Genetic and metabolic medicine
Fabry disease
X-linked alpha-galactosidase A deficiency. Childhood burning pain and angiokeratomas, then proteinuric CKD, LVH with a short PR and young stroke. Enzyme testing in men, GLA sequencing in women, and Australian funding (migalastat and pegunigalsidase alfa on the PBS; agalsidase through the LSDP).
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- X-linked lysosomal storage disease from deficiency of alpha-galactosidase A (GLA gene). Gb3 and its deacylated form lyso-Gb3 accumulate in vessels, kidney, heart and nerves.
- Classic disease (no residual enzyme, mostly men) starts in childhood with neuropathic pain. Later-onset variants present in mid-life with isolated LVH or CKD.
- Women are not just carriers. Many have organ disease, sometimes as severe as men's (Brand 2025 consensus).
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Sources
- Guidelines for the treatment of Fabry disease through the Life Saving Drugs ProgramAU/NZAustralian Government Department of Health, Disability and Ageing
- PBS item 15469E: pegunigalsidase alfa (Elfabrio) 20 mg/10 mL injection, Section 100 HSD, Authority Required, Fabry diseaseAU/NZPharmaceutical Benefits Scheme, 2026
- PBS item 14573B: migalastat (Galafold) 123 mg capsule, General Schedule, Authority Required, Fabry diseaseAU/NZPharmaceutical Benefits Scheme, 2026
- New PBS listing for migalastat (Galafold) for the treatment of Fabry diseaseAU/NZAustralian Government Department of Health (PBS news), August 2024
- Biegstraaten M, Arngrímsson R, Barbey F et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis 2015;10:36European Fabry Working Group (Orphanet Journal of Rare Diseases), 2015
- Germain DP, Altarescu G, Barriales-Villa R et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab 2022;137:49-61Molecular Genetics and Metabolism, 2022
- Brand E, Linhart A, Deegan P et al. Clinical management of female patients with Fabry disease based on expert consensus. Orphanet J Rare Dis 2025;20:7Orphanet Journal of Rare Diseases, 2025
- Fabry disease (GeneReviews)University of Washington, Seattle (NCBI Bookshelf)
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Personal emails, About story and Australian-style copy