Irish Journal of Medical Science (1971 -)

, Volume 187, Issue 1, pp 189–192 | Cite as

Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent’s University Hospital over a 6-month period

  • J. LambeEmail author
  • I. Noone
  • R. Lonergan
  • N. Tubridy
Brief Report



Fabry disease is an X-linked recessive lysosomal storage disorder that provokes multi-organ morbidity, including early-onset stroke. Worldwide prevalence may be greater than previously estimated, with many experiencing first stroke prior to diagnosis of Fabry disease.


The aim of this study is to screen a cohort of stroke patients under 70 years of age, evaluating the clinical and economic efficacy of such a broad screening programme for Fabry disease.


All stroke patients under 70 years of age who were entered into the Saint Vincent’s University Hospital stroke database over a 6-month period underwent enzyme analysis and/or genetic testing as appropriate for Fabry disease. Patients’ past medical histories were analysed for clinical signs suggestive of Fabry disease. Cost-effectiveness analysis of testing was performed and compared to overall economic impact of young stroke in Ireland.


Of 22 patients tested for Fabry disease, no new cases were detected. Few clinical indicators of Fabry disease were identified at the time of testing.


Broad screening programmes for Fabry disease are highly unlikely to offset the cost of testing. The efficacy of future screening programmes will depend on careful selection of an appropriate patient cohort of young stroke patients with multi-organ morbidity and a positive family history.



Fabry testing was funded by Shire Pharmaceuticals Ireland. The authors wish to thank Lou Donovan in particular for her assistance in facilitation of testing.

Compliance with ethical standards

Informed consent was obtained from all individual participants included in the study. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Competing interests

The authors declare that they have no conflict of interest.


  1. 1.
    Barbey F, Hayoz D, Widmer U et al (2004) Efficacy of enzyme replacement therapy in Fabry disease. Curr Med Chem- Cardiovascular and hematological agents 2:277–286. doi: 10.2174/1568016043356192 CrossRefPubMedGoogle Scholar
  2. 2.
    Mehta A, Ginsberg L (2005) Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 94(S447):24–27. doi: 10.1080/08035320510028076 CrossRefGoogle Scholar
  3. 3.
    Linhart A, Elliot PM (2007) The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93:528–535. doi: 10.1136/hrt.2005.063818 CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Sims K, Politei J, Banikazemi M et al (2009) Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events. Natural history data from the Fabry registry. Stroke 40:788–794. doi: 10.1161/STROKEAHA.108.526293 CrossRefPubMedGoogle Scholar
  5. 5.
    Thadhani R, Wolf M, West ML et al (2002) Patients with Fabry disease on dialysis in the United States. Kidney Int 61:249–255. doi: 10.1046/j.1523-1755.2002.00097.x CrossRefPubMedGoogle Scholar
  6. 6.
    Guercini F, Acciarresi M, Agnelli G et al (2008) Cryptogenic stroke: time to determine aetiology. J Thromb Haemost 6:549–554. doi: 10.1111/j.1538-7836.2008.02903.x CrossRefPubMedGoogle Scholar
  7. 7.
    Rolfs A, Bottcher T, Zschiesche M et al (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366(9499):1794–1796. doi: 10.1016/S0140-6736(05)67635-0 CrossRefPubMedGoogle Scholar
  8. 8.
    Eng CM, Fletcher J, Wilcox WR et al (2007) Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry. J Inherit Metab Dis 30(2):184–192. doi: 10.1007/s10545-007-0521-2 CrossRefPubMedGoogle Scholar
  9. 9.
    Altarescu G, Moore DF, Schiffmann R (2005) Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 64(12):2148–2150. doi: 10.1212/01.WNL.0000166000.24321.4F CrossRefPubMedGoogle Scholar
  10. 10.
    Ellaway C (2016) Paediatric Fabry disease. Transl Pediatr 5(1):37–42. doi: 10.3978/j.issn.2224-4336.2015.12.02 PubMedPubMedCentralGoogle Scholar
  11. 11.
    Bouwman MG, de Ru MH, Linthorst GE et al (2013) Fabry patients’ experiences with the timing of diagnosis relevant for the discussion on newborn screening. Mol Genet Metab 109:201–207. doi: 10.1016/j.ymgme.2013.03.008 CrossRefPubMedGoogle Scholar
  12. 12.
    Banikazemi M, Bultas J, Waldek S et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77–86. doi: 10.7326/0003-4819-146-2-200701160-00148 CrossRefPubMedGoogle Scholar
  13. 13.
    Najafian B, Mauer M, Hopkin RJ et al (2013) Renal complications of Fabry disease in children. Pediatr Nephrol 28:679–687. doi: 10.1007/s00467-012-2222-9 CrossRefPubMedGoogle Scholar
  14. 14.
    Tøndel C, Bostad L, Larsen KK et al (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24:137–148. doi: 10.1681/ASN.2012030316 CrossRefPubMedGoogle Scholar
  15. 15.
    Borgwardt L, Feldt-Rasmussen U, Rasmussen AK et al (2013) Fabry disease in children: agalsidase-beta enzyme replacement therapy. Clin Genet 83:432–438. doi: 10.1111/j.1399-0004.2012.01947.x CrossRefPubMedGoogle Scholar
  16. 16.
    Ramaswami U (2011) Update on role of agalsidase alfa in management of Fabry disease. Drug Des Devel Ther 5:155–173. doi: 10.2147/DDDT.S11985 CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Ramaswami U, Parini R, Pintos-Morell G et al (2012) Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey. Clin Genet 81:485–490. doi: 10.1111/j.1399-0004.2011.01671.x CrossRefPubMedGoogle Scholar
  18. 18.
    Meikle PJ, Hopwood JJ, Clague AE et al (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254. doi: 10.1001/jama.281.3.249 CrossRefPubMedGoogle Scholar
  19. 19.
    Sachdev B, Takenaka T, Teraguchi H et al (2002) Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105:1407–1411. doi: 10.1161/01.CIR.0000012626.81324.38 CrossRefPubMedGoogle Scholar
  20. 20.
    Nakao S, Takenaka T, Maeda M et al (1995) An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 333:288–293. doi: 10.1056/NEJM199508033330504 CrossRefPubMedGoogle Scholar
  21. 21.
    Smith S et al (2012) The cost of stroke and transient ischaemic attack in Ireland: a prevalence-based estimate. Age Ageing 41(3):332–338. doi: 10.1093/ageing/afr141 CrossRefPubMedGoogle Scholar
  22. 22.
    Bersano A et al (2016) Clinical pregenetic screening for stroke monogenic diseases: results from Lombardia GENS registry. Stroke 47(7):1702–1709. doi: 10.1161/STROKEAHA.115.012281 CrossRefPubMedGoogle Scholar

Copyright information

© Royal Academy of Medicine in Ireland 2017

Authors and Affiliations

  1. 1.Department of NeurologySaint Vincent’s University HospitalDublinIreland
  2. 2.Department of StrokeSaint Vincent’s University HospitalDublinIreland

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