Fanconi anemia is a congenital disease characterized by damage to the bone marrow. Damage to the bone marrow interferes with the production of blood cells, leading to a serious condition such as leukemia. Fanconi's anemia is associated with disorders of other organs and tissues, such as an increased risk of cancer. The incidence of the disease is the same in men and women.
Method 1 of 3: Symptoms of Disease
Step 1. Birth defects
75% of children with Fanconi anemia have at least one birth defect or pathology. Birth defects are very important for the clinical diagnosis of Fanconi anemia.
- The most common defects are skin pigmentation, bone and joint defects, ear and eye defects, genital defects, kidney defects, and heart defects.
- As well as other defects described below.
Step 2. Identification of areas of skin pigmentation
Often, coffee-colored stains are found on the skin, known as “cappuccino” stains. There may also be areas of light skin (hypopigmentation).
Step 3. Pay attention to the defects of the skeletal system
There are a large number of AF related bone abnormalities. The thumb may be misshapen or missing. The hands, forearms, thighs, and legs can be shortened or curved. Some children may have 6 fingers. The arms and legs may have abnormal amounts of bones.
Step 4. Pay attention to the abnormalities of the face and skull
Facial and skull abnormalities include a small or large head, a small lower jaw, a bird's face, a sloping or convex forehead, etc. Some children may have low hair growth and skin folds in the neck.
Step 5. Pay attention to the defects of the spine
Spine defects include a curved spine, i.e. scoliosis, costal and vertebral anomalies, additional ribs.
AF can be associated with spina bifida - spina bifida, in which the spinal canal does not become clogged with dysfunction of the spinal cord
Step 6. Pay attention to genital defects
In boys, genital defects include genital lag, small penis, undescended testes, urethra on the underside of the penis, phimosis (a large amount of foreskin that prevents the head from opening), small testicles, and decreased spermatogenesis leading to infertility.
In girls, genital defects include an absent, narrow or rudimentary vagina or uterus, and ovarian atrophy
Step 7. There may be deformation of the eyes, eyelids and ears
As a result of these defects, vision and hearing problems can appear.
Step 8. Remember that AF can show defects in vital organs
AF is very often accompanied by kidney or heart defects.
- Kidney defects include missing or abnormal kidney shapes.
- Most often, AF is accompanied by heart defects, for example, a defect of the mesoventricular septum (VSD), i.e. the presence of abnormal communication between the chambers of the ventricles.
Step 9. Be aware of your child's developmental disabilities
Any anemia leads to a deficiency of oxygen in various tissues, which leads to a decrease in the utilization of nutrients necessary for growth and development.
- These babies may have low birth weight due to inadequate intrauterine nutrition.
- Children grow up lagging behind their peers. Outwardly, such children are shorter and thinner than those around them.
- Decreased brain development can lead to low IQ or learning disabilities.
Step 10. Watch for symptoms of anemia
Due to damage to the bone marrow, the production of all types of blood cells (erythrocytes, leukocytes and platelets) is impaired. Anemia is a condition characterized by a decrease in the number of red blood cells. The skin turns pale due to anemia, as it is the red blood cells that color the skin pink.
- Fatigue is the main symptom of anemia. It appears due to a reduced supply of oxygen to the tissues, which means that it leads to a decrease in the oxidation of nutrients and energy starvation of cells.
- Anemia results in increased cardiac output in an attempt to compensate for tissue oxygen deprivation. This fatigues the heart and can lead to heart failure. With the development of heart failure, a cough with foamy sputum, shortness of breath, especially when lying down, swelling of the limbs, etc. appear.
- Other symptoms of anemia include dizziness, headache (due to oxygen deficiency in the brain), cold and clammy skin, etc.
Step 11. Symptoms of a decrease in the number of leukocytes
Leukocytes or white blood cells are cells that protect the body from various infections.
- If the bone marrow is damaged, the number of leukocytes decreases and the protection against infections decreases. Therefore, various infections develop faster than in a healthy person.
- Infections usually last longer and respond poorly to treatment. Patients with Fanconi anemia may develop secondary infections with a fatal outcome.
Step 12. Watch for symptoms of decreased platelets
Platelets are blood cells that are involved in stopping bleeding. With a platelet deficiency, small cuts and wounds can bleed for a long time.
- Petechiae are easily formed in patients with AF. Petechiae are small red or purple spots on the skin due to bleeding from small vessels in the skin. In most people with Fanconi anemia, the doctor can detect skin hemorrhages.
- With a critical platelet count, bleeding can spontaneously occur from the nose, gums, gastrointestinal tract, or into the joints. This is a serious condition that needs immediate medical attention.
Step 13. Development of complications
Fanconi anemia is associated with abnormalities in genes (genes are located on chromosomes and are responsible for individual characteristics and traits of a person). Therefore, the normal growth and differentiation of organ tissues is disrupted. The disease can manifest itself as such a complication, and not anemia or bone marrow failure.
- Abnormal or immature blood cells produced by the bone marrow can lead to leukemia or myelodysplastic syndrome. About 10% of patients with Fanconi anemia develop leukemia, which manifests as acute myeloid leukemia. In leukemia, abnormal or immature blast cells in the bone marrow reach 30%. Myelodysplastic syndrome is a milder form, when the number of blast cells in the bone marrow is from 5% to 20%.
- Fanconi's anemia can be accompanied by solid tumors. The most common tumors can form in the liver, oropharynx, esophagus, vulva, vagina, brain, skin, cervix, mammary gland, kidneys, lungs, lymph nodes, stomach, and intestines. The prognosis for such patients is poor, since chemotherapy is poorly tolerated in such patients.
Method 2 of 3: Diagnostics
Step 1. Get a complete blood count (CBC)
The first step in the diagnosis of AF is the establishment of aplastic anemia, that is, a decrease in the number of all blood cells. This analysis also evaluates the number, size and shape of red blood cells.
- With Fanconi anemia, the erythrocyte count is significantly reduced (at a rate of 4, 3-5, 9 million / mm3 in men and 3.5-5.5 million / mm3 in women), the size usually increases (the norm is 78-98 fL) and abnormal cell shapes.
- The number of leukocytes and platelets is reduced. This condition is called pancytopenia.
Step 2. Determine the number of reticulocytes
Reticulocytes are the precursors of red blood cells. Their amount in the blood to some extent shows the effectiveness of the bone marrow.
Normally, the number of reticulocytes is 0.5-1.5% of the number of erythrocytes, with aplastic anemia this number decreases (to about 0)
Step 3. Get a bone marrow puncture
Bone marrow activity can be directly assessed using these tests. At body temperature, the bone marrow is a liquid.
- For bone marrow puncture, a thick and wide metal needle is inserted into the bone after local anesthesia (anesthesia is usually used in children).
- The procedure is very painful because the bone contains a large number of nerve endings, and the anesthetic cannot penetrate into the bone. Usually, the bones of the lower leg, the upper part of the sternum, or the upper edge of the pelvic bone are selected for puncture.
- After inserting the needle to a certain depth, the piston is pulled back. The yellow liquid enters the syringe. The fluid is analyzed for the number of blood cells. The pain disappears immediately after removing the needle.
Step 4. Bone marrow biopsy
Sometimes bone marrow becomes hard and fibrous after prolonged inactivity. In such cases, during the puncture, nothing comes into the needle. A bone marrow biopsy establishes a more accurate condition.
- A small piece of bone marrow tissue is taken through a wide opening. The procedure is similar to a bone marrow puncture, but the hole is wider due to the incision through the needle.
- A piece of fabric is placed in the needle. The needle is removed from the bone and a piece of tissue is sent to the laboratory.
- Microscopic examination of the bone marrow provides information on the percentage of immature and defective cells. This study concludes whether there is excess blast cells associated with leukemia and myelodysplastic syndrome.
Step 5. Let your doctor perform a chromosome stability analysis
This is the final test for diagnosing Fanconi anemia. With the development of aplastic anemia and other clinical features of Fanconi anemia, the doctor may prescribe this analysis.
- Chromosomal resistance analysis is complex and is performed at several centers. For analysis, a blood sample (from a vein in the arm) or skin is taken and treated with special chemicals such as diepoxybutane or mitomycin C.
- The cells are examined under a microscope for chromosomal breaks. In Fanconi anemia, chromosomes are destroyed more strongly than in a healthy person.
Step 6. Run flow cytometric analysis
This test produces a sample of skin cells that is cultured in nitrogen mustard gas or other chemicals. Culturing is a method in which cells can multiply in vitro.
Cells in patients with Fanconi anemia stop at the G2 / M division phase (different phases of cell division)
Step 7. Get diagnosed before the baby is born
If one or both parents or relatives have Fanconi anemia, the baby should be examined before birth. The child is examined by examining tissue samples from the placenta.
- Amniocentesis is a procedure in which a small amount of fluid around the baby is collected in a syringe under ultrasound guidance. Cells from the amyotic fluid are harvested and analyzed for the Fanconi gene for anemia. This test can be done from 14 to 18 weeks of gestation.
- Chorionic biopsy is another procedure designed for early diagnosis (from 10-12 weeks of pregnancy). In this procedure, a needle is inserted through the vagina and cervix to the placenta. Chorionic tissue sample is obtained by aspiration. Chorionic cells are analyzed for genetic mutations.
Method 3 of 3: What Fanconi Anemia Is
Step 1. Anemia
Anemia is a condition in which the quantitative or qualitative level of hemoglobin or red blood cells decreases. Red blood cells are cells that carry oxygen from the lungs to all organs and tissues of the body and carry carbon dioxide from the tissues to the lungs.
- Erythrocytes, along with leukocytes and platelets, are produced by the bone marrow - this is the spongy tissue in the tubular bones, ribs, skull and vertebrae.
- Anemia has a wide variety of causes. Aplastic anemia is one of the types of anemias, when all blood cells decrease due to bone marrow failure. There are many reasons for the development of aplastic anemia, for example, radiation, chemical, drug damage, hereditary diseases, etc.
Step 2. With Fanconi's anemia, aplastic anemia occurs
It is a hereditary blood disease, i.e. the child has this disease from birth. The disease is transmitted in an autosomal recessive manner.
- Simply put, both parents must be carriers of the disease gene. The carrier of the disease gene implies the presence of the gene, but the absence of manifestations of the disease.
- In Fanconi anemia, the bone marrow does not produce the required number of new blood cells. Defective blood cells can be produced, leading to the development of leukemia or blood cancer.
Step 3. Patients with AF have a high risk of developing leukemia and tumors
One in ten people with Fanconi's anemia will develop leukemia. There is a high risk of developing solid tumors of the mouth, tongue, pharynx, female genital organs, etc.
Step 4. Remember that AF diagnostics is difficult
Since there are many reasons for anemia, it is difficult to suspect AF. And although blood disease is primary, most organs of the body are affected.
- Thus, birth defects are very important for the diagnosis of Fanconi anemia. Birth defects are observed in 75% of children with AF.
- The remaining 25% of AF patients are diagnosed by chromosomal analysis in cases of bone marrow failure (usually at the age of 2-13 years).
- In addition, a carefully collected history, examination and tests are the basis for staging this rare blood disease.