INTRODUCING
14th International Congress of Inborn Errors of Metabolism (ICIEM)
Transforming Rare Disorders (21–24 November 2021) |READ MORE|
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BROCHURE
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Cardiac considerations for diagnosis
Due to the high prevalence of cardiac involvement, cardiologists are vital in the screening and diagnosis of Fabry disease.|READ MORE|
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BROCHURE
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Neurological considerations for diagnosis
Neurologists can aid an early diagnosis of Fabry disease and document neurological involvement associated with the disease.|READ MORE|
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INTRODUCING
BURDEN OF DISEASE
Fabry disease is a lysosomal storage disorder caused by variants in the GLA gene and is a progressive, life-threatening, multisystemic condition.|READ MORE|
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INTRODUCING
DIFFERENTIAL DIAGNOSIS
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|
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INTRODUCING
DISEASE MANAGEMENT
A multidisciplinary approach to treatment of Fabry disease is recommended.|READ MORE|
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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/INT/FAB/0014; Date of preparation: November 2021
- Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag 2020; 16: 551-558.
- Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008; 17: 79-83.
- Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: Scriver C, Beaudet A, Sly W, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York, NY: McGraw-Hill, 2001.