Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
This accumulation occurs in a variety of cell types and can lead to debilitating symptoms such as neurological pain, angiokeratoma, hypohidrosis in childhood, in girls usually a few years later than in boys. With age, progressive damage to the vital organs develops in both sexes that leads to organ failure. End-stage kidney disease and life-threatening cardiovascular or cerebrovascular complications limit life expectancy.
Although the disease is X-linked, most women develop symptoms. Fabry disease is pan-ethnic. Newborn screenings report frequencies of 1 in 22,570 men for the classic phenotype and of 1 in 1,390 men for the late-onset phenotype.1-3
Suspect Fabry disease in case of..
Test the patient, Test the family & Treat early
Up to 5 family members may be diagnosed with Fabry disease for every index patient4
References
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Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30
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Germain D., Fabry Disease. Orphanet encyclopedia, March 2022, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=324
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Ortiz A, Germain DP, Desnick RJ et al. Fabry disease revisited: management and treatment recommendations for adult patients. Molecular genetics and metabolism 123.4 (2018): 416-427
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Laney DA & Fernhoff PM. Diagnosis of Fabry Disease via Analysis of Family History. J Genet Couns. 2008; 17(1):79-83.
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MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001, 38(11):769-775
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Terryn W. Cochat P, Froissart R et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice Nephrol. Dial. Transplant. 2013, 28: 505-517,
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Yousef Z, Elliott PM, Cecchi F et al. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013, 34:802-808,
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Eng CM, Germain DP, Banikazemiet M et al. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539-48
