INTRODUCING
Fabry disease is a lysosomal storage disorder caused by variants in the GLA gene and is a progressive, life-threatening, multisystemic condition.|READ MORE|
INTRODUCING
Fabry disease is a multisystemic disorder with a range of signs and symptoms, and should be considered in the differential diagnosis of many systemic diseases. |READ MORE|
INTRODUCING
A multidisciplinary approach to treatment of Fabry disease is recommended.|READ MORE|
FEATURED ARTICLE
Fabry disease is a rare, multisystemic, lysosomal storage disorder caused by variants in the GLA gene, which is located on the X chromosome. The GLA gene encodes the enzyme alpha-galactosidase A (α-Gal A).1 Fabry disease is estimated to affect approximately 1 in 40,000 males and approximately 1 in 20,000 females.2,3 This website provides educational resources intended for healthcare professionals outside of the US and UK with an interest in Fabry disease. It aims to share scientific advances in Fabry disease research and provide expert opinions and medical education to support the healthcare professional community.
C-ANPROM/SG/FAB/0023; Date of preparation: February 2022
Brochure
Following a diagnosis of Fabry disease, it is recommended that a thorough pedigree analysis is performed for each patient to identify any family members at risk of the disease.
DIFFERENTIAL DIAGNOSIS
MEETINGS & EVENTS
The WORLDSymposium™ was held as a virtual meeting this year (7‒12 February 2021) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases. Summaries from the meeting, including reports with a specific focus on Fabry disease
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Due to the high prevalence of cardiac involvement in patients with Fabry disease, cardiologists are vital in the screening and diagnosis of the disease. Cardiologists are recommended to maintain an awareness of Fabry disease.
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Events
Transforming Rare Disorders (21–24 November 2021)