Fanconi Anemia: Signs, Symptoms, Long-Term Outlook
What is Fanconi anemia?
Fanconi anemia (FA) is a rare inherited anemia that over time leads to bone marrow failure, or aplastic anemia. It occurs when both parents carry a mutation, or defect, in one of several FA genes, and their child inherits the defective gene from both parents.
Approximately 10 to 20 children are born with FA each year in the US. Sometimes, FA may be suspected at birth by one or more of the following physical traits:
- Skin discolorations
- Hand, arm and other skeletal anomalies
- Kidney problems
- Small head or eyes
- Low birth weight
- Gastrointestinal problems (bowel)
- Small reproductive organs in males
- Heart defects
Since these physical characteristics can be indicative of other conditions, and since some patients may have no obvious physical traits of FA, the condition may not be diagnosed at birth. In fact, children with FA are most often diagnosed between the ages of 6 and 8 when they may exhibit symptoms such as:
- Unexplained fatigue
- Recurrent colds or viral infections
- Recurrent nosebleeds
- Easy bruising
- Blood in the stool or urine
- Shortness of breath
- Poor growth / short stature
In rare cases, symptoms do not occur until early adulthood.
How is Fanconi anemia diagnosed?
Anyone who has displayed the physical characteristics and symptoms of FA or who develops aplastic anemia should be tested for FA. Initially, blood tests will be done to check for low white blood cell, red blood cell and platelet counts and other abnormalities.
In addition to a complete medical history and thorough physical exam, a chromosome breakage test is used to observe how blood cells respond to chemically induced damage. This test is used to confirm a diagnosis of FA. We recommend that this test be administered by Arleen Auerbach, MD, at The Rockefeller University, New York, NY.
Upon diagnosis, patients will be referred to a multidisciplinary team of specialists, including a hematologist and other specialists with expertise in Fanconi anemia, who can treat both FA and the complications of the condition. Families will also learn about treatment options and meet with the bone marrow transplant team. Routine testing on vital organs may also be conducted to check for any abnormalities.
How is Fanconi anemia treated?
The progression of the disease varies in patients and requires regular, life-long monitoring. Treatment strategies depend on the stage of the condition and the extent of physical traits and complications that result from the condition.
Current therapies for Fanconi anemia include:
- The use of hormones to stimulate red blood cell production
- The use of growth factors to stimulate white blood cell production
- Bone marrow transplantation (BMT) when the condition becomes severe or if patients are not candidates for hormones or growth factors; BMT can be a cure for the blood problems associated with FA
- Other novel and investigational therapies, including stem cell collection, gene transfer, and Enbrel" (etanercept) drug therapy available through the Fanconi Anemia Comprehensive Care Center at Cincinnati Children's
Specialized therapies and surgeries can be used to treat and correct symptoms and complications of FA, such as:
- Heart surgery to correct heart defects
- Orthopaedic surgery to correct anomalies of the hands, fingers and skeletal system
- Therapies for gastrointestinal (GI), kidney or other problems associated with the condition
- Hormonal therapy to treat growth deficiency, thyroid conditions and diabetes
Because this condition is rare, it is important to seek out FA treatment specialists. A non-profit research organization, the Fanconi Anemia Research Foundation, Inc., can provide treatment and testing resources as well as additional educational and emotional support.
What is the prognosis for Fanconi anemia?
There are therapies available to treat FA at different stages of the condition. Bone marrow transplantation (BMT) is essential as FA becomes severe and can be a cure for blood problems associated with FA. Even after successful BMT, patients with FA are still at increased risk of developing gynecological and gastrointestinal (GI) cancers and should be monitored regularly.
However, quality, comprehensive care is available. Since FA research is on-going, clinical trials and emerging therapies offer greater hope to patients and their families. Genetic counseling and educational and emotional support from the treatment team also helps patients and families understand and cope with the condition.
Learn More About Fanconi anemia
To learn more about Fanconi anemia and blood marrow transplantation, refer to these resources:
Contact the Fanconi Anemia Comprehensive Care Center
For more information about the Fanconi Anemia Comprehensive Care Center at Cincinnati Children's Hospital Medical Center, contact robin.mueller@cchmc.org.
Rev. 4/06
