Lisa Berry, Genetic Counselor at Cincinnati Children’s Hospital, discusses results from Fabry patient survey.



Fabry disease is a rare lysosomal storage disease. This disease is characterized by a deficiency of the enzyme alpha-galactosidase (alpha-GAL). Alpha-GAL helps break down fatty acid, globotriaosylceramide (GL3) . Without enough alpha-GAL, the lysosomes become filled with GL-3 and can not work well. Fabry disease is caused by certain changes in the GLA gene, located on the X chromosome. Symptoms of the disease may include:

  • Episodes of pain, especially in the hands and feet
  • Clusters of small, dark red spots on the skin called angiokeratomas
  • Decreased ability to sweat
  • Cloudiness of the front part of the eye
  • Hearing loss


Internal organs, such as the kidney, heart, or brain may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys.

Survey Results

A survey was conducted with 280 adults with Fabry looking at patient perception of their fabry disease, satisfaction with disease monitoring, and experiences with treatment. Highlights of the results include:

  • Temporary worsening of symptoms 1-4 days prior to next ERT was experienced in 51% of patients currently receiving ERT and 48% previously receiving ERT, with only 48% reporting this to physicians
  • Patients off treatment received less disease monitoring than those on treatment
  • Of the patients with stable lab results and assessments, 82% perceived that their disease was worsening
  • Only 36% of patients reported getting anti-drug antibody (ADA) testing, and a third of those were unsure of their results
  • Greater reporting of symptoms that are seen or felt (i.e., fatigue, pain in hands and feet, GI issues, etc.) versus invisible symptoms (i.e., kidney disease, heart complications, increased risk for stroke)

These results show that it would be beneficial for physicians to better their communication and education with patients. Focusing on opening up a two-way conversation that allows patients to feel comfortable asking questions and discussing their experiences may change the results of this study.

To view the full study, visit

To learn more about Fabry and other rare lysosomal storage diseases, visit