Factor XIII deficiency

The disease is transmitted by an autosomal recessive type of inheritance.

The slowest healing of the umbilical wound and bleeding from it during the first 3 weeks of life is the most frequent and the earliest indication of a deficiency of blood coagulation factor XIII, which is observed in almost all individuals with this disease. Umbilical haemorrhages are often so persistent and abundant that they require transfusions of blood or its components. The second frequent and very dangerous group of bleeding are hemorrhages in the brain and its membranes at birth or during the first year of life. They are registered in almost half of people with this disease, are prone to recurrence and serve as one of the main causes of death and severe disability. Sometimes hemorrhages lead to epilepsy. At a fairly early age, gastrointestinal bleeding can occur, a discharge of blood with urine visible to the naked eye, and hemorrhages into the abdominal cavity. These manifestations of the disease develop more rarely and are less dangerous than intracranial hemorrhages. In the future, the frequency of bleeding increases. Often there are spotty hemorrhages in the skin, bruises, subcutaneous and intermuscular bruises, about 1/5 of those suffering from this pathology of blood clotting have joint hemorrhages. There are hemorrhages in the peritoneum and retroperitoneal hematomas, which mimic acute surgical diseases of the abdominal cavity, renal colic, ectopic pregnancy.

The literature describes a woman who had massive uterine bleeding during 12 pregnancies, which resulted in all pregnancies ending with spontaneous abortion. At the 13th pregnancy, there was a deficiency of factor XIII and substitution therapy with intravenous administration of blood products was carried out. Under the influence of such treatment, pregnancy proceeded without complications and ended with the birth of a normal child.

With mild forms of the disease, hematomas usually do not already occur and bleeding is mainly observed after trauma. A characteristic feature of the expressed deficiency of factor XIII of blood coagulation is poor healing of wounds and fractures. With an easier course of the disease, healing is not significantly impaired.

The main method of treatment is substitution therapy, which is highly effective when there is a deficiency of XIII coagulation factor and does not present any technical difficulties. This factor is well preserved in blood preparations, namely in natural and dry plasma, circulates continuously in the blood after intravenous administration( the period of conservation of activity is more than 4 days), provides normal blood clotting.

Bleeding is usually stopped by intravenous rapid injection of a donor plasma, which is repeated every 4-5 days if necessary. A lot of factor XIII is contained in cryoprecipitate. Of non-specific drugs with a deficiency of factor XIII, e-aminocaproic acid is more often used.