Also known as:
- Alpha-galactosidase A deficiency
- Anderson-Fabry Disease
- Angiokeratoma Corporis Diffusum
- Angiokeratoma diffuse
- Ceramide trihexosidase deficiency
- GLA deficiency
- Hereditary dystopic lipidosis
Fabry disease is a condition in which the body is unable to break down certain fats. It is considered a lysosomal storage disorder because people affected by Fabry disease have lysosomes (a specific part of cells) that cannot break down certain types of fat molecules. This causes undigested fat molecules and harmful substances to build up in lysosomes in cells throughout the body. Fabry disease can cause episodes of pain, progressive kidney damage, heart attack, and stroke. For some individuals with Fabry disease, detecting it early and beginning treatment may help to prevent some of the severe health outcomes associated with the condition.
Your baby’s doctor may ask you if your baby is showing any of the signs of Fabry disease (see Early Signs below). If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.
If your baby’s newborn screening result for Fabry disease was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated Fabry disease can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.
Follow-up testing will involve checking your baby’s blood and urine samples for signs of Fabry disease. Harmful amounts of certain substances build up in the body when a child has a lysosomal storage disorder, so measuring the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. Finding a malfunctioning enzyme called alpha-galactosidase A, high levels of a fatty substance called globotriaosylceramide in cells throughout the body, or high levels of proteins in the urine may indicate that your baby has Fabry disease.
About Fabry disease
Signs of Fabry disease can begin any time from infancy to childhood. Usually, signs begin to show between the ages of 4 to 8.
Signs of Fabry disease include:
- Episodes of pain, particularly in hands and feet (“Fabry crises”)
- Small, dark red spots on skin (angiokeratomas)
- Loss of ability to sweat (hypohidrosis)
- Cloudiness in front part of eyes (corneal opacity)
- Hearing loss
- Difficulty gaining weight
- Stomach pain, nausea, and vomiting
- Unknown cause of kidney failure
- Heart murmur (arrhythmia)
Fabry crises may increase in intensity when your baby has a fever, is physically active, or under fatigue or stress. Rapid changes in temperature may also bring about these episodes of pain.
Many of these signs occur over time due to the build up of harmful substances in your baby’s cells. They can be triggered by long periods of time without eating, illnesses, and infections.
If your baby shows any of these signs, be sure to contact your baby’s health care provider immediately.
There is no treatment for Fabry disease, but there are many things you can do to help manage your baby’s signs and symptoms and to prevent future complications.
Your baby may need to be on a restricted diet in order to avoid the fats that his or her body cannot break down. A dietician or a nutritionist can help you plan a healthy, low-fat diet for your child. This diet will likely need to continue through adulthood.
Supplements and Medications
Your baby’s health care provider may recommend your baby to go on enzyme replacement therapy (ERT) to improve the signs and symptoms of Fabry disease and to stabilize your baby’s organ function. It is suggested that individuals with Fabry disease begin ERT as soon as possible, even if symptoms have not yet appeared, to reduce future risks for heart, brain, and kidney complications.
Your baby’s health care provider may prescribe diphenylhydantoin and/or carbamazepine to reduce the occurrence and severity of pain episodes, or gabapentin to improve pain.
As your child gets older, he or she may be prescribed ACE inhibitors to reduce the levels of protein in the urine, which can help to prevent kidney failure. Aspirin may also be prescribed to help prevent potential stroke, heart disease, and kidney failure.
Pain Management Techniques
Pain is commonly associated with Fabry disease. Your baby’s doctor may recommend ways to reduce the severity of pain episodes, such as:
- Avoiding certain strenuous activities
- Preparing in advance for changing weather conditions
- Conserving energy with frequent naps or breaks
- Increasing intake of water or other liquids
Children who are treated early for Fabry disease can have healthy growth and development. This is why newborn screening for Fabry disease is so important.
Even with treatment, some children may experience the signs and symptoms associated with Fabry disease, such as episodes of pain or hearing loss (see Early Signs).
Individuals who do not receive treatment for Fabry disease early on are at risk for heart attacks, stroke, or kidney disease in the future.
When we eat food, enzymes help break it down. Some enzymes break down fats into smaller components. In individuals with Fabry disease, the enzyme alpha-galactosidase A (alpha-Gal A) is not working correctly.
This enzyme is active in lysosomes, the recycling centers within cells. When it works correctly, alpha-Gal A breaks down a naturally-occurring, fatty substance called globotriaosylceramide (GL-3) into smaller components that can leave cells and be eliminated from the body or reused.
If your baby has Fabry disease, his or her body is missing or making non-working copies of alpha-Gal A enzymes. When these enzymes are not working correctly, your baby’s body cannot break down GL-3, which causes this harmful substance to build up in lysosomes throughout your baby’s body. This can be toxic.
Fabry disease follows an unusual X-linked recessive pattern of inheritance. In X-linked conditions, the gene is carried on the X sex chromosome, and males are affected more often than females. This means a male must inherit one non-working copy of the gene for Fabry disease from his mother. Typically, a female must inherit two copies of the non-working gene: one from her mother and father. However, carriers of Fabry disease (females having one non-working copy of the gene and one working copy) have been shown to experience the signs and symptoms of Fabry disease more often than expected. Some carriers may show no symptoms, others may have mild symptoms, and others may have severe experiences with the disease in childhood and adulthood.
While having a child with the condition is rare, if one or both parents have the non-working gene for Fabry disease, they can have more than one child with the condition. Learn more about the X-linked recessive pattern of inheritance.
Support for Fabry disease
Support groups can help connect families who have a child or other family member affected with Fabry disease with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.
Work with your baby’s health care provider to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with physicians that specializes in metabolism, kidneys, and pain management; a dietician who can help plan your child’s specialized diet; and other medical resources in your community. Some children with Fabry disease have developmental delays. If you think that your baby is not meeting his or her developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care.
Because Fabry disease is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for Fabry disease, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.