Fanconi Anemia - is a rare disorder in which there is a genetic defect that leads to fragility of chromosomes, that when they are damaged by not restoring the structure occurs... Without treatment, most of the patients by age 40 die because of complications, including common malignant tumor.
Causes and risk factors
The disease is inherited. Rare - an average of 350 thousand. babies 1 baby is born with Fanconi anemia; causes of disease are to a genetic mutation.
In most cases, the disease transmission occurs in an autosomal recessive inheritance type. Such a method implies that a child can get sick, only if both parents carry the gene mutation. In this case, the probability of occurrence of the disease in children - 1 to 4. Parents of a child at the same time can not be sick.
Much less a pathology caused by a mutation in a gene that is linked to the X chromosome. In this case, women do not get sick, but are carriers of the mutation; their children in half of the cases are congenital pathology.
The disease is genetic, so the likelihood of a diagnosis is not affected by external causes - in the environment do not have risk factors that can trigger a violation. The risk of problems increases with marriages between relatives.
Symptoms and Diagnosis
Most patients, about 60-70% have birth signs of the disease, which occur due to violations of fetal development. The presence of Fanconi anemia may indicate:
- short stature;
- small head;
- strabismus;
- lack of development of one eye or two;
- omission of the century;
- nystagmus;
- violation of the genitals;
- violation structure or kidney function;
- heart disease;
- the small size of the thumb on the hand or lack thereof;
- dislocation of the hip;
- presence of cervical rib;
- underdevelopment of the radius;
- clubfoot;
- underdevelopment of the jaw.
There may be irregularities in skin pigmentation - on the body are light or brown spots. Sometimes the disease is mentally retarded.
In other cases, symptoms appear as the disease progresses, because there are more irregularities in the functioning of the bone marrow. Most often, symptoms begin to appear in childhood, in the period from 5 to 10 years.
For patients characterized by excessive bleeding: you may notice bruises on the body, the blood does not clot for a long time when the skin is damaged, having nosebleeds.
The child may differ weakness and fatigue, to be subject to frequent infectious diseases. In rare cases, Fanconi anemia does not manifest itself and is not diagnosed until complications in the form of cancer.
For the diagnosis of the physician interrogates the patient and his family to find out whether this pathology occurred with relatives. Examines the patient to identify developmental disorders, which can be seen with the naked eye. From laboratory studies administered blood tests, genetic test cells and myelogram.
For patients with Fanconi anemia general blood analysis characterized by decreased number of red blood cells, leukocytes or platelets. When this failure may be present all types of blood cells, or only some of them. Cytogenetic study shows the presence of changes in chromosome structure. Molecular genetic analysis of cells can detect mutations in the genes that are responsible for the development of Fanconi anemia. Myelogram shows cell composition of the bone marrow.
Treatment
To maintain blood formation processes used hormone therapy. Assign receiving hematopoietic growth factors, immunosuppressive drugs and male sex hormones. Medicines help to maintain the patient's quality of life, but over time the effectiveness of treatment and reduced side effects appear. When canceling positive changes drugs disappear.
The most effective method of treatment - a bone marrow transplant. Best results occur when the operation in children (up to 10 years), and using as donor healthy siblings. In operation a greater risk of developing complications, since Fanconi anemia patients due to the fragility of chromosomes not tolerate the conditioning required for transplantation.
If there are contraindications, transfusions of blood components to medical therapy and bone marrow transplantation.
For injuries and wounds need to properly administer first aid to patients with anemia due to poor blood clotting.
prevention
Because of genetic factors in causing the disease can not be avoided by adhering to a healthy lifestyle and keeping a proper diet.
You can pre-identify the risk of disease in future offspring, having prenatal diagnosis. It is recommended to couples who are at risk. There are people who have encountered cases of the disease in the family, and those who are planning to have a child from a person to be held in relationship.
Possible complications and prognosis
How many will live patients with Fanconi anemia, depending on the degree of bone marrow. On average, men live to 30-40 years. The forecast is more favorable, if a child bone marrow transplant was performed.
When the disease is often complications arise: the accession of infections, increased bleeding. The presence of a genetic pathology contributes to the development of cancer, most commonly leukemia, which causes the death of most patients.
