HEMOPHILIA

Hemophilia - a hereditary disease caused by deficiency of plasma coagulation factor VIII

(hemophilia A) or IX (hemophilia B) and is characterized by bleeding gematomnogo type.

Etiology and pathogenesis

Depending on the deficiency of blood coagulation factors distinguish two types of hemophilia:
hemophilia A, characterized by lack of al-globulin tigemofilnogo - factor VIII, and hemophilia
B, accompanied by coagulation disorders due to deficiency of plasma thromboplastin component
- the factor IX. Hemophilia A occurs in 5 times more common than hemophilia B.

Hemophilia A and B (N, recession) ill mostly men. Pathological X chromosome with the gene
for hemophilia is passed from a sick father daughters. This daughter of themselves do not suffer
from hemophilia, as amended (from father) chromosome X offset their high-grade (mother)
chromosome X. Daughters of a patient with hemophilia are carriers of the gene for hemophilia,
hemophilia transferring half of the sons who inherit the changed (containing the gene for
hemophilia) chromosome X. Sons who inherit the maternal chromosome X, hemophilia do not
get sick. In hemophilia approximately 25% of patients do not reveal family history, indicating a
tendency to bleeding, which is due, apparently, with a new mutation of the gene. This so-called
spontaneous form of hemophilia. Appearing in the family, she, like the classic, later became
hereditary.

The cause of bleeding in haemophilia is a violation of the first phase of blood coagulation - the
formation of thromboplastin in connection with a hereditary deficiency Antihemophilic Factor
(VIII, IX). Clotting time in hemophilia increased, sometimes in the blood of patients is not rolled
over several hours.

Clinical picture

Hemophilia can occur at any age. The earliest signs of disease can be bandaged and bleeding
from the umbilical cord in newborns kefalogematoma, bleeding under the skin. In the first year
of life in children with hemophilia, bleeding may occur during teething. The disease is often
identified after the year when the child begins to walk, becomes more active, and therefore
increases the risk of traumatization.Hemophilia gematomny peculiar type of bleeding, which is
characterized hemarthrosis, hematoma, delayed (late) bleeding.

A typical symptom of hemophilia - bleeding into joints (hemarthrosis), very painful and often
accompanied by high fever. Likely to suffer knee, elbow, ankles, rarely - shoulder, hip and small
joints of hands and feet. After the first hemorrhage blood into the synovial cavity is gradually
dissolves, joint function is restored. When repeated hemorrhages formed fibrinous clots, which
are deposited on the joint capsule and cartilage, and then germinate connective tissue. Joint
cavity obliterans-hsia, develops ankylosis. In hemarthrosis in hemophilia possible bleeding in the
bone tissue, leading to aseptic necrosis, decalcification of bones.
 For Hemophilia is characterized by extensive hemorrhage, which tends to spread, often caused
bruising - the deep intermuscular hemorrhage. Resorption of them has been slow. Izlivshayasya
blood remains liquid for a long time, so easily penetrates into the tissue and along
fascial. Hematomas can be so great that compress the peripheral nerve trunks or large arteries,
causing paralysis and gangrene. This gives rise to intense pain.

Hemophilia characterized by prolonged bleeding from the mucous membranes of the nose,
gums, mouth, fewer gastrointestinal tract, kidneys. Severe bleeding can cause any medical
manipulations, especially intramuscular injection. Risk of bleeding from the mucous membrane
of the larynx, as they may cause acute obstruction of the respiratory tract, and therefore may
require tra-heostomiya. To cause prolonged bleeding tooth extraction and tonsillectomy. Possible
bleeding in the brain and meninges, resulting in death or severe impairment of

CNS.
The peculiarity of hemorrhagic syndrome in haemophilia - delayed, late nature of
bleeding. They usually do not emerge immediately after the injury, but after a while, sometimes
it takes 6-12 hours or more, depending on the intensity of trauma and severity of illness, is due to
the fact that primary hemostasis, platelets carry content that is not changed.

The degree of deficiency Antihemophilic factor is subject to fluctuation, which determines the
periodicity in the manifestations of bleeding. The severity of hemorrhagic manifestations in
hemophilia associated with the concentration of Antihemophilic Factor (Table 14-3).

Table 14-3. Hemophilia, depending on the concentration

Antihemophilic Factor

Hemophilia Concentration of Antihemophilic Factor,%

Weightlifting Less than 3

Moderate 3.5
Light 6-15
Latent Above 15
Subclinical 16-35

Diagnosis and differential diagnosis

Diagnosis of hemophilia is based on family history, clinical presentation and laboratory data,
including the leading role are the following changes.

Increasing the duration of withdrawal of capillary and venous blood.

Deceleration time recalcification.

 Violation education thromboplastin.

Reducing consumption of prothrombin.

Reducing the concentration of one of Antihemophilic Factor (VIII, IX). The duration of
bleeding and platelet count in hemophilia are normal, the sample tow, emergency care and other
endothelial samples are negative. Painting peripheral blood has no specific changes except for
more or less severe anemia due to bleeding.

Hemophilia differentiate with von Willebrand's disease, trombasteniey Glyantsmanna,

thrombocytopenic purpura (see relevant sections).

Treatment

The primary method of treatment - replacement therapy. At present, to that end Concentrates
VIII and IX clotting factors. Doses depend on the level of concentrates VIII or factor IX in each
patient, the type of bleeding.

In hemophilia A the most widely used drug concentrated Antihemophilic globulin -

cryoprecipitate, which is prepared from fresh frozen human blood plasma.

For the treatment of patients with hemophilia in applying an integrated drug PPSB, containing
factors II (prothrombin), VII (prothrombin), IX (plasma thromboplastin component) and X
(Stuart-Prauer).

All Antihemophilic drugs injected bolus, immediately after their raskonservirovaniya. Given the
half-life of factor VIII (8-12 h) Antihemophilic drugs in haemophilia A injected 2 times a day,
and in hemophilia B (half-life of factor IX 18-24 h) -- 1 time per day.

When hemarthrosis in the acute period needed complete rest, short-term (3-5 days)
immobilization of the limb in the physiological situation. At a massive hemorrhage immediately
recommend to arthrocentesis with aspiration of blood and the introduction of the joint cavity of
hydrocortisone. In the future, displaying a gentle massage of the muscles affected limb, the
cautious use of physiotherapy and therapeutic exercises. In the case of ankylosis demonstrated
surgical correction.

Intensive replacement-transfusion therapy in patients with hemophilia can lead to

isoimmunization, the development inhibitor hemophilia. The appearance of inhibitors of factors
VIII and IX clotting complicates treatment, because the inhibitor neutralizes input antigemo
philous-factor, and the usual substitution therapy is ineffective. In these cases, prescribe
plasmapheresis, immunosuppressants. However, the positive effect does not occur in all
patients. Complicate hemo-static treatment using cryoprecipitate and other resources also include
infection with HIV, hepatitis with parenteral route of transmission, cytomegalovirus and herpes
infections.
Prevention

The disease is incurable, primary prevention is not possible. Of great importance is prevention of
bleeding. Avoid intramuscular injection of drugs because of the risk of hematomas. Medications
advisable to appoint given intravenously or orally. A child with hemophilia should visit the
dentist every 3 months to prevent the possible extraction of a tooth. The parents of children with
haemophilia should be familiar with the peculiarities of care for children with this disease and
the principles of providing them first aid. Because the person with hemophilia can not do
physical work, parents must develop his penchant for intellectual work.

Forecast

Forecast depends on the severity of the disease, the timeliness and adequacy of therapy.