Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentPrognosis
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Fanconi anemia(FA) is a rare genetic disease, affecting 1 in 160,000 people. The condition leads to gradual bone marrow failure in about 90% of people affected.Bone marrowis the spongy material inside the bones that makes platelets, red blood cells, and white blood cells. These cells are important to good health.
Fanconi anemia is a condition that affects many parts of the body, often causing physical abnormalities, like malformed thumbs or forearms, and organ defects, such as absent kidneys and heart defects. It also increases the chance of getting some cancers, likeleukemia(cancers of the blood), head and neck cancers, andmyelodysplasia(bone marrow diseases).
This article will review common symptoms of FA, as well ascauses and risk factors, how the condition is diagnosed, and treatment options.
What Are Symptoms of Fanconi Anemia?
Fanconi anemia(FA) is a rare genetic disorder that causes gradual bone marrow failure. Most often, signs and symptoms of Fanconi anemia appear at birth or early in childhood, between 5 and 10 years of age.
As bone marrow loses its ability to make blood cells and platelets, it can lead to low blood cell counts—a condition known asaplastic anemia. Low blood cell counts and bone marrow failure may lead to the following symptoms:
These symptoms are due to low numbers of red blood cells, white blood cells, or platelets. About 75% of children with FA also are born with one or more of the following physical characteristics:
About 60% will have one of the following nonphysical symptoms:
Causes and Risk Factors
Fanconi anemia (FA) is a hereditary condition that is passed down from generation to generation Although the exact cause of FA is unclear, defects in at least 18 genes that provide instructions to help the body repair certain types of DNA damage have been linked to the disease.
An estimated 80%–90% of FA cases are linked to mutations in one of three genes: FANCA, FANCC, and FANCG.
Most cases are consideredautosomal recessive, which means a child must receive two copies of the mutated gene—one from each biological parent—to have the disorder. People with one mutated gene will be a carrier (able to pass the mutated gene on to their children) but usually won’t develop symptoms.
FA is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and Black South Africans than the general population.
What Is Genetic Testing?
How Fanconi Anemia Is Diagnosed
A diagnosis of Fanconi anemia (FA) is made based on a thorough physical exam, a detailed patient history, and a variety of specialized blood tests.
The most common test for FA is a blood test called achromosomalbreakage test. This test looks for DNA damage that is characteristic of FA. This test can be done in utero (before the child is born) if FA is a concern.
In patients presenting with symptoms, a healthcare provider will take your medical history, ask about your symptoms and any family history with similar disorders, and do a focused physical exam looking for dark spots called café au lait spots and any physical abnormalities. They will also order acomplete blood cell count(CBC).
If FA is suspected, a healthcare provider may also request anelectrocardiogram(EKG), which can detect heart rhythm abnormalities that may be indicative of a heart defect.Computed tomography(CT) scan ormagnetic resonanceimaging(MRI) may show physical or organ defects, including:
The wide variability of symptoms among people with FA makes an accurate diagnosis based on clinical manifestations alone difficult.
To establish the extent of disease in an individual diagnosed with FA, the following evaluations are recommended as needed:
How the Condition Is Treated
The treatment of Fanconi anemia (FA) is based on how low or abnormal the blood counts are and the age of the patient.
Treatment is also geared toward managing your symptoms, which may require the input of multiple specialists, includingpediatricians, surgeons,cardiologists(heart specialists),nephrologists(kidney specialists),urologists(urinary tract specialists),gastroenterologists(GI tract specialists), hematologists (blood specialists),audiologistsandotolaryngologists(specialists who assess and treat hearing problems),ophthalmologists(eye specialists), and other healthcare professionals.
The following short-term strategies to monitor the disease and control symptoms are essential to the treatment of FA:
Longer-term treatment can include:
The following long-term treatments are also commonly used in those with FA to increase blood cell counts:
What Are Bone Marrow Stimulators Used For?
What’s the Prognosis?
A better understanding of the genetic and molecular causes of FA and improved clinical management has transformed the condition from a deadly disease to a chronic condition that can be well managed with lifelong multidisciplinary treatment.
Although the average lifespan for people with the disorder is between 20 and 30 years old, some patients are living into their 30s, 40s, and 50s.
A person’s prognosis largely depends on the progression of their bone marrow failure and whether they go on to develop aplastic anemia. It’s also important to monitor for the presence of related cancers such as acute myeloid leukemia and myelodysplasia, so they can be caught and treated as early as possible.
Blood and bone marrow stem cell transplant have proven to be an effective treatment, but the risk of developing solid tumors increases as people with Fanconi anemia get older, so lifelong screening for these cancers is needed.
Summary
Fanconi anemia (FA) is a rare genetic condition that is passed on from generation to generation. People with this disorder usually inherit a mutated gene from each of their parents. They may be born with physical abnormalities, such as an extra or misshaped or missing thumbs and fingers, an incompletely developed or malformed forearm, or a heart defect.
Most cases of FA are diagnosed before or shortly after birth. In some cases, symptoms may develop later, usually between the ages of 5 and 10. Symptoms may include fatigue, easy bruising, and bleeding from the gum, due to low blood cell counts.
Diagnosis usually involves genetic testing and other blood tests. Imaging studies may also be used. Treating FA is a lifelong battle that requires careful monitor. Fortunately, treatment options have advanced and many people with FA are able to have a fulfilling life.
A Word From Verywell
The treatment of Fanconi anemia has improved immensely due to advances in modern medicine, but it still requires lifelong monitoring, including checking blood counts every three months and occasional bone marrow examination.
Lifestyle changes such as avoiding certain activities that can cause bruising and bleeding if you have low levels of platelets and avoiding tobacco and alcohol to limit your cancer risk are encouraged early in life and often become natural lifelong habits for many people with FA.
9 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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