Aplastic anemia - a pathology characterized by progressive impaired hematopoiesis function and decreased production of key components of the blood. This disease is rare.
It is diagnosed mainly in young people from 10 to 25 years. In addition, the increased risk of disease in people over 50 years. This pathological condition without targeted treatment can lead to severe complications and death.
Causes and development process
Reasons aplastic anemia can be divided into innate and acquired. The most common variety of congenital anemia Fanconi disease is considered. It is a hereditary pathology transmitted from parents. It is accompanied by inhibition of hematopoietic function and violation of internal organs structure.
The cause of this disease lies in the genetic abnormality that makes the DNA of the cells is very sensitive to the influence of damaging agents. Pronounced manifestations of the disease are observed in only 25% of children, which are transmitted abnormal gene.
Causes of anemia can be covered and the impact of various exogenous factors. These include:
- contact with radioactive substances;
- taking certain medications;
- viral infection;
- reactions to drug administration vaccination;
- work in artificial light;
- parasitic infestation;
- traumatic injury of long bones;
- frequent stay in a state of stress;
- oil poisoning, mercury, etc.
This disease is hematopoietic system may occur against the background of unfavorable course of pathologies of the ovaries, thyroid and thymus. Anemia can develop on the background of the following diseases of the connective tissue:
- rheumatoid arthritis;
- lupus erythematosus;
- Sjogren's syndrome.
The mechanism of development of aplastic anemia varieties are not yet fully understood. It is already established that this disease damaged stem cells of bone marrow. This leads to systematic violation of hematopoiesis.
There are several theories of development of this disease. Many researchers say that the problem may lie in insufficient formation of stromal bed that serves as a basis for stem cells in the brain. Insufficiently bed allocates enough number of interleukins and specific growth factors that leads to the degradation of the bone marrow. This violation is detected in approximately 20% of cases of this disease.
Not without reason, and autoimmune theory of the development of the hematopoietic system diseases. In conducting studies biopsy is often found increased content of tumor necrosis factor, monocyte and T-killer cells. This indicates the inflammatory mechanism of occurrence of this disease.
At the same time there is a lack of carbohydrate on the surface of specific cells of the complex due to mutations in the gene responsible for its coding. This violation leads to the fact that the immune cells begin to recognize the bone marrow as foreign tissue and attack it. The larger the population of brain cells without the protein-carbohydrate complex on the surface, the more pronounced is the inflammatory response.
Kinds
Aplastic anemia is divided into: congenital and acquired. To congenital forms include:
- Fanconi anemia;
- Diamond Black fan-syndrome;
- Oestrich-Dameshek disease.
Hereditary variations pathology in the majority of cases occur in childhood. By common acquired form of the disease include:
- true anemia;
- partial aplasia;
- anemotrophy with hemolytic constituent.
This pathological condition may occur in acute, subacute and chronic form.
Symptoms and diagnostic measures
symptoms may be absent for a long time in aplastic anemia. Very often such a flow is observed in acquired forms of pathology. In this case, to identify the disease only allow specific blood tests. When unfavorable course debut pathology is acute. In the initial phase, the patient has the following symptoms of the disease:
- dizzy spells;
- noise in ears;
- pale skin and mucous membranes;
- dyspnea;
- tingling and pain in the chest.
As you reduce the number of blood cells observed increase in functional manifestations of hemorrhagic syndrome. On the skin appear petechiae. Frequent and heavy nosebleeds are. Increased bleeding gums. Often the disease is complicated by massive bleeding from the gastrointestinal tract. Often, the activation of infections observed in this stage of pathology. It occurs most often pneumonia and stomatitis. In addition, the increased risk of urinary tract infections and skin.
Patients lose weight rapidly. The liver and spleen increased in size. Picking malfunction of these organs. There may be swollen lymph nodes, and the appearance of pronounced edema.
In congenital Fanconi anemia clinical manifestations are increasing in children up to 10 years. In this disease the child lags behind in physical development and is characterized by short stature. upper limb malformations are frequently present. Often this form of anemia, and renal hypoplasia accompanied by the presence of abnormal pigmentation of the skin. Children with Fanconi disease is often detected an extreme degree of hearing loss.
If signs of anemia patient requires consultation hematologist. After examination of the patient, assessment of its existing complaints and family history is assigned a number of diagnostic tests:
- general and biochemical blood tests;
- biopsy;
- Sterile puncture;
- Ultrasound of the abdomen;
- MR.
In carrying out blood tests may reveal a reduced number of leukocytes, erythrocytes and platelets. These studies help to identify lymphocytosis and neutropenia. Moreover, the assays can detect abnormality in the liver, kidney and spleen. In a study of biopsy, obtained at biopsy determined reduction in megakaryocyte and bone marrow myelocytes. Biopsy reveals the presence of replacement fat red substance.
Treatment
When expressed aplastic anemia signs must be treated in a hospital. Patients require isolation and aseptic conditions. To stabilize the state of selected drugs that enhance hematopoietic function, immunosuppressive agents and antibiotics.
In addition, if necessary, prescribe medication, intended to eliminate the existing symptomatic manifestations. Drug therapy in most cases, gives the short-term effect. More effective therapies are transfusion procedures and bone marrow transplantation.
Transfusion
Treatment for aplastic anemia is often done substitution therapy procedures. First, the patient's blood is cleaned by means of plasmapheresis. Thereafter assigned transfusion of erythrocytes or platelets. Using the elements of blood can quickly stabilize the patient, but to cure the disease according to the procedures impossible.
Transplantation
Patients suffering from anemia, require transplantation. This is the only way to cure this disease. There are several variants of the stem cell transplant.
The most commonly used allogeneic procedure in clinical practice. It involves the bone marrow is collected from the donor, clean it and transplant recipient. This type of transplant is associated with the complexities of matching donor. Requires match at least 4 of the 6 antigens. Fence material requires the introduction of the donor general or epidural anesthesia, t. To. This procedure is painful. The material obtained after purification is administered intravenously to the recipient. After the procedure, patients should receive long-term immunosuppressive drugs that reduce the risk of rejection.
Now increasingly used method of allogeneic peripheral blood stem cells. The material for the transplantation of blood obtained by a special processing. If this method does not suffer from the bone marrow donor. Moreover, such a transplantation is associated with a lower risk of complications.
Also, autologous transplantation of umbilical cord blood can be carried out to eliminate the manifestations of anemia. This procedure is available in a number of maternity hospitals. Blood sampling is made from the umbilical cord at the moment of birth. Subsequently the resulting material is preserved and can be used if the person in the future become ill pathologies blood. Canteens cells derived from cord blood do not cause rejection. This technology has been widely used recently, so not all are able to use their blood obtained from the umbilical cord at birth.
Often used and autologous transplantation. It involves the use of a material that people put into a special bank storage, even before the onset of the disease. Transplantation is complicated by such rare graft rejection. The disadvantage of this option appears only transplant that not all have the opportunity to advance to pass the bone marrow of the deposit.
After a stem cell transplant patient should be kept in a sterile room, t. To. The first few weeks after the procedure the patient should take higher doses of immunosuppressive drugs. This reduces the risk of graft rejection, but increases the risk of sepsis, multiple organ failure and other negative consequences of the procedure. As engraftment material patient's condition stabilizes. On average, patients are in the hospital after the transplant from 2 to 4 weeks.
medicines
Treatment for aplastic anemia drugs can improve the general condition of the patient and to prepare it for subsequent more drastic therapies, including transplantation and transfusion blood components. Often in therapy scheme administered cytostatics and medicines, which have immunosuppressive effects. These groups of drugs used in cases of anemia include:
- Dexamethasone.
- Methylprednisolone.
- Cyclophosphamide.
- Cyclosporine A.
- 6-mercaptopurine.
- Azathioprine.
After the transplant immunosuppressants used in combination with immunosuppressants. In order to prevent the emergence of infectious complications are often prescribed antibiotics belonging to groups cephalosporins, azalides, macrolides hlorhinolonov etc. Often the treatment regimen are administered preparations BP correction. Furthermore, it may require the use of a medicament for stabilizing the intestine.
Splenectomy
Treatment for aplastic anemia other than a moderate course, often carried out by removal of the spleen. The positive effect of removing the spleen is achieved due to the fact that this body accumulates the maximum number of defective blood cells. Splenectomy allows to eliminate the maximum amount of cells with different pathological structure.
Surgical intervention is done through thoracicoabdominal access or by laparotomy. After ligation of the blood vessels cut through all the ligaments and the spikes that hold the spleen on its correct anatomical location, and then output the body into the wound opening. Thereafter, its removal. After this operation the patients recovered within 2-3 weeks.
