Symptoms of hemophilia

The symptoms of hemophilia A and hemophilia B are identical; the type of hemophilia is determined only by laboratory testing, including quantitative determination of clotting factors.

The severity of hemorrhagic syndrome in hemophilia A directly depends on the significance of the injury, 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 gradation of severity is used in hemophilia B in relation to coagulation activity and the level of factor IX and hemophilia C (deficiency of the activity of coagulation factor XI). Only significant injury causes increased bleeding with a decrease in the level and coagulation activity of factors VIII or IX by 50-25%, at a level of 25-5% major bleeding occurs from minor injuries or minor surgeries, at a level of 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 stops. Breast milk contains a sufficient amount of active thrombokinase, which compensates for the deficiency of blood clotting factors in patients with hemophilia (protective effect). After a year, the child begins to move actively and the risk of injury increases significantly, so up to 1 year, hemophilia is diagnosed in only half of patients, and up to 4 years, the diagnosis is established in 95% of cases.

In children with hemophilia, there is a distinct age-related evolution of various symptoms of the disease. In severe forms of hemophilia, the newborn already has extensive cephalohematomas, intradermal hemorrhages, and sometimes late bleeding from the umbilical wound from the first hours of life. In the second half of the year, gum bleeding from the oral mucosa often occurs, associated with its traumatization by various objects, and hemorrhages in the buttocks area are also typical.

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

Optional signs of hemophilia are the development of posthemorrhagic anemia, joint ankylosis and muscle atrophy.

The characteristics of hemorrhagic syndrome in hemophilia in children are as follows.

Bleeding

Delayed bleeding occurs several hours after the injury. Bleeding in the neonatal period: cephalohematoma, hemorrhages in the buttocks during breech presentation, bleeding from the umbilical cord. Later - bleeding during teething or when the frenulum of the tongue is injured, hematomas at the sites of bruises and intramuscular injections, bleeding during circumcision.

Gastrointestinal bleeding is typical for older children and is associated with erosive and ulcerative pathology of the gastrointestinal tract.

Frequency of different types of hemorrhage in hemophilia

Hemorrhages	Sick, %
Hemorrhages in joints	94.8
Hemorrhages under the skin and into muscles	93.1
External bleeding from cuts and other injuries	91.5
Nosebleeds	56.9
Bleeding from the mucous membranes of the oral cavity	47.3
Bleeding during tooth extraction	38.2
Macrohematuria	28.4
Gastrointestinal bleeding	19.6
Retroperitoneal hematomas	15.7
For surgical interventions without special preparation	10.8
Into the mesentery and intestinal wall	6.9
Into the brain and its membranes	14.0
Pulmonary hemorrhage	3.9
Under the tendon helmet of the skull	1.0

Hemorrhages

Hemorrhages into joints are possible, most often into large ones: knees, ankles, elbows. From the moment the child can walk independently, intermuscular hematomas become the leading symptom. Blood in the joint cavity causes inflammation of the synovial membrane, and repeated hemorrhages lead to the destruction of articular cartilage, the development of osteoarthritis, fibrosis and ankylosis of the joint with subsequent muscle atrophy. The affected joint usually becomes the site of repeated hemorrhages.

Hemorrhage into the iliopsoas muscle causes abdominal pain, flexion contracture of the hip (clinically imitates damage to the hip joint), rigidity of the muscles of the anterior abdominal wall, which is often mistaken for acute appendicitis. When palpating the area of the affected muscle, a dense painful formation is found.

Hematuria

Hematuria is more often observed in children over 5 years of age. It can be caused by lumbar trauma, immune complex kidney damage, high urokinase activity, oxaluria in patients with repeated hemarthrosis and frequent use of analgesics, developmental anomalies or position of the kidneys. Macrohematuria often occurs spontaneously. Sometimes it is accompanied by dysuria, pain in the lumbar region (up to renal colic), along the ureters or urethra. After several painful urges to urinate, blood clots come off and the pain subsides.

A mild form of hemophilia is accompanied by minimal bleeding and is detected at a more mature age during surgical interventions or significant injuries.

Intracranial hemorrhages are the most dangerous; according to various sources, their frequency is 4-13%, and the mortality rate reaches 70%. With an increasing intracranial hematoma, the following are noted: complaints of headache, anxiety, disorientation and impaired consciousness, brainstem symptoms (nystagmus, anisocoria), congestion in the vessels of the fundus, bradycardia and pathological types of breathing.

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