Fanconi anemia is a genetic and hereditary disease, which is rare, and presents in children, with the appearance of congenital malformations, seen at birth, progressive bone marrow failure and predisposition to cancer, changes that are usually noticed between 3 and 12 years old.
Although it can present several signs and symptoms, such as changes in bones, skin spots, renal impairment, short stature and greater chances of developing tumors and leukemia, this disease is called anemia, because its main manifestation is the decrease in production of blood cells through the bone marrow.
To treat Fanconi's anemia, it is necessary to follow up with a hematologist, who advises blood transfusions or bone marrow transplants. Screening and precautions to prevent or detect cancer early are also very important.
Main symptoms
Some of the signs and symptoms of Fanconi anemia include:
- Anemia, low platelets and less white blood cells, which increase the risk of weakness, dizziness, pallor, purplish spots, bleeding and repeated infections; Bone deformities, such as absence of thumb, minor thumb or shortening of the arm, fine-tuned face with small mouth, small eyes and small chin; Short stature, since children are born with low weight and stature below the expected for their age; Coffee-with-milk colored patches on the skin; Increased risk of developing cancer, such as leukemia, myelodysplasia, skin cancer, cancer of the head and neck and genital and urological regions; Changes in vision and hearing.
These changes are caused by genetic defects, passed from parents to children, that 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 can vary from person to person.
How the diagnosis is made
The diagnosis of Fanconi's anemia is suspected through clinical observation and the signs and symptoms of the disease. The performance of blood tests such as blood count, in addition to imaging tests such as MRI, ultrasound and x-ray of the bones can be useful to identify the problems and deformities associated with the disease.
The diagnosis is confirmed mainly by a genetic test called Chromosomal Fragility Test, which is responsible for detecting breaks or mutations of DNA in blood cells.
How the treatment is done
The treatment for Fanconi's anemia is done with the guidance of the hematologist, who recommends blood transfusions and the use of corticosteroids to improve blood activity.
However, when the marrow goes bankrupt, it is only possible to cure it with a bone marrow transplant. If the person does not have a compatible donor to perform this transplant, a treatment with androgen hormones can be used to decrease the number of blood transfusions until the donor is found.
The person with this syndrome and his family must also have a follow-up and advice from a geneticist, who will advise on the exams and track other people who may have or pass this disease on to their children.
In addition, due to genetic instability and increased risk of cancer, it is very important that the person with this disease undergo regular screenings, and take some precautions such as:
- Do not smoke; Avoid drinking alcohol; Perform vaccination against HPV; Avoid exposing yourself to radiation such as x-rays; Avoid excessive exposure or without protection from the sun;
It is also important to go to consultations and follow up with other specialists who can detect possible changes, such as dentist, ENT, urologist, gynecologist or speech therapist.
