Fabry's Disease

Fabry's Disease: An Overview

Fabry's Disease, also known as Anderson-Fabry disease, is a rare inherited metabolic disorder. Characterized by the buildup of a specific type of fat (globotriaosylceramide) in the body’s cells, this condition can cause organ and tissue damage, most often to the kidney, heart, and nervous system. The first signs of Fabry's Disease usually appear in childhood, and range from burning sensations in the feet and hands to gastrointestinal problems. Diagnosis and treatment for Fabry's Disease can be complicated, but early intervention and treatment can help prevent long-term complications.

What causes Fabry's Disease?

Fabry’s Disease is caused by a genetic mutation in the gene that codes for an enzyme needed to break down globotriaosylceramide (Gb3). If the gene is mutated, the enzyme (alpha-galactosidase A) cannot work as it should, leading to the build-up of Gb3 in the body’s cells. People with Fabry’s Disease have children who inherit their mutation, and thus are also at risk for the disease.

What are the Symptoms of Fabry's Disease?

The symptoms of Fabry's Disease can vary widely, depending on a person's age, gender, and other factors. Common symptoms include:

  • Painful burning, numbing, and tingling sensations in hands and feet
  • Vision problems
  • Gastrointestinal problems
  • Headache
  • Shortness of breath
  • Fatigue
  • Heart palpitations

How is Fabry's Disease Diagnosed and Treated?

Fabry's Disease is typically diagnosed through a physical exam, along with blood and urine tests. Genetic testing can also be used to confirm the diagnosis of Fabry's Disease. Treatment for Fabry's Disease is available, but varies personalized to the individual and their specific symptoms. Management of this condition often includes medications to reduce the pain and inflammation, lifestyle changes, and regular medical monitoring.