis is good.

Category:

Cardiology