Fabry Disease
Fabry disease is a rare, inherited disorder that causes complex sugar-lipid molecules called glycolipids to build up in in the body’s cells, resulting in abnormal cells and organ dysfunction that particularly affects small blood vessels, the heart, and kidneys. This is due to the absence or reduced activity of an enzyme called alpha-galactosidase A.
Rarediseases.org/fabry-disease
Burning pain in the hands and feet
Decreased sweating
Reddish or dark blue skin rash between the hips and knees
Gastrointestinal problems
Changes in the cornea
Cardiac and Kidney disease
Fabry disease can be recognized by characteristic symptoms, especially in males. Enzyme and genetic testing may be the only way to confirm diagnosis in some patients. Newborn screening studies can help identify many patients early on.
Galafold (migalastat) capsules
Galafold (migalastat)
GALAFOLD is an alpha-galactosidase A (alpha-Gal A) pharmacological chaperone indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.
Patient Resources
National Organization for Rare Disorders (NORD) supports patient advocacy, education, and research.
The National Fabry Disease Foundation (NFDF) is a voluntary organization whose mission is to support the Fabry disease community through education, identification, assistance, research, and advocacy.
The Fabry Support & Information Group (FSIG) is a non-profit organization dedicated to raising awareness of Fabry disease and its symptoms, to advocate for community needs, and to lead the fight for the most effective treatment possible and eventually a cure.
