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.