Fabry Disease | Symptoms & Causes
What causes Fabry disease in children?
Fabry disease is caused by a mutation in a gene called GLA, which provides instructions for making an enzyme known as alpha-galactosidase A. Lysosomes require this enzyme to properly break down large fat molecules inside the body’s cells.
Fabry disease is a genetic condition. Affected children have a mutated gene on the X chromosome, one of two sex chromosomes contained in each cell. In males, who have a single X chromosome in addition to a Y chromosome in each of their cells, a defective copy of the GLA gene is sufficient to cause Fabry disease. In females, who have two X chromosomes, a defective copy of the GLA gene on both of their X chromosomes will manifest as Fabry disease. The combination of a typical GLA gene on one X chromosome and a mutated GLA gene on the other X chromosome in females may result in less severe symptoms of Fabry disease. In rare cases, a female with one mutated GLA gene may have no signs or symptoms of Fabry disease. These women are called carriers, meaning their children can inherit the condition even though they have no visible symptoms.
What are the symptoms of Fabry disease?
Signs and symptoms some children with Fabry disease may experience include:
- episodes of pain in the hands and feet (acroparesthesias)
- dark red spots on the skin (angiokeratomas)
- decreased ability to sweat (hypohidrosis)
- cloudiness in the front part of the eye (corneal opacity)
- stomach problems
- ringing in the ears (tinnitus)
- hearing loss
- kidney damage
- heart complications
- stroke
Fabry Disease | Diagnosis & Treatments
How do we treat Fabry disease?
Current approaches to Fabry disease are tailored to specific patients and may include enzyme replacement therapy (ERT), targeted symptom management and medication designed to increase alpha-galactosidase activity. Management plans require interdisciplinary collaboration and depend greatly on a patient’s specific disease presentation, age, and a variety of additional factors.
How we care for Fabry disease
At the Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with Fabry disease.
