Hemophilia - a hereditary disease associated with defective plasma coagulation factors, characterized by bleeding disorders.This pathology is known since ancient times: in the II century BC, described the deaths of the boys from the ongoing bleeding that occurs after the circumcision procedure.The term "hemophilia" was proposed in 1828 and comes from the Greek words «haima» - blood and «philia» - a tendency, that is, "the tendency to bleed." Content
The disease occurs at a frequency of 1 in 50,000 newborns with hemophilia A is diagnosed more often: one case of illness per 10,000 people, and hemophilia B - l
Blood clotting - a set of complex biochemical processes and reactions whose purpose is to stop the bleeding in the event of damage to the vessel wall.Home role in this process belongs to the so-called coagulation factors.
Conditionally entire process of blood clotting can be divided into 3 stages:
Plasma clotting factors only 13. By reducing the body's level of at least one of them the normal clotting of blood is impossible.
As mentioned above, hemophilia - a hereditary pathology.The reason it is a mutation of the gene controlling the synthesis of a blood clotting factor.
As a result, the deficit factor does not form a normal clot, that is evolved bleeding does not stop on time.
Currently distinguish 3 forms of hemophilia:
leading clinical sign of the disease is excessive bleeding from the early days of baby's life.This manifests itself in all kinds of bruises, cuts and other interventions.There are deeper bleeding and bruising, prolonged bleeding during teething and tooth loss.
in a more adult patient are also the main symptom of spontaneous or occur after trauma or heavy bleeding hemarthrosises: hemorrhage into large joints.The joint with the hematoma increased in size, Patriotic, sharp pain.Repeated hemarthrosises cause inflammatory changes in the joint secondary nature, which subsequently lead to contractures (limitation of passive movements) and ankylosis (complete immobilization of the joint).As a rule, the changes affect only large (knee, elbow, ankle) joints and small (for example, joints, hands) are affected much less.As the disease progresses the number of affected joints also increased: in the pathological process may be involved up to 12 joints simultaneously.This often causes early - even in the age of 15-20 years - the patient's disability.
hematomas can occur not only in the joints.Cases subfascial, intermuscular and retroperitoneal hematoma.The volume of blood component hematoma, may be relatively small - 0.5 liters, and can reach impressive numbers - even up to 3 liters.
If the hematoma is so great that compresses the nerve or blood vessel, the patient has intense pain, symptoms of ischemia of an organ, in varying degrees of restriction or complete loss of voluntary movement: paresis or paralysis.
In severe cases of illness there is a risk of life-threatening patient's gastrointestinal and / or renal hemorrhage.First developing vomiting of blood content (so-called "vomiting coffee grounds") and a black liquid feces.When renal bleeding the patient pay attention to the red color of urine.
As mentioned above, women rarely suffer from hemophilia.The nature of the flow it also depends on the degree of deficiency of the missing factor;clinical manifestations of the standard.The only thing, it is believed that women, patients with hemophilia, as well as women-carriers of the abnormal gene the risk of postpartum hemorrhage is high enough.
The severity of haemophilia depends on the degree of reduction of clotting factor in the blood.By reducing it to less than 50% of the clinical signs are absent.For small reduction (in the range of 20-50% with respect to normal values) - bleeding develops after severe traumatic or background of the surgery.Individuals carrying the gene of hemophilia level of factor VIII or IX is also slightly reduced.By reducing the plasma concentration of Factor 5-20% of normal values bleeding arises against injury of moderate strength.If the level factor is very reduced and ranges from 1-5% of normal (this is a severe form of hemophilia), a patient having spontaneous bleeding into joints and soft tissues.Finally, a complete lack of clotting factor appears massive and spontaneous bleeding often occurs hemarthroses.
The disease is diagnosed on the basis of patient complaints, anamnesis (bleeding, hemarthrosis that appear in early childhood, perhaps someone from male relatives hemophiliac), typical clinical signs.When viewed from hemophilia doctor will pay attention to the deformed and defigurirovannye, with limited movements of large joints, with exacerbation and even painful.Atrophied muscles around the joints, limbs thinned.In the body of the patient has multiple bruising (hematoma), petechial hemorrhages.
If you suspect hemophilia patients underwent the following laboratory tests:
From instrumental studies recommend that the X-rays of the affected joints and pathological examination of tissues.
differential diagnosis of hemophilia should be carried out with such diseases:
therapy of the following objectives:
In hemophilia held replacement therapy the plasma clotting factor missing.The dose is determined individually depending on the values of the original factor level and body weight of the patient.Because the half-life of the drug is 8-12 hours, it should be administered 2-3 times a day.
Surgeries persons suffering from hemophilia, conducted strictly on the evidence against the backdrop of a mandatory substitution therapy.
Children with hemophilia should always carry a "bleeder passport", which indicates the type of disease, blood group and Rh factor of the patient, as well as principles for painted him first aid.Parents of a child with hemophilia, it is strongly recommended to have a supply of the drug scarce factor.
Patients should be under the watchful hematologist, traumatology, orthopedics, as well as from time to time to take control blood: general and biochemical.
This pathology responds well to treatment.With timely appointment of his quality of life greatly improved.In the absence of treatment of hemophilia quickly leads to permanent disability of the patient, and some of its complications can even become the cause of his death.
In many countries, particularly in Russia, created a special society for people with hemophilia.These organizations bring together patients with hemophilia, their families, medical professionals, scientists studying the pathology and simply those wishing to render any assistance to hemophiliacs.On the Internet there are sites of these communities, where anyone can find detailed information about what is hemophilia, familiarize yourself with the legal materials on this subject, talk at a forum with people who suffer from this disease, share experiences, ask for advice, if necessary - to getmoral support.
In addition, sites are usually posted a list of links to domestic and foreign resources - funds, organizations, information sites - with similar themes, giving the visitor the opportunity to thoroughly familiarize themselves with the problem of hemophilia or to meet people suffering from this pathology who live in his region.The creators of these communities are organizing a special conference, "school" for the sick, all kinds of social events in which anyone can take part hemophilia.
Therefore, if you, your relative or friend suffering from hemophilia, we encourage you to become a member of such a society: there you probably will find support and help in the fight against this serious disease.