Fabry disease: management
Evidence-based neurology checklist on fabry disease: management: Blood tests Alpha galactosidase: this is deficient in white cells, fibroblasts, and plasma DNA analysis: this is done if the alpha galactosidase level is normal or mildly reduced Magnetic resonance imaging (MRI) brain Magnetic…
Blood tests
- Alpha galactosidase: this is deficient in white cells, fibroblasts, and plasma
- DNA analysis: this is done if the alpha galactosidase level is normal or mildly reduced
Magnetic resonance imaging (MRI) brain
Magnetic resonance spectroscopy (MRS)
Slit lamp examination findings
Other investigations
Treatment of crises
Chaperone therapy: Migalastat
Enzyme replacement therapy
References
- MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750-760.
- Kolodny EH, Pastores GM. Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Society Nephrol 2002; 13:S150-as153.
- Ginsberg L, Valentine A, Mehta A. Fabry disease. Pract Neurol 2005; 5:110-113.
- Fellgiebel A, Muller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006; 5:791-795.
- Chong PF, Nakamura K, Kira R. Mulberries in the urine: a tell-tale sign of Fabry disease. J Inherit Metab Dis 2018; doi: 10.1007/s10545-018-0155-6 (Epub ahead of print).
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