General Condition Information
What is Fabry Disease
Fabry disease is an inherited (genetic) condition that prevents the body from processing glycosphingolipids properly. Fabry disease is named for one of the first doctors to describe the condition.
Glycosphingolipids help maintain the shape of cells and support other important cell processes. The enzyme alpha-galactosidase A (alpha-Gal A) breaks down glycosphingolipids in lysosomes, the recycling compartments in your cells.
Fabry disease develops when alpha-Gal A is present at low levels or does not work correctly. Build-up of glycosphingolipids affects the function of the body’s organs.
There is more than one type of Fabry disease:
- Classic Fabry disease
- Atypical or variant types of Fabry disease, with later onset and fewer symptoms.
These types differ in signs and symptoms and age of onset. The severity of the type your baby has depends on how well their body can break down glycosphingolipids.
Without treatment, high levels of glycosphingolipids can damage the kidneys, heart, eyes, and nerves. This damage leads to the signs and symptoms of the condition.
Newborn Screening and Follow-Up
Newborn screening for Fabry disease requires collecting a small amount of blood from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
Screening measures how much alpha-Gal A is in your baby’s blood. Babies with a low level of this enzyme might have Fabry disease.
If your baby’s blood spot screening result for Fabry disease is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood or urine tests
- DNA testing using a blood or cheek swab sample
You should complete any recommended follow-up testing as soon as possible. Children with this condition can have serious health problems if they are not diagnosed quickly. It is important for the whole family to know if a baby has Fabry disease because other family members may need immediate treatment.
False-positive newborn screening results for this condition may happen. Some babies with positive newborn screening results for Fabry disease have “pseudodeficiency.” Pseudodeficiency means that a baby’s enzyme levels are low on the screening but are normal in their body. These babies do not have and will never develop Fabry disease.
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of Fabry disease in boys usually don’t appear until late infancy to early childhood. Girls with Fabry disease may also have signs and symptoms of the disease, but they are usually less severe and happen at a later age than boys.
Early signs of the condition may include the following:
- Pain in hands and feet, especially with fever or exercise
- Low or no sweating (hypohidrosis)
- Skin rash
- Digestive problems, like diarrhea
- Cloudiness in the eyes that doesn’t affect vision
- Nausea or vomiting
If your baby has Fabry disease, it is possible that other family members may have Fabry disease as well. Signs of Fabry disease in adults include the following:
- Early heart disease (including early heart attack and heart failure)
- Kidney failure, typically starting with high protein in urine
- Early strokes
A change in the GLA gene causes Fabry disease. This gene gives instructions for making the enzyme alpha-Gal A that breaks down glycosphingolipids.
A changed GLA gene prevents the cells from breaking down glycosphingolipids properly. Glycosphingolipids then build up in special processing compartments of the cells called lysosomes. When lysosomes get too full, cells do not function properly. In Fabry disease, the cells of the kidneys, heart, eyes, and nerves are most affected.
- Fabry disease is inherited in an X-linked recessive pattern, which means babies inherit this condition on their X‑chromosome.
- Baby boys only have one X-chromosome. All boys with one nonworking GLA gene (on their only X-chromosome) have Fabry disease. Therefore Fabry disease is more common in boys.
- Baby girls have two X-chromosomes. In rare cases, baby girls can also have Fabry disease if they have:
- Two nonworking GLA genes (one on each chromosome), or
- One working and one nonworking GLA gene, but the the body is prevented from reading the working GLA gene.
- Girls with one working copy and one nonworking copy of the GLA gene are called carriers.
- Some female carriers have symptoms and are diagnosed as having Fabry disease. Usually, these females have milder symptoms that start later in adulthood.
- Carriers may pass down a nonworking copy of the gene to their children.
- Carriers without any symptoms are also called asymptomatic females.
- Parents who already have a boy with Fabry disease have a 1 in 2 chance of having another son born with Fabry disease. Parents who have a girl who is a Fabry disease carrier have a 1 in 2 chance of having a boy with Fabry disease, or another girl who is a carrier.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.
Treatment for Fabry disease does not typically begin in infancy, but babies should be monitored regularly so treatment can begin as soon as it is necessary. If family members are also found to have Fabry disease, those family members may need to be treated right away.
Treatments may include the following:
- Enzyme replacement therapy (ERT)
- Pain medications
- Medicines to help improve enzyme activity (chaperone therapy)
- Other medications to address other health problems
Children who receive early and ongoing treatment for Fabry disease can live longer and have better health.