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For the first time faced with the diagnosis of “Fanconi anemia”, any person will ask himself a completely logical question – what is it and how this pathology manifests itself. Fanconi anemia is a genetic disease that is very rare. In this case, a person suffers from circulatory disorders, which is expressed in a decrease in the number of all blood cells.
For the first time, the disease became known in 1927 thanks to the Swiss pediatrician Guido Fanconi. He described the case history of three boys from the same family who suffered from pancytopenia, and they also had certain abnormalities in physical development.
Fanconi anemia is rarely diagnosed, in about five out of 1 million people a year. Most often it affects the inhabitants of South Africa. The vast majority of patients are boys.
Causes of Fanconi anemia in children
The etiology of Fanconi anemia comes down to genetic abnormalities. This gene mutation is inherited in an autosomal recessive manner. If both parents are carriers of the mutated gene, then the probability of having a sick child in them is equal to 25%. In rare cases, Fanconi anemia can only be transmitted to boys from the mother.
Modern science knows 15 genes whose defects can lead to the development of the disease. One of them is located on the X chromosome, and the rest on autosomes. They code for proteins that are essential for DNA repair.
As a result, the following changes occur in the patient’s body:
The structure of stem cells is broken.
Chromosomes become brittle.
All three hematopoietic germs in the bone marrow suffer and are unable to perform their function.
Blood cells mature for a long time.
Adult erythrocytes die prematurely.
Symptoms of Fanconi anemia in children
For the first time, the disease manifests itself at the age of 4-10 years; at birth, Fanconi anemia is rarely diagnosed.
Its early symptoms include:
Bleeding that develops spontaneously.
The appearance of subcutaneous hematomas.
Pale skin, pale mucous membranes.
Increased fatigue, lethargy.
The child gets sick more often than his peers, as his immune system does not work at full strength. Perhaps the development of lymphadenopathy.
Most people with Fanconi anemia have birth defects. They are diagnosed in about 75% of patients.
They include:
Hyperpigmentation of the skin with characteristic bronze-brown spots and café-au-lait spots. Excessive deposition of melanin in the basal layer of the epidermis leads to a change in skin color.
Poor condition of teeth and nails.
Low rise.
Small head.
Clubfoot, congenital dislocation of the hip, absence of fingers on the hands, or their shortening, poor development of the radius, cervical rib.
Disorders in mental development.
Strabismus, ptosis.
Underdevelopment of the eyes (one or two).
Deafness.
Genital hypoplasia, monorchism, abnormal location of the urethra.
Pathologies of kidney development: the presence of two pelvises or ureters, underdevelopment of organs, the formation of a kidney in the form of a horseshoe, the presence of cysts in the kidneys.
Heart defects.
The listed developmental disorders may not always be present and not in full, even if members of the same family suffer from Fanconi anemia. The older a person becomes, the more hematopoietic functions of the bone marrow are disturbed.
In the period from 15 to 25 years, patients remain at a high risk of developing cancer pathologies:
Leukemia.
Tongue carcinoma.
Tumors of the esophagus.
Tumors of the liver.
Diagnostics
Diagnosis of Fanconi anemia is within the competence of specialists. You can’t make a diagnosis on your own. The disease can occur in people who do not have congenital malformations and appear only in adulthood. Therefore, in addition to external symptoms, a family history should be carefully studied.
Conducting a general blood test in the early stages of the development of the disease will give a picture of thrombocytopenia and leukopenia. As the pathology progresses, the level of fetal hemoglobin increases against the background of a decrease in all blood cells (pancytopenia).
To confirm the diagnosis, a test with diepoxybutane or mitomycin C is performed. The effect of accumulation of peripheral blood mononuclear cells in the G2 / M phase is also detected. To confirm the pathology allows the establishment of mutated genes.
Examination of patients involves the performance of a myelogram (the study of bone marrow cells using a puncture).
Treatment
Treatment of Fanconi anemia is based on stem cell transplantation, androgen administration and replacement therapy.
If the level of ferritin in the blood exceeds 1000 ng / ml, then chelation therapy is carried out. With a decrease in the number of neutrophils less than 500 cells / ml, androgens (oxymetalone, methandrostenolone) and hematopoietic growth factors are prescribed. The effect of the ongoing treatment can be noticed no earlier than a month from its start. Severe hypoxia requires transfusion of platelet and/or erythrocyte mass. In some cases, the spleen is removed.
If the child has not undergone bone marrow transplantation, then he is vaccinated with non-live vaccines, and the Mantoux test is also performed.
The presence of malignant neoplasms complicates the course of the disease. This makes therapy difficult and often ineffective, especially when radiotherapy is required. The cells of the patient are characterized by increased sensitivity to such exposure, which leads to high toxicity and the likelihood of death.
The average life expectancy for people with Fanconi anemia is 30 years, although it all depends on how deeply the bone marrow is damaged.
The patient must be registered with a hematologist, which allows monitoring his health, early detection and treatment of cancerous growths, hemorrhagic complications and infections.
General principles for the management of patients with Fanconi anemia:
Gentle lifestyle.
Avoid contact with carcinogens, such as hair dye, organic solvents, etc.
Hypothermia protection.
Timely treatment of viral and bacterial infections.
Quality food.
Once a year, the patient should be examined by narrow specialists (cardiologist, nephrologist, ophthalmologist, etc.). You will need to visit a hematologist once every 1-1 months or even more often.
A myelogram is performed once a year, and an ultrasound of the internal organs is performed once every six months.
In some cases, children are transferred to home schooling, they are limited in physical activity.
A child with Fanconi anemia is recognized as a disabled child. As an adult, a person must pass the MREC to obtain a disability.
The only method that makes it possible to get rid of Fanconi anemia is a bone marrow transplant. However, this procedure is associated with a number of difficulties. It is quite difficult to find a donor, the ideal carrier of bone marrow for transplantation is an identical twin. A transplant requires radiation or chemotherapy, which can lead to serious complications, even death.
Measures to prevent Fanconi anemia are reduced to performing genetic studies at the stage of pregnancy planning.
Without treatment, 80% of patients die 2 years after diagnosis. After 4 years, this figure is equal to 100%. Therefore, the therapy of children with Fanconi anemia is a vital necessity.