Fanconi anemia is a rare genetic disease that causes congenital malformations, progressive bone marrow failure and predisposition to cancer.
Although it can present various signs and symptoms, such as changes in the bones, spots on the skin, kidney damage and short stature, this disease is called anemia, as its main manifestation is the decrease in the production of blood cells by the bone marrow.
To treat Fanconi anemia, it is necessary to consult a hematologist, who will advise blood transfusions or bone marrow transplants, as necessary. It is also very important to undergo regular screening to detect the emergence of some type of cancer early.
Symptoms and characteristics
Some of the symptoms and characteristics of Fanconi anemia are:
- Anemialow platelets and fewer white blood cells, which increase the risk of weakness, dizziness, paleness, purple spots, bleeding and repeated infections;
- Bone deformitiessuch as absence of thumb, smaller thumb or shortened arm, microcephaly, thin face with small mouth, small eyes and small chin;
- Shortas children are born with low weight and height below expectations for their age;
- Spots on the skin coffee-with-milk color;
- Increased risk of developing cancersuch as leukemia, head and neck cancer, myelodysplasia, skin cancer, cancer of the genital and urological regions;
- Changes in vision and hearing.
These changes are caused by genetic defects, passed from parents to children, which affect these parts of the body. Some signs and symptoms may be more intense in some people than in others, as the intensity and exact location of the genetic change may vary from person to person.
How to confirm the diagnosis
The diagnosis of Fanconi anemia is suspected through clinical observation and the signs and symptoms of the disease. Carrying out blood tests such as blood counts, as well as imaging tests such as MRI, ultrasound and bone X-rays can be useful in identifying problems and deformities associated with the disease.
Confirmation of the diagnosis is mainly done through a genetic test called Chromosome Fragility Test, which is responsible for detecting DNA breaks or mutations in blood cells.
How the treatment is carried out
Treatment for Fanconi anemia is carried out under the guidance of a hematologist, who recommends blood transfusions and the use of corticosteroids to improve blood activity.
However, when the marrow fails, it is only possible to cure it with a bone marrow transplant. If the person does not have a compatible donor to carry out this transplant, treatment with androgen hormones can be used to reduce the number of blood transfusions until the donor is found.
The person with this syndrome and their family must also receive monitoring and advice from a geneticist, who will advise on tests and track other people who may have or pass on this disease to their children.
Furthermore, due to genetic instability and increased risk of cancer, it is very important that people with this disease undergo periodic screenings and take certain precautions such as:
- Do not smoke;
- Avoid the consumption of alcoholic beverages;
- Perform vaccination against HPV;
- Avoid exposing yourself to radiation such as X-rays;
- Avoid excessive or unprotected exposure to the sun;
It is also important to go to consultations and follow up with other specialists who can detect possible changes, such as a dentist, ENT, urologist, gynecologist or speech therapist.
Bibliography
- ZEN, Paulo Ricardo G. et al.. Clinical characteristics of patients with Fanconi anemia. Rev Paul Pediatr 2011;29(3):392-9.
- LORAINE BEATRIZ ACOSTA VEIGA. FANCONI ANEMIA: CYTOGENETIC ANALYSIS. Doctoral Thesis in Biological Sciences in the area of Genetics, 2009. UNIVERSIDADE FEDERAL DO PARANÁ.LAUDIA ESTELA GONÇALVES. MOLECULAR STUDY OF THE FANCA GENE IN PATIENTS WITH CLINICAL FANCONI ANEMIA. Doctoral Thesis in Clinical Medicine, 2014. UNICAMP.
