Fanconi anemia: what it is, symptoms, causes and treatment

Fanconi anemia is a rare genetic disease that affects the production of blood cells in the bone marrow, causing symptoms such as spots on the skin, scoliosis, short stature, and congenital malformations, such as abnormal thumbs and changes in the bones, kidneys or heart, for example.

This disease causes progressive bone marrow failure and a decrease or interruption in the production of blood cells, leading to the development of aplastic anemia, in addition to increasing the risk of developing cancer, such as leukemia.

Also read: Aplastic anemia: what it is, symptoms, causes and treatment

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Treatment of Fanconi anemia is carried out by a hematologist and usually involves 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 of Fanconi anemia

The main symptoms of Fanconi anemia are:

• Low birth weight and height below expectations for age;
• Coffee-with-milk spots on the skin;
• Absent, short or double thumb;
• Short arm, club foot or hip dislocation;
• Microcephaly or hydrocephalus;
• Small mouth, chin and eyes.

Other physical characteristics of Fanconi anemia are changes in the ears or eyes, for example.

In addition, the child may have hypogonadism and changes in the development of the genitals, which include absent or undescended testicles after birth, phimosis, abnormal opening of the urethra, micropenis or absent or closed vaginal canal.

Due to the reduction in the levels of red blood cells, leukocytes and platelets in the blood, symptoms such as easy or uncontrollable bleeding, purple marks on the skin for no apparent reason, weakness, dizziness, paleness or frequent infections may also appear.

How to confirm the diagnosis

The diagnosis of Fanconi anemia is suspected by the pediatrician through evaluation of the symptoms, physical characteristics of the child, health history, family history of Fanconi anemia and physical examination.

Make an appointment with the pediatrician in the region closest to you:

Carrying out blood tests such as complete blood count, myelogram and bone marrow biopsy, as well as imaging tests such as ultrasound, 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 the Chromosome Fragility Test, which is responsible for detecting DNA breaks or mutations in blood cells, and the treatment carried out by the hematologist.

Possible causes

Fanconi anemia is caused by genetic mutations in the FA genes, which are responsible for repairing DNA damage, resulting in DNA breakage or instability, which leads to abnormal cell growth, causing cancer, or death of blood cells.

Most often, Fanconi anemia is hereditary, that is, inherited in an autosomal recessive manner from defective genes from the father and mother. This means that for a child to be born with the disease, both the father and mother must be carriers of the gene mutation.

Furthermore, although it is less common, Fanconi anemia can also be related to an abnormal gene on the X chromosome, and the disease manifests itself in male children, and girls are only carriers of the altered gene, not presenting the disease.

Fanconi anemia can also be autosomal dominant, meaning that it can be located in any gene other than X or Y, and that only one altered copy of the gene can cause the disease. In these cases, a mutation of the RAD51 gene occurs, and the chances of one of the parents passing the altered gene to their child is 50%.

How the treatment is carried out

The treatment of Fanconi anemia must be carried out under the guidance of a hematologist, who may recommend blood transfusions of red blood cells or platelets, or the use of filgrastim, which is a medicine that helps increase neutrophils in the blood, preventing infections.

Another treatment that may be recommended by the doctor is androgenic therapy, such as oxymetholone, danazol or oxandrolone, especially in cases of anemia, as they help to stimulate the production of red blood cells. Check out the complete list of anemia medications.

However, when the bone marrow fails and stops producing blood cells, it is only possible to cure it with a bone marrow transplant. See how a bone marrow transplant is performed.

Surgeries may also be recommended by the doctor to correct changes or deformities in bones or other organs.

Care during treatment

It is very important that people with Fanconi anemia take certain precautions, such as:

• Carry out periodic screenings for early detection of cancer;
• 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.

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.

Fanconi anemia life expectancy

Fanconi anemia is most often diagnosed around 7 years of age, and life expectancy varies from 20 to 30 years.

The sooner the disease is diagnosed and the medical monitoring and treatment carried out, the longer the life expectancy may be, which varies from case to case.

Possible complications

The main complications of Fanconi anemia are pancytopenia, aplastic anemia, myelodysplastic syndrome, or the development of blood cancer such as acute myeloid leukemia (AML).

Also read: Pancytopenia: what it is, symptoms, causes and treatment

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In addition, this disease also increases the risk of other types of tumor, such as skin cancer, head and neck cancer, esophageal cancer, gastrointestinal cancer or cancer of the anus, vulva or cervix, for example.

Fanconi anemia can also cause endocrine problems such as hypothyroidism, glucose intolerance, increased LDL bad cholesterol and triglycerides, low HDL good cholesterol, or infertility due to hypogonadism.