Symptoms of Fanconi Anemia

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Fanconi anemia (FA) is a rare inherited disorder, meaning it's passed from parents to children. This condition is often diagnosed before or at birth.

If symptoms of FA develop, they usually begin between the ages of 5 and 10 and are largely due to anemia (lack of healthy red blood cells) or bone marrow failure. At the time of diagnosis, you will be referred to a hematologist (a doctor specializing in blood disorders) with expertise in FA for medical monitoring and management.

This article will review common and rare symptoms of RA, complications, and when to see a healthcare provider.

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Frequent Symptoms

Many of the earliest signs and symptoms of Fanconi anemia (FA) are the result of bone marrow failure. Bone marrow is the spongy tissue in the middle of bones that produces the blood cells that your body needs to function and fight infection.

Blood stem cells in the bone marrow produce three blood cell types: red blood cells (erythrocytes) that carry oxygen to the body’s tissues; white blood cells (leukocytes) that defend the body against infections; and platelets that help the blood clot.

As bone marrow failure to produce blood cells, blood cell counts become low, leading to the following symptoms:

  • Extreme fatigue
  • Frequent infections
  • Easy bruising
  • Nose or gum bleeding

FA affects almost every organ of the body. About 75% of children with FA have one or more of the following physical characteristics:

  • Café au lait spots (light-brown birthmarks)
  • Short stature
  • Thumb and arm abnormalities (missing, misshapen, or extra thumbs or an incompletely developed/missing forearm bone)
  • Low birth weight
  • Small head or eyes
  • Abnormalities of the kidneys, genitals, gastrointestinal tract, heart, and central nervous system.
  • Curved spine (scoliosis)
  • Deafness
  • Internal bleeding
  • Congenital (at-birth) heart defects

About 60% will have one of the following non-physical symptoms:

  • Learning disabilities (problems) or intellectual disabilities
  • Poor appetite
  • Delayed growth

Some signs and symptoms of FA may develop as you or your child gets older. Females who have FA may have some or all of the following symptoms:

  • 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

Males who have FA may have sex organs that are less developed than normal and may have decreased fertility compared to men who don’t have the disease. 

Rare Symptoms

Fanconi anemia presents with many different rare symptoms, which vary from patient to patient.

The presence of bone marrow failure is incredibly rare in infants and small children with FA, and the age of onset (when symptoms start to develop) can be highly variable, even among siblings.

Delayed growth is a common sign of FA, but the reasons why this occurs vary too. Some researchers believe that hormone issues (endocrinopathies) such as impaired glucose/insulin metabolism, hypothyroidism, and subnormal response to growth hormone may help explain why low birth weight is common and the median height of FA patients lies around the fifth percentile.

FA patients are also at an increased risk of renal (kidney) abnormalities, which should be screened for with imaging tests.

Finally, people with FA have a predisposition to certain blood cancers like myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).

Complications of Fanconi Anemia

Fanconi anemia can lead to serious complications such as bone marrow failure when the bone marrow stops making or makes damaged blood cells.

Some studies have found that up to 90% of people with FA will experience bone marrow failure. When all three blood cell lines—red blood cells, white blood cells, and platelets—are not being made, the condition is called severe aplastic anemia. This condition needs to be carefully monitored and managed.

When to See a Healthcare Provider

Children with Fanconi anemia will likely see a multitude of medical providers, with high frequency, throughout their life.

Frequent checkups make it less likely that the team will miss early signs of a medical complication, but it also introduces the risk that diagnoses and management plans are not effectively communicated between specialists. It is essential that all subspecialists communicate with the primary physician, usually the hematologist or oncologist, to coordinate care.

If your child is getting sick frequently, not eating or gaining weight, easily developing bruises, or having chest pain and shortness of breath, they may have a medical complication or medication side effect. No matter the case, seek immediate medical attention.

Staying abreast of the ever-growing body of knowledge about FA and its potential treatments can help parents feel calm, focused, and grounded. Talking to other parents, understanding the processes of decision-making, and getting support can help parents to know what signs and symptoms to look out for, while also serving to maintain the emotional balance.

Summary

Fanconi anemia is a genetic condition that is passed on through families. Signs of this condition are often present at birth and may include low birth weight and thumb and arm abnormalities.

Other symptoms may develop later in life between the ages of 5 and 10 and are often due to the beginning of bone marrow failure. These symptoms may include fatigue, easy bruising, frequent infections, and excess bleeding from the gums or nose.

Fanconi anemia will require lifelong treatment and management. The sooner you consult a healthcare provider about symptoms and get a diagnosis, the sooner you or your child can start on a treatment course to manage symptoms and slow the disease progression.

A Word From Verywell

Having Fanconi anemia or caring for a loved one with FA can be very difficult. FA affects children and young adults so navigating your own emotions while also seeking medical care, providing support, maintaining hope, and sustaining some semblance of a normal family life is understandably difficult.

During these challenging times, the reality of having to care for a child with a rare and serious illness can feel isolating, but surrounding yourself and your child with a community of support, and tapping into that support system, will be more important than ever. 

Your healthcare team will teach you the signs and symptoms to look out for to avoid health complications, but remember to check in with yourself, your child, and other family members about their mental and emotional health. This journey can be interwoven with grief, loss, and uncertainty, so placing value on mental health is an important but understated quality in managing any illness. 

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7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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