Symptoms of Fanconi Anemia

Fanconi anemia (FA) is a rare genetic disorder, which means it is passed from parent to child. The condition is usually diagnosed before or at birth.

Symptoms of FA, if present, usually begin between the ages of 5 and 10, mainly due to anemia (lack of healthy red blood cells) or bone marrow failure. At diagnosis, you will be referred to a hematologist (a doctor who specializes in blood disorders) with FA expertise for medical monitoring and management.

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

common symptoms

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

Hematopoietic stem cells in the bone marrow produce three types of blood cells: red blood cells (erythrocytes), which carry oxygen to body tissues; white blood cells (leukocytes), which protect the body from infection; and platelets, which help blood clot.

Because the bone marrow is unable to produce blood cells, blood cell counts become low, causing the following symptoms:

  • extreme fatigue
  • frequent infections
  • easy bruising
  • bleeding from the nose or gums

FA affects almost every organ in 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 and small
  • Thumb and arm abnormalities (missing, deformed, or redundant thumb or underdeveloped/missing forearm bone)
  • low birth weight
  • small head or eyes
  • Abnormalities of the kidneys, genitals, gastrointestinal tract, heart, and central nervous system.
  • curvature of the spine (scoliosis)
  • deaf
  • internal bleeding
  • Congenital (birth) heart defects
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About 60% of people experience one of the following nonphysical symptoms:

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

Some signs and symptoms of FA may appear as you or your child grows older. Women with FA may have some or all of the following symptoms:

  • Underdeveloped sex organs
  • Menstruation later than women without FA
  • start menopause earlier than women without FA
  • Problems with pregnancy and pregnancy to term

Men with FA may have less developed sex organs than normal and may have reduced fertility compared to men without the disease.

Learn how genetic diseases are inherited

rare symptoms

Fanconi anemia has many different rare symptoms that vary from patient to patient.

In infants and children with FA, the presence of bone marrow failure is extremely rare, and the age of onset (when symptoms begin) can vary widely, even among siblings.

Delayed growth is a common sign of FA, but the reasons why it happens vary. Some researchers believe that hormonal problems (endocrine disorders), such as impaired glucose/insulin metabolism, hypothyroidism, and an abnormal response to growth hormone, may help explain why low birth weight is common, while the median Height is about 5%.

Patients with FA also have an increased risk of renal (kidney) abnormalities and should be screened for with imaging studies.

Finally, people with FA are prone to certain blood cancers such as myelodysplasia Syndromes (MDS) and Acute myeloid leukemia (Anti-Money Laundering).

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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 patients with FA develop bone marrow failure. When all three blood cell lines — red blood cells, white blood cells and platelets — are not made, the condition is called severe aplastic anemia. This situation requires careful monitoring and management.

When to see a healthcare provider

Children with Fanconi anemia may see numerous healthcare providers frequently throughout their lives.

Frequent check-ups make it less likely that the team will miss early signs of medical complications, but it also poses the risk that diagnosis and management plans will not be communicated effectively between specialists. All specialists must communicate with the attending physician (usually a hematologist or oncologist) to coordinate treatment.

If your child is frequently sick, doesn’t eat or gain weight, bruises easily or has chest pains and shortness of breath, they may have medical complications or side effects from medications. In any case, seek medical attention immediately.

Learning about the growing knowledge about FA and its potential treatments can help parents feel calm, focused, and grounded. Talking to other parents, understanding the decision-making process, and getting support can help parents understand the signs and symptoms to watch for, while also helping to maintain emotional balance.

generalize

Fanconi anemia is a genetic disorder that runs through families. Signs of this condition usually appear at birth and may include low birth weight and abnormalities in the thumb and arms.

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Other symptoms may appear between the ages of 5 and 10, and are usually due to the onset of bone marrow failure. These symptoms may include fatigue, easy bruising, frequent infections, and excessive bleeding from the gums or nose.

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

VigorTip words

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

The reality of having to care for a child with a rare and serious illness during these challenging times can feel isolating, but building a support community around you and your child, and leveraging that support system, will make more than ever are more important.

Your healthcare team will teach you to watch for signs and symptoms to avoid health complications, but remember to review your mental and emotional health with yourself, your children, and other family members. This journey can be intertwined with grief, loss, and uncertainty, so valuing mental health is an important but underrated quality in managing any illness.