Thrombosthenia with persistent bleeding

This is the 3831st article of Da Yi Xiao Hu

A disease that relies on platelet transfusions

Weiwei (pseudonym), a 5-year-old girl living in Xiangtan city, Hunan, is a "regular visitor" to the Municipal People's Hospital. Because she suffers from the rare "thrombasthenia", she has to go to the hospital for platelet transfusions almost every month. In the past 3 years, she has been hospitalized more than 30 times.

As early as three years before the treatment, Weiwei's parents found that Weiwei would bleed from the nose easily. The mother was very anxious, because other children's nose bleeding would be fine after a while, but Weiwei's bleeding would take a long time to stop.

Weiwei's parents took her to the hospital for a blood test. Multiple tests showed that Weiwei's platelet count and coagulation function were normal, but the cause of the bleeding could not be determined.

Later, the parents took the child to Wuhan to see an expert, and it was finally diagnosed that the child had "thrombasthenia."

What is thrombasthenia?

Thrombosthenia is an extremely rare disease, an autosomal recessive hereditary disease, which is more common in children of consanguineous marriages. Among the more than 100 cases reported in China, the ratio of males to females is equal. It is mainly caused by abnormalities in the quality of platelet membrane glycoproteins 2b and 3a.

What are the symptoms of thrombasthenia?

The clinical manifestations are mainly bleeding of varying degrees, which often occur in childhood, such as umbilical cord bleeding, skin ecchymosis, nose bleeding, and gum bleeding at birth. Trauma, surgery, and abnormal delivery can cause severe bleeding, but there is no deep hematoma. Female patients may have menorrhagia, while intracranial bleeding, visceral bleeding, and joint bleeding are relatively rare.

How to treat thrombasthenia

This disease is a genetic disease and there is no specific drug yet. Gene therapy is currently under study.

1. Local bleeding can be stopped by applying pressure.

2. Platelet suspension can be transfused when bleeding is severe. However, multiple transfusions can cause alloimmune reactions and the formation of GPⅡb-Ⅲa antibodies. Therefore, it is best to transfuse single-donor platelets with AB0 and HLA matching that have been removed from the white blood cells.

3. Norethindrone (Fukang Tablets) and contraceptive pills can effectively control menstruation. In recent years, there have also been reports of good hemostatic effects with recombinant human factor VⅡa. Heterozygous (the genotypes of paired genes are different) patients can significantly improve their symptoms by undergoing bone marrow transplantation with HLA-matched donors for patients with severe bleeding.

4. Antiplatelet drugs are strictly prohibited. For patients with chronic blood loss, iron supplements should be given in time, and folic acid supplements should be given when necessary. Maintaining oral hygiene is very important to reduce gum bleeding.

5. Patients with mild bleeding can generally use local compression to stop bleeding. For example, gingival bleeding can be controlled by local absorbable gelatin sponge and thrombin. Systemic or local antifibrinolytic drugs can be used as auxiliary measures for gingival bleeding and tooth extraction. For patients undergoing tooth extraction, tonsillectomy, circumcision, childbirth and other surgical procedures, platelet transfusion should be given prophylactically until the wound is completely healed. Epistaxis may sometimes be difficult to control, and even arterial ligation or arterial embolization may be required to stop bleeding. Female patients with menorrhagia can take contraceptive pills. For most patients with severe bleeding, platelet transfusion may be the most effective measure, but repeated transfusions may transmit viral diseases or produce alloimmunity, the latter of which will make platelet transfusion ineffective. Allogeneic bone marrow transplantation may be effective for patients with severe bleeding who are ineffective with platelet transfusion. So far, there have been two reports of successful allogeneic bone marrow transplantation for this disease, but the pros and cons should be weighed when considering this measure because bone marrow transplantation itself is very risky.

Prognosis and prevention of thrombasthenia

There is no cure for this disease, nor is there a way to prevent spontaneous bleeding, so the main treatment is symptomatic treatment. The prognosis of this disease is usually good.

The preventive measures for this disease are to strictly prohibit consanguineous marriage, carry out genetic counseling and prenatal examinations, avoid trauma and surgery, and avoid the use of drugs that affect platelet function.

*Shanghai Science Education Development Foundation (Project No.: B202117)

Author: Shanghai Jing'an District Central Hospital

Dr. Xia Lemin