About Fabry Disease
Fabry disease is a rare genetic condition (which can be passed from parent to child) in which an enzyme called α-galactosidase A (ga-lac-TO-si-dase) (GLA) is missing or there is a reduced amount. GLA is needed to break down a type of fat called globotriaosylceramide (Gb3). When GLA is insufficient, Gb3 can build up in blood vessels and tissues in the body and cause kidney, heart, skin, inner ear, and brain complications.
Fabry disease causes many different symptoms, which vary from person to person. Symptoms include constant pain in the hands and feet, sharp pain throughout the body, digestive issues symptoms, fatigue, impaired ability to sweat spotted rash, hearing loss, cloudy cornea in the eye, reduced kidney function and/or kidney failure, stroke, and other neurological problems and heart issues. These symptoms can affect patients' daily activities and impact their quality of life.
There are different treatments available in different countries. Patients with Fabry disease are treated with the available medicine considered most appropriate for them.
Specialists in many different fields may work together to understand how to monitor and treat individual symptoms. The healthcare team may include a neurologist, nephrologist, cardiologist, medical geneticist, genetic counsellor, psychologist, and nurse.¹
Each Person’s Journey With FABRY is Unique
Fabry disease is a rare, underrecognised condition. There can be variability in the age of onset and severity of Fabry. The course of the disease also varies, even among family members with the same mutation. This means patients with Fabry may have a unique journey.
Talking About FABRY Disease
Fabry disease has a profound emotional and physical impact on affected individuals and their families. In order to provide patients with a better understanding of Fabry disease, genetic counseling for patients and their families/partners by a medical geneticist or a counselor with Fabry disease expertise is critical following diagnosis, and forms a vital part of the multidisciplinary approach to the management of Fabry.
References:
- Desnick RJ, et al. Ann Intern Med. 2003;138(4):338-346.
- Di Toro A, et al. J Cardiovasc Med 2018;19(suppl 1):e1–e5.
- Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
- Martins, AM, et al. The Journal of pediatrics. 2009;155(4): S19-S31.
Chiesi’s Fabry Disease Clinical Trials
