Hemophilia

Hemophilia in children is a group of diseases in which a deficiency of coagulation factors (usually VIII and IX) leads to the development of hemorrhagic syndrome.

Congenital and acquired forms of hemophilia are distinguished. Congenital hemophilias are more common: hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency, Christmas disease). Hemophilia C (factor XI deficiency) is much less common, and concomitant hemophilia (simultaneous deficiency of factors VIII and IX), often accompanied by impaired color vision, is very rare. Acquired hemophilia in children is rare, usually with the appearance of antibodies to coagulation factors in autoimmune and myeloproliferative diseases.

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Epidemiology of hemophilia

The incidence of hemophilia is 13-14 per 100,000 men. The ratio of hemophilia A to hemophilia B is 4:1. Hereditary hemophilia is noted in 70-90% of patients, sporadic - in 10-30%.

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Classification of hemophilia

• Very severe form of hemophilia (in very severe form of hemophilia, the activity of factor VIII/IX does not exceed 0.99%).
• Severe form of hemophilia (factor VIII/IX activity is 1-2.99%).
• Moderate hemophilia (factor VIII/IX activity - 3-4%).
• Mild form of hemophilia (factor VIII/IX activity - 5-12%).
• Erased form of hemophilia (factor VIII/IX activity - 13-50%).

Type:

1. hemophilia A (deficiency of factor VIII activity of blood coagulation);
2. hemophilia B (deficiency of factor IX activity of blood coagulation);
3. hemophilia C (deficiency of the activity of blood coagulation factor XI).

Severity (course):

1. mild (factor activity - 5-10%);
2. moderate (factor activity less than 1-5%);
3. severe (factor activity less than 1%);
4. latent (factor activity above 15%).

Stage of hemarthrosis and arthropathy:

1. hemarthrosis without impairment of joint function;
2. hemarthrosis with adhesive fibrinous synovitis and osteoporosis, initial dysfunction of the joint;
3. regression with enlargement and complete deformation of joints, severe impairment of joint function;
4. sharp narrowing of the intra-articular space, sclerosis and cystic epiphyses, possible intra-articular fractures; ankylosis of the joints.

Hemophilia A is an X-linked recessive disease that affects only boys (frequency - 1 in 5000-10 000 children). Family history is indicative: in 75% of cases, increased bleeding is characteristic of male relatives on the maternal side.

Hemophilia B is an X-linked recessive disorder. Its incidence is approximately 4 times lower than that of hemophilia A.

Hemophilia C is a disease with an autosomal recessive type of inheritance, typical for both boys and girls. In the neonatal period, bleeding manifestations in hemophilia are extremely rare, only in cases of severe deficiency (the content of antihemophilic factors is below 3-5% of the norm). Hemophilia A and B are characterized by delayed (2-4 hours after birth) bleeding from the umbilical cord stump, hematomas (including cephalohematoma), and extremely rare intracranial hemorrhages. At the same time, hemophilia C in the neonatal period is characterized by the development of massive cephalohematomas, less often - bleeding from the umbilical cord stump.

Diagnosis of hemophilia in children is based on family history and laboratory tests (increased clotting time with normal bleeding time and platelet count; increased APTT with normal PT. The diagnosis is confirmed by determining the deficiency of factors VIII, IX or X.

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Treatment of hemophilia in children

Depending on the form of hemophilia, replacement therapy is used. In newborns, the doses of antihemophilic factors have not been worked out.

Hemophilia A

When 1 U/kg of antihemophilic globulin is administered, the activity of the endogenous antihemophilic factor increases by 2%. Blood coagulation factor VIII (Cryoprecipitate, Antihemophilic plasma) is usually used. 0.3 doses/kg are administered intravenously, and the administration is repeated if necessary.

Hemophilia B

Concentrate of blood coagulation factor IX is used (1 U/kg of body weight increases the level of the factor in the blood by 1%). The drug is administered intravenously, by bolus. Doses of the drug in adults range from 30 to 50 U/kg of body weight and even up to 100 U/kg in case of massive bleeding. Newborns are administered no more than 30 U/kg of body weight. The treatment is supplemented by transfusion of blood coagulation factor VIII (Cryoprecipitate, Antihemophilic plasma), containing coagulation factor IX, at a dose of at least 25 ml/kg of body weight intravenously by drip.

Hemophilia C

Blood coagulation factor VIII (Cryoprecipitate, Antihemophilic plasma) is used in a dose of at least 25 ml/kg of body weight intravenously by drip or a prothrombin complex preparation (15-30 U per 1 kg of body weight, intravenously by bolus).

In case of external bleeding, a pressure bandage, hemostatic collagen sponge (INN: Boric acid + Nitrofural + Collagen), thrombin, and ice are applied locally.