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Fanconi anemia | What you need to know

Fanconi anemia is a rare genetic disease that affects the bone marrow and other organs. Patients with Fanconi anemia have an increased risk of developing certain types of cancer and blood diseases.

  • 75% of children born with Fanconi anemia have abnormalities of physical development and internal organs.
  • Almost 90% of patients diagnosed with Fanconi anemia have bone marrow failure, resulting in the production of defective blood cells. They often develop aplastic anemia and myelodysplastic syndrome. Myelodysplastic syndrome is a pre-leukemic condition.
  • 10-30% of patients with Fanconi anemia develop leukemia at an earlier age than other people without Fanconi anemia.

Fanconi anemia itself is not a cancer, although a genetic mutation and the production of defective blood cells contribute to the development of a number of cancers. The incidence of Fanconi anemia is 1:160 people. It is diagnosed in childhood or early adolescence.

 

reason

Fanconi anemia is a genetic disease that develops as a result of inherited mutations in the FA genes. There are more than 20 FA genes, although not all of them necessarily have mutations. FA genes ensure the stability of DNA and its protection from mutations. When these genes are mutated, the proteins synthesized by them cannot recognize and correct DNA “errors”, which leads to:

  • Progression of DNA damage, followed by abnormal cell growth and death
  • Abnormalities in cell growth lead to abnormalities in physical development and reduced blood cell synthesis.
  • Abnormal cell growth leads to myeloid leukemia or other types of cancer.

 

Symptoms

The symptoms of Fanconi anemia are caused by disorders that develop in the body, including anemia, conditions caused by bone marrow failure (aplastic anemia), tumors, and physical developmental abnormalities.

Symptoms of anemia:

  • General weakness
  • Pale skin
  • Shortness of breath
  • Heart palpitations
  • headache

 

Symptoms of bone marrow failure

Often the symptoms are identical to those of anemia, however, the following also develop:

  • Bacterial and/or fungal infections – due to leukocyte deficiency
  • Bleeding tendency – due to damage or deficiency of platelets.

 

Tumors associated with Fanconi anemia Symptoms:

  • Myelodysplastic syndrome and acute myeloid leukemia: weakness, skin lesions and bleeding tendency, pale skin and anemia, shortness of breath, severe infections.
  • Squamous (flat) cell carcinoma: Rough growths or sores on the skin that are difficult to remove.

 

Physical abnormalities in Fanconi anemia:

Fanconi anemia causes physical and internal organ developmental abnormalities, such as:

  • Low altitude
  • Abnormal sizes and shapes of the auricles, limbs, wrists, and feet
  • Functional failure of internal organs – heart, lungs, kidneys.
  • Absence of thumbs, or two thumbs on one hand
  • Disproportionately small head size – microcephaly, which in turn leads to mental retardation.
  • Disproportionately large head – with the development of hydrocephalus. Such children often have problems with vision, hearing, balance, and learning.
  • Hearing loss or complete absence
  • Light brown, so-called “coffee with milk” spots on the skin
  • Spinal curvature and scoliosis

 

The FA gene is inherited in an autosomal recessive pattern, meaning that 25% of children of parents carrying the abnormal FA gene will develop symptoms of the disease, 25% will be completely healthy, and 50% will be carriers of the abnormal gene.

 

Diagnosis

Diagnosis of Fanconi anemia is made during the examination of concomitant pathologies: tumor, anemia, physical and other abnormalities.

  • Physical abnormalities: 60% of patients diagnosed with Fanconi anemia have deforming physical abnormalities of body parts and internal organs.
  • Progressive bone marrow failure: Half of children and adults with Fanconi anemia have signs of bone marrow failure.
  • Cancer: Acute myeloid leukemia or tumors of the head, neck, gastrointestinal, and genitourinary systems occur in 30% of patients with Fanconi anemia.

Diagnosis of Fanconi anemia and the conditions it causes is done through laboratory tests, such as:

  • General blood test
  • Reticulocyte count – quantitative determination of immature erythrocytes.
  • Bone marrow biopsy
  • Magnetic resonance imaging – for diagnosing pathologies of internal organs
  • Ultrasound – to assess the condition of internal organs and correlate symptoms.
  • Determination of basic biochemical parameters (electrolytes, liver functions, kidney functions, etc.).

 

After determining the underlying conditions, genetic analysis is required to diagnose Fanconi anemia.

  • Screening for carriers of specific genes to detect specific mutations.

 

Treatment and management

Typically, treatment of the disease involves correcting and managing the disorders that Fanconi anemia causes.

  • Bone marrow transplantation
  • Stimulation of erythrocyte production - with androgen therapy
  • Synthetic growth factors – to stimulate cell synthesis by the bone marrow
  • Surgical treatment – ​​to correct physical abnormalities and damaged organs.

 

Laboratory "Synevo" offers screening for genetic diseases:

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Source:

https://my.clevelandclinic.org/health/diseases/14473-fanconi-anemia-fa

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