Рідкісні порушення згортання крові

Abstract

The problem of impaired hemostasis remains relevant even today. Rare bleeding disorders that cause life-threatening bleeding in patient are often overlooked by clinicians. Rare blood coagulation disorders are a genetically determined group of coagulopathies caused by a deficiency of blood plasma proteins involved in hemostasis, as well as a deficiency of fibrinogen, prothrombin, blood coagulation factor V (FV), blood coagulation factors V and VIII (FV+FVIII), blood coagulation factor VII (FVII), blood coagulation factor X (FX), blood coagulation factor XI (FXI), blood coagulation factor XII (FXII), blood coagulation factor XIII (FXIII), which are clinically are manifested by bleeding. The amount of the factor determines not only the nature of bleeding, but also their severity and prognosis for the disease. In such patients, the general hemostatic balance is important, since the level of each blood coagulation factor and the general control of hemostasis, which can determine the risk of bleeding, remain important. Purpose - to draw the attention of doctors of various specialties to the problem of clinical manifestations of rare hereditary disorders of blood coagulation, which can be accompanied by bleeding that poses a threat to the health and life of patient. Clinical case. A clinical case is presented that illustrates the course of a rare blood coagulation disorder in children from one family, where a comprehensive diagnostic search was conducted by doctors of various specialties to establish a final diagnosis. Conclusions. Rare blood coagulation disorders are a pathology that is not often found in the population, but clinical symptoms can have negative consequences for a person's health and life. Children with various manifestations of hemorrhagic syndrome need a thorough diagnostic examination in specialized laboratories. Physicians of related specialties should look for a possible rare deficiency of the coagulation factor in early and late complications in the postoperative period or after medical manipulations. It is necessary to remember the hereditary genesis of this pathology and examine all family members. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.