About Fabry disease
Prevalence of Fabry disease
Fabry disease is a rare condition that occurs in people of all ethnic backgrounds.1 Consequently, accurate measures of disease prevalence have been difficult to obtain. Estimates of 1 in 476,000 to 1 in 117,000 are frequently cited, although reported incidences may largely underestimate the true prevalence.1 Targeted newborn screening studies have suggested potentially much larger figures than previously reported. Two recent large studies demonstrated prevalence of Fabry disease to be 0.012–0.013%.2,3 However, these do not account for the evolving understanding of how genotype leads to incidence and presentation of disease.
This table outlines the prevalence of Fabry disease in populations with specific clinical manifestations, highlighting the relatively significant cardiovascular, cerebrovascular and renal complications of the disease.
|Studies in patients with hypertrophic cardiomyopathy (HCM)|
|Monserrat et al., 20074||508 patients with HCM||1% (0.9% in men, 1.1% in women)|
|Sachdev et al., 20025||153 male patients with HCM||3.9% of males|
|Palecek et al., 20146||100 male patients with unexplained left ventricular hypertrophy||4% of males|
|Chimenti et al., 20047||34 female patients with late-onset HCM||12% of females|
|Studies in patients on renal dialysis|
|Saito et al., 20158||8547 patients (63% male) on dialysis in Japan||0.04% in males, 0% in females|
|Herrera et al., 20149||3650 patients (61% male) on dialysis in Spain||0.18% in males, 0.49% in females|
|Merta et al., 200710||3370 patients (45% male) on haemodialysis in the Czech Republic||0.26% in males, 0.05% in females|
|Studies in young patients with cryptogenic ischaemic stroke|
|Dubuc et al., 201311||100 patients (age 16–55 years)||1% (95% CI: <0.01%, 6%)|
|Wozniak et al., 201012||558 males (42% African American; age 15 to 49 years)||0.18% of all strokes in males; 0.65% of cryptogenic strokes in males|
|Studies in patients with stroke|
|Shi et al., 201413||Systematic review of five studies with 7143 patients. Systematic review of five studies with 1230 patients||0.4% to 2.6% in patients with stroke of any cause. 0.6% to 11.1% in patients with stroke of unknown cause|
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Sawada T, Kido J, Yoshida S, et al. Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Reports. 2020;22:100562.
- Burton BK, Charrow J, Hoganson GE, et al. Newborn screening for lysosomal storage disorders in Illinois: the initial 15-month experience. J Pediatr. 2017;190:130–135.
- Monserrat L, Gimeno-Blanes JR, Marin F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am College Cardio. 2007;50:2399–2403.
- Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407–1411.
- Palecek T, Honzikova J, Poupetova H, et al. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis. 2014;37:455–460.
- Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047–1053.
- Saito O, Kusano E, Akimoto T, et al. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol. 2015;20:284–293.
- Herrera J & Sa Miranda C. Prevalence of Fabry’s disease within hemodialysis patients in Spain. Clinical Nephrology. 2014;81:112–120.
- Merta M, Reiterova J, Ledvinova J, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant. 2007;22:179–186.
- Dubuc V, Moore DF, Gioia LC, et al. Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke. J Stroke Cerebrovasc Dis. 2013;22:1288–1292.
- Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010;41:78–81.
- Shi Q, Chen J, Pongmoragot J, et al. Prevalence of Fabry disease in stroke patients – a systematic review and meta-analysis. J Stroke Cerebrovas Dis. 2014;23:985-992.
Fabry disease pathophysiology and natural history
GLA gene mutations and inheritance