Symptoms of hemophilia

Symptoms of hemophilia A and hemophilia B are identical; the type of hemophilia is established only in laboratory studies, including in the quantitative determination of clotting factors.

The severity of hemorrhagic syndrome in hemophilia A directly depends on the significance of trauma, coagulation activity and the level of antihemophilic factor VIII: less than 1% - severe, 1-5% - moderate, 5-10 - mild, more than 15% - latent form of the disease. The same degree of severity is used in hemophilia B for coagulation activity and level IX factor and hemophilia C (deficiency of XI activity of the blood clotting factor). Only a significant injury causes increased bleeding with a decrease in level and coagulation activity of VIII or IX factors by 50-25%, at a level of 25-5% large bleeding occurs from minor injuries or small surgical operations, with a level less than 5% - spontaneous bleeding occurs.

The first manifestations of hemorrhagic syndrome in hemophilia occur at the end of the first year of life, when breastfeeding ceases. In breast milk there is a sufficient amount of active thrombokinase, which compensates for the deficiency of clotting factors in patients with hemophilia (protective effect). After a year the child begins to actively move and the risk of injuries increases significantly, therefore up to 1 year hemophilia is diagnosed only in half of patients, and up to 4 years the diagnosis is established in 95% of cases.

At a hemophilia at children distinct age development of various signs of illness is marked. In severe forms of hemophilia in the newborn from the first hours of life there are extensive cephalohematemata, intradermal hemorrhages, sometimes late bleeding from the umbilical wound. In the second half of the year, gingival bleeding from the oral mucosa is often associated with traumatization of various objects, and hemorrhages in the buttock area are typical.

The course of hemophilia is characterized by periods of exacerbations and remissions.

The optional signs of hemophilia are the development of posthemorrhagic anemia, joint ankylosis and muscular atrophy.

Features of hemorrhagic syndrome in hemophilia in children are as follows.

Bleeding

Bleeding delayed, occur a few hours after the injury. Bleeding in the neonatal period: cephalohematoma, hemorrhages in the buttocks with breech presentation, bleeding from the umbilical cord. Later - bleeding with teething or with a bridle wound, bruises in the places of bruises and intramuscular injections, bleeding during circumcision of the foreskin.

Gastrointestinal bleeding is typical for older children, they are associated with erosive and ulcerative gastrointestinal pathology.

Frequency of different types of hemorrhage in hemophilia

Hemorrhage	Patients,%
Hemorrhages in the joints	94.8
Hemorrhages under the skin and in the muscles	93.1
External bleeding in cuts and other injuries	91.5
Nasal bleeding	56.9
Bleeding from the mucous membranes of the mouth	47.3
Bleeding at removal of a teeth	38.2
Macrogematuria	28.4
Gastrointestinal bleeding	19.6
Retroperitoneal hematoma	15.7
With surgical interventions without special training	10.8
In the mesentery and intestinal wall	6.9
In the brain and its membranes	14.0
Pulmonary haemorrhage	3.9
Under the tendon skull helmet	1.0

Hemorrhages

Possible hemorrhages in joints, more often in large: knee, ankle, elbow. Since the child's independent walking, the leading symptom is the intermuscular hematoma. Blood in the joint cavity causes inflammation of the synovial membrane, and repeated hemorrhages lead to destruction of articular cartilage, development of osteoarthritis, fibrosis and joint ankylosis followed by muscle atrophy. The affected joint usually becomes the site of repeated hemorrhages.

Hemorrhage in the ilio-lumbar muscle causes abdominal pain, flexural hip contracture (clinically simulates hip joint damage), stiffness of the muscles of the anterior abdominal wall, which is often mistaken for acute appendicitis. At palpation of the area of the affected muscle, a dense, painful formation is found.

Hematuria

Hematuria is more often noted in children older than 5 years. Its causes may be injuries of the lumbar region, immunocomplex kidney damage, high urokinase activity, oxaluria in patients with repeated hemarthrosis and frequent analgesic techniques, developmental anomalies or kidney problems. Macrogematuria often occurs spontaneously. Sometimes it is accompanied by dysuria, pain in the lumbar region (up to the renal colic), along the ureters or urethra. After several painful urge to urinate, blood clots and pains decrease.

An easy form of hemophilia is accompanied by minimal bleeding, and it is detected at a more mature age with surgical interventions or significant trauma.

Intracranial hemorrhages are the most dangerous; according to different data, their frequency is 4-13%, and their mortality rate reaches 70%. With increasing intracranial hematoma, there are: complaints of headache, anxiety, disorientation and impaired consciousness, stem symptoms (nystagmus, anisocoria), stasis in the vessels of the fundus, bradycardia and pathological types of respiration.

[1], [2], [3]