What Is Fanconi Anemia?
Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is
a rare, inherited blood disorder that leads to bone marrow failure.
FA prevents your bone marrow from making enough new
blood cells for your body to work normally. FA also can cause your bone marrow
to make many abnormal blood cells. This can lead to serious health problems,
such as leukemia (a type of blood cancer).
FA is a blood disorder, but it also can affect many
of your body's organs, tissues, and systems. Children who inherit FA are at
higher risk of being born with birth defects. People who have FA are at higher
risk of some cancers and other serious health problems.
FA is different from Fanconi syndrome. Fanconi
syndrome affects the kidneys. It's a rare and serious condition that mostly
affects children. Children who have Fanconi syndrome pass large amounts of key
nutrients and chemicals through their urine, which leads to serious health and
developmental problems.
Bone Marrow and Blood
Bone marrow is the spongy red tissue inside the
large bones of your body. Healthy bone marrow contains stem cells that develop
into the three types of blood cells that the body needs:
- Red blood cells, which carry oxygen to all parts
of your body. Red blood cells also remove carbon dioxide (a waste product) from
your body's cells and carry it to the lungs to be exhaled.
- White blood cells, which help your body fight
infections.
- Platelets (PLATE-lets), which help your blood
clot.
It's normal for blood cells to die. The lifespan of
red blood cells is about 120 days. White blood cells live less than 1 day.
Platelets live about 6 days. As a result, your bone marrow must constantly make
new blood cells.
If your bone marrow can't make enough new blood
cells to replace the ones that die, you can have serious health problems.
Fanconi Anemia and Your Body
FA is one of many types of
anemia.
The term "anemia" usually refers to a condition in which the blood has a lower
than normal number of red blood cells.
FA is a type of
aplastic
anemia. In aplastic anemia, the bone marrow stops making or doesn't make
enough of all three types of blood cells. Low levels of the three types of
blood cells can harm many of the body's organs, tissues, and systems.
With too few red blood cells, your body's tissues
won't get enough oxygen to work well. With too few white blood cells, your body
may have problems fighting infections. This can make you sick more often and
make infections worse. With too few platelets, you may suffer from excessive
bleeding.
Outlook
If you or your child has FA, you face a greater risk
than other people for some cancers. About 10 percent of people who have FA
develop leukemia.
People who have FA and survive to adulthood are much
more likely than others to develop cancerous solid tumors. The risk of solid
tumors increases with age in people who have FA. These tumors can develop in
the mouth, tongue, throat, or esophagus (the passage leading from the mouth to
the stomach).
Women who have FA are at much greater risk of
developing tumors in the reproductive organs than women who don't have the
disease.
FA is an unpredictable disease. The average lifespan
for people who have FA is between 20 and 30 years. The most common causes of
death related to FA are bone marrow failure, leukemia, and solid tumors.
New medical advances have improved the chances of
surviving longer with FA.
Blood
and marrow stem cell transplant is the major advance in treatment. However,
even with this treatment, the risk of some cancers is greater in people who
have FA.
Other Names for Fanconi Anemia
What Causes Fanconi Anemia?
Fanconi anemia (FA) is an inherited disease.
"Inherited" means that the disease is passed from parents to children through
the genes. At least 13 faulty genes are associated with FA. FA develops when
both parents pass the same faulty FA gene to their child.
People who have only one faulty FA gene are FA
"carriers." Carriers don't have FA, but they can pass the faulty gene to their
children.
If both of your parents have a faulty FA gene, you
have:
- A 25 percent chance of having FA
- A 25 percent chance of not having FA
- A 50 percent chance of being an FA carrier and
passing the gene to any children you have
If only one of your parents has a faulty FA gene,
you won't develop the disorder. However, you have a 50 percent chance of being
an FA carrier and passing the gene to any children you have.
Who Is At Risk for Fanconi Anemia?
Fanconi anemia (FA) occurs in all racial and ethnic
groups and affects men and women equally.
In the United States and Europe, about 1 out of
every 300 people is an FA carrier. This carrier rate leads to 1 in 360,000
people being born with FA.
Two ethnic groups—Ashkenazi Jews (Jews of
Eastern European descent) and Afrikaners (people native to South
Africa)—are more likely than other groups to have FA or be FA carriers.
In the United States, 1 out of 90 Ashkenazi Jews is
a carrier, and 1 out of 30,000 is born with FA. In South Africa, Afrikaners
have a carrier rate of 1 in 77, and 1 out of every 22,000 Afrikaners is born
with FA.
Major Risk Factors
FA is an inherited disease—that is, it's passed
from parents to children through the genes. At least 13 faulty genes are
associated with FA. FA develops if both parents pass the same faulty FA gene to
their child.
Children born into families with a history of FA are
at risk of inheriting the disorder. Children whose mothers and fathers both
have family histories of FA are at even greater risk for FA. A family history
of FA means that it's possible that a parent carries a faulty gene associated
with the disorder.
Children whose parents both carry the same faulty
gene are at greatest risk for inheriting FA. Even if these children aren't born
with FA, they're still at risk of being FA carriers.
Children who have only one parent who carries a
faulty FA gene also are at risk of being carriers. However, they're not at risk
of being born with FA.
What Are the Signs and Symptoms of Fanconi Anemia?
Major Signs and Symptoms
Your doctor may suspect you or your child has
Fanconi anemia (FA) if you have signs and symptoms of:
-
Anemia
- Bone marrow failure
- Birth defects
- Developmental or eating problems
Because FA is an inherited disorder, children may be
tested if one of their brothers or sisters has FA.
Anemia
If you have anemia, you have a lower than normal
number of healthy red blood cells. This means that your blood isn't able to get
enough oxygen to your body's cells.
The most common symptom of anemia is fatigue
(feeling tired or weak). If you have anemia, it may seem hard to find the
energy to do normal activities.
Other symptoms include shortness of breath,
dizziness, headache, coldness in the hands and feet, pale skin, and chest
pain.
Bone Marrow Failure
When your bone marrow fails, it can't make enough of
the three types of blood cells that your body needs to work normally: red blood
cells, white blood cells, and platelets. This can cause many problems that have
various signs and symptoms.
With too few red blood cells, you can develop
anemia. In FA, the size of your red blood cells also can be much larger than
normal. This makes it harder for these cells to work well.
With too few white blood cells, you're at risk for
infections. Infections may last longer and be more serious than in people who
don't have FA.
With too few platelets, you may bleed and bruise
easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay).
Petechiae are tiny red spots caused by bleeding in small blood vessels just
below your skin.
In some people who have FA, the bone marrow makes a
lot of harmful, immature white blood cells called blasts. These blasts don't
work like normal blood cells. As they build up in the bone marrow, they block
the production of normal blood cells.
A large number of blasts in the bone marrow can lead
to a type of blood cancer called acute myeloid leukemia (AML).
Birth Defects
Many birth defects can be signs of FA. These
include:
- Bone or skeleton defects. FA can cause missing,
oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes
may not form fully or normally. The spine may be curved, a condition called
scoliosis (sco-le-O-sis).
- Eye and ear defects. The eyes, eyelids, and ears
may not be normally shaped. A child also may be born deaf.
- Skin discoloration. This includes coffee-colored
areas or odd-looking patches of lighter skin.
- Kidney problems. A child might be born with a
missing kidney or kidneys that aren't shaped normally.
-
Congenital
heart defects. The most common congenital heart defect linked to FA is a
ventricular
septal defect (VSD). VSD is a condition in which the wall that separates
the heart's lower chambers (the ventricles) is deformed or has a hole in it.
Developmental Problems
Other signs and symptoms of FA are related to
physical and mental development. These include:
- Low birth weight
- Poor appetite
- Delayed growth
- Below-average height
- Small head size
- Mental retardation or learning disabilities
Signs and Symptoms of Fanconi Anemia in Adults
Some signs and symptoms of FA may develop as you or
your child gets older. Women who have FA may experience some or all of the
following:
- Sex organs that are less developed than normal
- Menstruating later than women who don't have FA
- Starting menopause earlier than women who don't
have FA
- Problems getting pregnant and carrying a
pregnancy to full term
Men who have FA may have sex organs that are less
developed than normal. They also may be less fertile than men who don't have
the disease.
How Is Fanconi Anemia Diagnosed?
People who have Fanconi anemia (FA) are born with
the disorder. They may or may not show signs or symptoms of it at birth. For
this reason, FA isn't always diagnosed when a person is born. In fact, most
people who have the disorder are diagnosed between the ages of 2 and 15 years.
The tests used to diagnose FA depend on a person's
age and symptoms. In all cases, medical and family histories are an important
part of diagnosing FA. However, because FA has many of the same signs and
symptoms as other diseases, only genetic testing can confirm its diagnosis.
Specialists Involved
A geneticist is a doctor or scientist who studies
how genes work and how diseases and different traits are passed from parents to
children through the genes.
Geneticists do genetic testing for FA. They also can
provide counseling about how FA is inherited and the types of prenatal (before
birth) testing used to diagnose it.
An obstetrician may detect birth defects linked to
FA before your child is born. After your child is born, a pediatrician also can
help find out whether your child has FA.
A hematologist (blood disease specialist) also may
help diagnose FA.
Family and Medical Histories
FA is an inherited disease. Some parents are aware
that their family has a medical history of FA, even if they don't have the
disease. Other parents, especially if they're FA carriers, may not be aware of
a family history of FA. Many parents may not know that FA can be passed from
parents to children.
Information on your family's medical history is very
important to help your doctor diagnose whether you or your child has FA or
another condition with similar symptoms.
If your doctor thinks that you, your siblings, or
your children have FA, he or she may ask you detailed questions about any
personal or family history of
anemia,
surgeries related to the digestive system, or diseases of the immune system.
Your doctor also may ask you about your appetite, eating habits, and the
medicines you take.
If you know your family has a history of FA, or if
your answers to your doctor's questions suggest a possible diagnosis of FA,
your doctor will recommend further testing.
Diagnostic Tests and Procedures
The signs and symptoms of FA aren't unique to the
disease. They're also linked to many other diseases and conditions, such as
aplastic
anemia. For this reason, genetic testing is needed to confirm a diagnosis
of FA. Genetic tests for FA include the following.
Chromosome Breakage Test
This is the most common test for FA. It's available
only in special laboratories (labs). It shows whether your chromosomes (long
chains of genes) break more easily than normal.
Sometimes, skin cells are used for the test, but
usually a small amount of blood is taken from a vein in your arm using a
needle. A technician combines some of the blood cells with certain chemicals.
If you have FA, the chromosomes in your blood sample
break and rearrange when mixed with the test chemicals. This doesn't happen in
the cells of people who don't have FA.
Cytometric Flow Analysis
Cytometric flow analysis, or CFA, is done in a lab.
This test examines how chemicals affect your chromosomes as your cells grow and
divide. Skin cells are used for this test.
A technician mixes the skin cells with chemicals
that can cause the chromosomes in those cells to act abnormally. If you have
FA, your cells are much more sensitive to these chemicals. The chromosomes in
your skin cells will break at a high rate during the test. This doesn't happen
in the cells of people who don't have FA.
Mutation Screening
A mutation is an abnormal change in a gene or genes.
Geneticists and other specialists can examine your genes, usually using a
sample of your skin cells. With special equipment and lab processes, they can
look for gene mutations that are linked to FA.
Diagnosing Different Age Groups
Before Birth (Prenatal)
If your family has a history of FA and you get
pregnant, your doctor may want to test you or your fetus for FA.
Two tests can be used to diagnose FA in a developing
fetus: amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik
VIL-us) sampling (CVS). Both tests are done in a doctor's office or hospital.
Amniocentesis is done 15 to 18 weeks after a
pregnant woman's last period. A doctor uses a needle to remove a small amount
of fluid from the sac around the fetus. A technician tests chromosomes (chains
of genes) from the fluid sample to see whether they have faulty genes
associated with FA.
CVS is done 10 to 12 weeks after a pregnant woman's
last period. A doctor inserts a thin tube through the vagina and cervix to the
placenta (the temporary organ that connects the fetus to the mother).
The doctor removes a tissue sample from the placenta
using gentle suction. The tissue sample is sent to a lab to be tested for
genetic defects associated with FA.
At Birth
Three out of four people who inherit FA are born
with birth defects. If your baby is born with certain birth defects, your
doctor may recommend genetic testing to confirm a diagnosis of FA.
Birth defects often linked to FA include:
- Missing, oddly shaped, or three or more thumbs
- Poorly developed or missing bones in the arms
- Hips, legs, hands, and toes that aren't fully or
normally formed
- Curved spine (a condition called scoliosis)
- Eyes, eyelids, and ears that aren't fully or
normally shaped
- Skin discoloration
- Missing or misshaped kidneys
-
Congenital
heart defects
- Mental retardation
- Serious problems with the digestive system
Childhood and Later
You or your child may be born with FA, but not have
birth defects. You may not be diagnosed with the disease until signs of bone
marrow failure or cancer occur. This usually happens within the first 10
years of life.
Signs of bone marrow failure most often begin
between the ages of 3 and 12 years, with 7 to 8 years as the most
common ages. However, 10 percent of children who have FA aren't diagnosed until
after 16 years of age.
If your bone marrow is failing, you may have signs
of aplastic anemia. In aplastic anemia, your bone marrow stops making or
doesn't make enough of all three types of blood cells: red blood cells, white
blood cells, and platelets.
Aplastic anemia can be acquired after birth through
exposure to chemicals, radiation, or medicines; or, like FA, it can be
inherited.
Doctors diagnose aplastic anemia using:
- Family and medical histories and a physical
exam.
- A
complete
blood count (CBC) to check the number, size, and condition of your red
blood cells. The CBC also checks numbers of white blood cells and platelets.
- A reticulocyte (re-TIK-u-lo-site) count. This
test counts the number of new red blood cells in your blood to see whether your
bone marrow is making red blood cells at the proper rate.
-
Bone
marrow tests. For a bone marrow aspiration, a small amount of liquid bone
marrow is removed and tested to see whether it's making enough blood cells. For
a bone marrow biopsy, a small amount of bone marrow tissue is removed and
tested to see whether it's making enough blood cells.
If you or your child is diagnosed with aplastic
anemia, your doctor will want to find the cause. If your doctor suspects you
have FA, he or she may recommend genetic testing.
For more information, see the Diseases and
Conditions Index
Aplastic
Anemia article.
How Is Fanconi Anemia Treated?
Doctors decide how to treat Fanconi anemia (FA)
based on a person's age and how well or how poorly the person's bone marrow is
making new blood cells.
Goals of Treatment
Long-term treatments for FA can:
- Cure the anemia. Damaged bone marrow cells are
replaced with healthy ones that can make enough of all three types of blood
cells on their own.
—Or—
- Treat the symptoms without curing the cause.
This is done using medicines and other substances that can help your body make
more blood cells for a limited time.
Observation and Short-Term Treatment
If you or your child has FA, but your bone marrow is
still able to make enough new blood cells, your doctor may do frequent blood
count checks.
During this time of observation, your doctor will
probably want you to have
bone
marrow tests once a year. Your doctor also will screen you closely for any
signs of cancer or tumors.
If your blood counts begin to drop sharply and stay
low, your doctor may assume your bone marrow is failing. He or she may give you
antibiotics to help your body fight infections.
In the short term, your doctor also may want to give
you blood
transfusions to increase your blood cell counts to normal levels. However,
long-term use of blood transfusions can reduce the chances that other
treatments, which can help your body make enough blood cells on its own, will
work.
Long-Term Treatment
The four main types of long-term treatment for FA
are:
Blood and Marrow Stem Cell Transplant
A blood and marrow stem cell transplant is the
current standard treatment for patients who have FA that's causing major bone
marrow failure. Healthy stem cells from another person, called a donor, are
used to replace the faulty cells in your bone marrow.
If you're going to receive stem cells from another
person, your doctor will want to find a donor whose stem cells match yours as
closely as possible.
Stem cell transplant is most successful in younger
people who:
- Have few or no serious health problems
- Receive stem cells from a brother or sister who
is a good donor match
- Have had few or no previous blood
transfusions
During the transplant, you'll get donated stem cells
in a procedure that's like a blood transfusion. Once the new stem cells are in
your body, they travel to your bone marrow and begin making new blood cells.
A successful stem cell transplant will allow your
body to make enough of all three types of blood cells to work normally.
However, even if you've had a stem cell transplant to treat FA, you'll still be
at risk for some types of blood cancer and cancerous solid tumors. Your doctor
will check your health regularly and often after the procedure.
For more information about stem cell transplants,
including finding a donor, having the procedure, and complications, see the
Diseases and Conditions Index
Blood
and Marrow Stem Cell Transplant article.
Androgen Therapy
Before improvements made stem cell transplants more
effective, androgen therapy was the standard treatment for people who had FA.
Androgens are artificial male hormones that can help your body make more blood
cells for long periods.
Androgens are effective at increasing your red blood
cell and platelet counts. They don't work as well at increasing your white
blood cell count.
Unlike a stem cell transplant, androgens don't allow
your bone marrow to make enough of all three types of blood cells on its own.
You may need ongoing treatment with androgens to control the effects of FA.
Also, over time, androgens lose their ability to help your body make more blood
cells, which means you'll need other treatments.
Androgen therapy can have serious side effects, such
as liver disease. This treatment also can't prevent you from developing
leukemia (a type of blood cancer).
Synthetic Growth Factors
Your doctor may choose to treat your FA with growth
factors. These are substances found in your body, but they also can be
man-made.
Growth factors help your body make more red and
white blood cells. Growth factors that can help your body make more platelets
are still being researched.
More studies are needed on growth factor treatment
for FA. Early results suggest that growth factors may have fewer and less
serious side effects than androgens.
Gene Therapy
Researchers are looking for ways to replace faulty
FA genes with normal, healthy genes. They believe that the replacement genes
will be able to make the proteins needed to repair and protect your bone marrow
cells.
Early results hold promise, but this form of
treatment for FA is still in the experimental stage.
Surgery
Surgery may be needed to improve the use of arms,
thumbs, hips, legs, and other parts of the body that aren't formed right
because of birth defects caused by FA.
If your child is born with a
ventricular
septal defect—a hole in the wall that separates the lower chambers of
the heart—he or she may need surgery to close the hole so the heart can
work properly.
Children who have FA also may need surgery to
correct digestive system problems that can harm their nutrition, growth, and
survival.
One of the most common problems is an FA-related
birth defect in which the trachea (windpipe), which carries air to the lungs,
is connected to the esophagus, which carries food to the stomach.
This can cause serious breathing, swallowing, and
eating problems and can lead to lung infections. Surgery is needed to separate
the two organs to allow normal eating and breathing.
How Can Fanconi Anemia Be Prevented?
You can't prevent Fanconi anemia (FA) because it's
an inherited disease. If a child gets two copies of the same faulty FA gene, he
or she will have the disease.
If you're at
high
risk for FA and are planning to have children, you may want to consider
genetic counseling. A counselor can help you understand your risk of having a
child who has FA and help explain the choices that are available to you.
If you're already pregnant, genetic testing can show
whether your child has FA. For more information on genetic testing, see
"How
Is Fanconi Anemia Diagnosed?"
In the United States, Ashkenazi Jews (Jews of
Eastern European descent) are at higher risk of FA than the general population.
For Ashkenazi Jews, it's recommended that prospective parents get tested for
FA-related gene mutations before getting pregnant.
Preventing Complications
If you or your child has FA, you can prevent certain
complications linked to the disorder.
Pneumonia,
hepatitis, and chicken pox can occur more often and more severely in people who
have FA compared to those who don't. Talk to your doctor about getting yourself
or your child vaccinated for these conditions.
If you or your child has FA, you're more likely to
develop certain types of cancer than people who don't have FA. For example,
people who have FA are at increased risk for leukemia (a type of blood cancer),
myelodysplastic syndrome (abnormal levels of all three types of blood cells),
and liver cancer. Screening and early detection are important for managing
these life-threatening diseases.
Living With Fanconi Anemia
Improvements in
blood
and marrow stem cell transplants have increased the chances of living
longer if you have FA. Other new treatments also are being developed that hold
promise.
However, FA still presents serious challenges to
patients and their families.
What To Expect
FA is a life-threatening illness. This is an
emotionally difficult issue for people who have FA and their families. If you
or your child is diagnosed with FA, you and your family members may feel shock,
anger, grief, and depression. If you're the parent or grandparent of a child
who has FA, you may blame yourself for causing the disease.
Your doctor will want to test all of your children
for FA if one of your children is born with the disorder. If you're diagnosed
with FA as an adult, your doctor may recommend that your brothers and sisters
be tested for the disorder.
All of these things can create stress and anxiety
for your entire family. Family counseling for FA may give you and other
relatives important support, comfort, and advice that will help you deal with
the problems that FA can cause.
One of the hardest issues to deal with is telling
children that they have FA and what effect it will have on their lives.
Most FA support groups believe that parents need to
give children information about the disorder in terms they can understand.
These groups recommend answering questions honestly and directly, stressing the
positive developments in treatment and survival.
If your child becomes upset or begins to develop
behavioral issues after learning that he or she has FA, you may want to seek
counseling.
Special Concerns and Needs
Many people who have FA survive to adulthood. If you
have FA, you'll need ongoing medical care. Your blood counts will need to be
checked regularly.
Although your body can use healthy bone marrow cells
from a donor to make the blood cells you need, you remain at risk for many
cancers. You'll need to be screened for these cancers more often than people
who don't have FA.
If FA has left you with a very low platelet count,
your doctor may advise you to avoid contact sports and other activities that
carry the risk of physical injury.
If your child has FA, he or she may have problems
eating or keeping food down. Your doctor may recommend additional, special
feedings to keep your child's weight at the level needed for ongoing
development and good health.
Support Groups
You or your family members may find it helpful to
know about resources that can give you emotional support as well as helpful
information about FA and its treatment.
Your doctor or hospital social worker may have
information about counseling and support services. They also may be able to
refer you to support groups that offer help with financial planning, because
treatment for FA can be costly.
Key Points
- Fanconi anemia (FA) is a rare, inherited blood
disorder that leads to bone marrow failure.
- FA prevents your bone marrow from making enough
new blood cells for your body to work normally. FA also can cause your bone
marrow to make many abnormal blood cells. This can lead to serious health
problems, such as leukemia (a type of blood cancer).
- FA is a blood disorder, but it also can affect
many of your body's organs, tissues, and systems. People who have FA are at
higher risk for certain cancers, birth defects, and other serious health
problems.
- FA is a type of
aplastic
anemia. In aplastic anemia, your bone marrow slows down or stops making all
three types of blood cells: red blood cells, white blood cells, and platelets.
- FA is an inherited disease. It's passed from
parents to children through the genes. At least 13 faulty genes are associated
with FA. FA develops when both parents pass the same faulty FA gene to their
child.
- FA occurs in all racial and ethnic groups and
affects men and women equally. Two ethnic groups—Ashkenazi Jews and
Afrikaners—are more likely than other groups to have FA.
- Your doctor may suspect you or your child has FA
if you have signs and symptoms of
anemia,
bone marrow failure, birth defects, or developmental or eating problems.
- Medical and family histories are an important
part of diagnosing FA. A diagnosis of FA is confirmed through genetic tests,
including chromosome breakage testing, cytometric flow analysis, and mutation
screening.
- Doctors decide how to treat FA based on a
person's age and how well or how poorly the person's bone marrow is making new
blood cells.
- Short-term treatment for FA may include ongoing
monitoring, antibiotics (to help fight infections if your blood counts drop),
and blood
transfusions. The four main types of long-term treatment for FA are
blood
and marrow stem cells transplant, androgen therapy, synthetic growth
factors, and gene therapy.
- Children who have FA may need surgery to improve
the use of thumbs, arms, hips, legs, and other parts of the body that aren't
formed right because of birth defects caused by FA. Surgery also may be needed
to correct heart defects or problems in the digestive and breathing systems.
- Having FA is an emotionally difficult issue for
people who have the disorder and their families. Individual or family
counseling may give you and other relatives important support, comfort, and
advice that will help you deal with the problems that FA can cause.
- FA is an unpredictable disease. The average
lifespan for people who have FA is between 20 and 30 years. The most common
causes of death related to FA are bone marrow failure, leukemia (a type of
blood cancer), and solid tumors.
- New medical advances have improved the chances
of surviving longer with FA. Blood and marrow stem cell transplant is the major
advance in treatment. Other new treatments also are being developed that hold
promise.
Links to Other Information About Fanconi Anemia
NHLBI Resources
Non-NHLBI Resources
Clinical Trials
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