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This article was co-written by Chris M. Matsko, MD. Dr. Matsko is a retired physician with offices in Pittsburgh, Pennsylvania. He was awarded the University of Pittsburgh Cornell’s Distinguished Leadership Award. He received his PhD from Temple University School of Medicine in 2007. He holds a Research Diploma from AMWA in 2016 and a Medical Content Writing & Editorial Certificate from the University of Chicago in 2017.
This article has been viewed 3,575 times.
Fanconi anemia is an inherited disease caused by damage to the bone marrow – the soft tissue inside the bones that produces blood cells. This damage affects the production of blood cells and causes many serious health problems such as leukemia (a type of blood cancer). Although Fanconi anemia is a blood-related disorder, it also affects other organs, tissues, and organ systems in the body, increasing the risk of developing cancer. It is usually diagnosed before the age of 12 but can also be detected during pregnancy and even before birth.
Steps
Recognizing signs before or during birth
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Find out genetic history in the family. Fanconi anemia is an inherited disease, so if someone in your family has a history of anemia, you may carry the gene and get the disease. People with Fanconi anemia are caused by carrying a recessive gene, meaning that both parents have to carry the gene and pass it on to their children. Because the disease is recessive, both parents can carry the gene without getting sick.
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Receive genetic testing. If you’re not sure if you carry the Fanconi anemia gene, you can ask a geneticist to run a variety of tests. If neither parent is a carrier, the child cannot carry the Fanconi anemia gene. However, if both parents carry the gene, only a quarter of the child will develop Fanconi anemia. [1] X Trusted Source National Heart, Lung, and Blood Institute Go to Source
- The most common test is a genetic mutation test. The geneticist will take a sample of the skin and look for the mutation (abnormal change in the gene) that is associated with Fanconi anemia.
- A chromosome disruption test is a procedure where blood samples are taken from the arm and special chemicals are used to treat the cells. The cells are then observed to see if they break down. If you have Fanconi anemia, chromosomes break down and rearrange more easily than usual. This test is the only way to determine if you carry the Fanconi anemia gene. This is a complicated test and only some centers can do it. [2] X Research Source
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Genetic testing in the fetus. There are two tests for a developing fetus: a placental biopsy (CVS) test and amniocentesis. Both of these tests are done in a hospital. [3] X Trusted Source National Heart, Lung, and Blood Institute Go to Source
- Placental biopsy is done 10-12 weeks after a woman’s last menstrual period. The doctor will insert a thin tube through the vagina and cervix to the placenta. The doctor will then gently aspirate tissue samples from the placenta and conduct laboratory tests to detect genetic defects.
- Amniocentesis is performed 15-18 weeks after a woman’s last menstrual period. The doctor uses a needle to remove a small amount of fluid from the sacs around the fetus. The technician will then test the chromosomes from the liquid sample to see if the defective gene is present.
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Recognize symptoms of Fanconi anemia. After your baby is born, you need to be checked for physical defects that could be a sign of Fanconi anemia. Some defects you can check on your own, while others will require a visit to a doctor. [4] X Trusted Source National Heart, Lung, and Blood Institute Go to Source
- Fanconi anemia causes loss of thumb, deformed thumb, or more than 3 thumbs. The bones of the arms, hips, legs, hands, and toes are incompletely or abnormally formed. Children with Fanconi anemia may have scoliosis or a curved spine.
- Eyes, eyelids, and ears may also be deformed. Children with Fanconi anemia may be deaf.
- About 75% of patients with Fanconi anemia carry at least one birth defect.
- Young children with Fanconi anemia may have kidney defects or malformed kidneys.
- Fanconi anemia can cause congenital heart defects. The most common is a ventricular septal defect (interventricular septum defect), which is the presence of a hole or defect in the lower septum that separates the left and right ventricles.
Recognize signs of illness in childhood or later
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Look for patches of skin pigmentation. The patient will notice flat, light brown patches of skin known as “café au lait” (in French for “coffee with milk”). Or the patient’s skin may appear lighter in color (depigmentation).
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Observe for abnormalities in the head and face. These abnormalities may include small or large head, small lower jaw, small face (bird-like appearance), sloping or protruding forehead, etc. Some patients also have low hairline and webbed neck.
- The patient’s eyes, eyelids and ears may be deformed. These disabilities can cause people with Fanconi anemia to have vision and hearing problems.
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Observe for bone defects. The thumb may be lost or deformed. Arms, forearms, thighs, and legs may be short, curved, or deformed. The hands and feet may have an abnormal number of bones and in some cases may have six fingers.
- The spine and vertebrae are common sites of bone defects. Disability can be curvature of the spine (scoliosis), abnormal ribs and spine, extra vertebrae.
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Identify genital defects in both men and women. Since men and women have different reproductive systems, you need to be aware of the different signs.
- Genital defects in men include underdevelopment of all sex organs, small penis, undescended testicles, open urethra on the underside of the penis, narrowing of the foreskin (tension) abnormality of the foreskin, preventing retraction of the glans), small testicles, decreased sperm production leading to infertility.
- Female genital defects include absence of a vagina or uterus, very narrow or undeveloped vagina or uterus, and shrinking of the ovaries.
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Be aware of other abnormalities in development. Babies can be born with low birth weight due to lack of nutrition from the mother’s womb. The child may not grow at a normal rate, is shorter or smaller than other children his or her age. Any form of anemia leads to inadequate oxygen delivery to various tissues, so the patient is often malnourished. The brain is also underdeveloped, for example low IQ or learning difficulties.
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Watch out for the basic signs of anemia. Fanconi anemia is a type of anemia that has the same symptoms as many other diseases. People with these conditions are not necessarily due to Fanconi anemia, but it can also be one of the causes.
- Fatigue is the main symptom of anemia. The patient feels fatigued because the oxygen supply (needed to burn nutrients in the cells and produce energy) is reduced.
- Anemia is also associated with low red blood cells (RBC). The patient’s skin may become pale because the RBC is responsible for the red color in the blood, which in turn gives the skin its pink color.
- Anemia causes an increase in the supply from the heart, or an increase in blood supply to other tissues to compensate for the lack of oxygen. This can make the heart tired and lead to heart failure. With heart failure, children often cough up foamy sputum, shortness of breath (especially when lying down), or swelling of the body.
- Other symptoms of anemia include dizziness, headache (due to lack of oxygen to the brain), cold and flaccid skin.
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Identify signs of leukopenia. White blood cells (WBCs) make up the body’s natural defense system against many infections. When the bone marrow is defective, the number of white blood cells produced is reduced and the body’s natural protective wall is lost. Children will be susceptible to infectious diseases caused by organisms that the normal human body can resist. Infection is usually longer and more difficult to treat.
- Children diagnosed with cancer at an early age should be screened for Fanconi anemia.
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Watch out for signs of thrombocytopenia. Platelets are needed for blood clotting. If there is a lack of platelets, small cuts and wounds will bleed longer. Young children also bruise easily or develop petechiae on their skin. Small red or purple spots on the skin are caused by bleeding from small blood vessels under the skin. [5] X Trusted Source National Heart, Lung, and Blood Institute Go to Source
- If the platelets drop significantly, blood may drain on its own from the nose, mouth, or digestive tract and into the joints. This is a serious problem and requires urgent medical attention.
Receiving diagnosis
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Talk to your doctor. These signs are just symptoms that indicate that you may have Fanconi anemia. The doctor is the only one capable of conducting the test to confirm the diagnosis. Before the test, you need to tell your doctor about all medical conditions (if any) that may affect the test. Information on family history, medication use, recent blood transfusions (if any) and other medical conditions should be provided.
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Receiving tests for non-reproducible anemia. Fanconi anemia is a type of non-regenerative anemia, in which the bone marrow is damaged and does not produce enough blood cells. For the test, your doctor will use a needle to take a blood sample from your arm. The blood sample will be analyzed under a microscope for a complete blood count (CBC) or reticulocyte count.
- In a CBC test, a blood sample is smeared on a slide and examined under a microscope. The doctor will then calculate a cell count to make sure there are enough red blood cells, white blood cells, and platelets. To identify non-regenerative anemia, your doctor will look at your red blood cells to see if their cell count has decreased significantly, if they have increased in size, and if there are many abnormally shaped cells.
- In a reticulocyte count, the doctor looks at the blood sample with a microscope and counts the number of reticulocytes. These are the direct precursors of red blood cells. The percentage of reticulocytes in the blood shows how efficiently the bone marrow produces blood cells. If the patient has non-regenerative anemia, the percentage is greatly reduced, close to zero.
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Accept flow cytometry assays. The doctor will take a few cells from the skin and culture them in a chemical medium. If you carry the Fanconi anemia gene, the cell sample will stop growing at an abnormal stage that can be seen by the examiner.
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Receive bone marrow examination. In this test, some bone marrow is aspirated for direct testing. After applying a local anesthetic, your doctor inserts a thick, wide metal needle into a bone, usually the shinbone, upper breastbone, or pelvis.
- If the patient is a small child or the patient is difficult to control, the doctor may put the patient to sleep and perform a bone marrow aspiration.
- Even with anesthesia, the patient will still feel quite a bit of pain. There are so many nerves inside the bone that a local anesthetic cannot be injected with a regular needle.
- After inserting the needle to a certain depth, the doctor will attach the syringe to the needle and gently pull the plunger out. The extracted yellow fluid is bone marrow. The yellow fluid will be tested to see if enough blood cells are being produced. The pain usually goes away soon after the needle is removed.
- Occasionally, the pulp can become solid and fibrous due to prolonged inactivity. In that case, the yellow fluid will not be aspirated and is called a “dry tap”.
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Receive a bone marrow biopsy. In the case of a “dry tap”, your doctor will recommend a bone marrow biopsy to check the exact condition of the marrow. This procedure is similar to a myelogram, but uses a larger needle and cuts out a piece of bone marrow tissue. The bone marrow tissue will be viewed with a microscope to check for the percentage of damaged cells.
Warning
- Do not confuse Fanconi anemia with Fanconi Syndrome, a kidney disorder.
- Be aware that Fanconi anemia can be very difficult to diagnose. Because there are many other possible causes of anemia, the diagnosis of Fanconi anemia is often difficult. Although it is a blood cell disease, it also affects many other organs in the body and can cause more prominent symptoms.
- Fanconi anemia is associated with many other conditions and diseases. If you are diagnosed with Fanconi anemia, you may have many other conditions, such as leukemia, other cancers, kidney disease, and heart defects.
- A bone marrow transplant can help treat Fanconi anemia. This is a common treatment for non-regenerative anemia. However, the process of preparing a patient with Fanconi anemia will be different from that of other non-regenerative anemias. Patients with Fanconi anemia need to receive chemotherapy and radiation differently than patients with other non-regenerative anemias. Therefore, this method of treatment should be applied with caution.
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This article was co-written by Chris M. Matsko, MD. Dr. Matsko is a retired physician with offices in Pittsburgh, Pennsylvania. He was awarded the University of Pittsburgh Cornell’s Distinguished Leadership Award. He received his PhD from Temple University School of Medicine in 2007. He holds a Research Diploma from AMWA in 2016 and a Medical Content Writing & Editorial Certificate from the University of Chicago in 2017.
This article has been viewed 3,575 times.
Fanconi anemia is an inherited disease caused by damage to the bone marrow – the soft tissue inside the bones that produces blood cells. This damage affects the production of blood cells and causes many serious health problems such as leukemia (a type of blood cancer). Although Fanconi anemia is a blood-related disorder, it also affects other organs, tissues, and organ systems in the body, increasing the risk of developing cancer. It is usually diagnosed before the age of 12 but can also be detected during pregnancy and even before birth.
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