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 there are signs and symptoms of:
-
Anemia
- Bone marrow failure
- Birth defects
- Developmental or eating problems
Because FA is an inherited disease, children may be
tested if one of their brothers or sisters has the disease.
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, so they can't work normally. Symptoms of
anemia include:
- Fatigue (tiredness)
- Weakness
- Dizziness
- Coldness in your hands and feet
- Chest pains
- Headaches
- Pale skin
Bone Marrow Failure
When your bone marrow fails, it can't make enough of
the three types of blood cells—red and white blood cells and
platelets—that your body needs to work normally. This can cause many
problems, with 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 more difficult for these cells to work well.
With too few white blood cells, you may have
infections more often and they 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.
Sometimes when you have FA, your 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 your bone marrow, they block
the production of normal blood cells. A large number of blasts in your bone
marrow can lead to a type of blood cancer called acute myeloid leukemia (AML).
Birth Defects
Many different 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 when the wall that separates the left and right
chambers of the heart (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
- Slower growth than other children
- Lower than normal 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 with FA may experience some or all of the
following:
- Sex organs that are less developed than normal
- Starting menstruation later than women who don't
have FA
- Starting menopause earlier than women who don't
have FA
- Difficulty becoming pregnant and carrying a
pregnancy to full term
Men who have FA may have male sex organs that are
less developed and may be less fertile than men who don't have the disease.
|