Interdisciplinary approach towards female patients with Fabry disease

European Journal of Clinical Investigation

Volumn 42, Issue 4, 2012, Pages 455-462

  Weidemann, Frank ^a   Niemann, Markus ^a   Sommer, Claudia ^a   Beer, Meinrad ^a   Breunig, Frank ^a   Wanner, Christoph ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

Diagnostic; Fabry disease; Lysosomal storage disorder; Therapy; Women

Indexed keywords

ALBUMINURIA; BRAIN DAMAGE; DIAGNOSTIC TEST; ECHOCARDIOGRAPHY; EDEMA; ELECTROCARDIOGRAPHY; FABRY DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HUMAN; KIDNEY FUNCTION TEST; NEPHROLOGY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; SEX DIFFERENCE; STRESS;

ADULT; ALPHA-GALACTOSIDASE; BRAIN DISEASES; CARDIOMYOPATHIES; FABRY DISEASE; FEMALE; GLYCOSPHINGOLIPIDS; HUMANS; KIDNEY DISEASES; MIDDLE AGED; PATIENT CARE TEAM; SEVERITY OF ILLNESS INDEX; TRIHEXOSYLCERAMIDES; YOUNG ADULT;

EID: 84858281233     PISSN: 00142972     EISSN: 13652362     Source Type: Journal    
DOI: 10.1111/j.1365-2362.2011.02614.x     Document Type: Review

References (30)

1. Desnick R, Ionnou Y, Eng C. Fabry disease: alpha galactosidase A deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill, 1995: Pp 2741-84.
2. Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K. Evidence for preferential X-chromosome inactivation in a family with Fabry disease. Am J Hum Genet 1977;29:361-70.
3. Moller AT, Bach FW, Feldt-Rasmussen U, Rasmussen AK, Hasholt L, Sommer C et al. Autonomic skin responses in females with Fabry disease. J Peripher Nerv Syst 2009;14:159-64.
4. Moller AT, Feldt-Rasmussen U, Rasmussen AK, Sommer C, Hasholt L, Bach FW et al. Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin. J Peripher Nerv Syst 2006;11:119-25.
5. Fellgiebel A, Müller MJ, Mazanek M, Baron K, Beck M, Stoeter P. White matter lesion severity in male and female patients with Fabry disease. Neurology 2005;65:600-2.
6. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009;40:788-94.
7. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-28.
8. Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 2007;9:34-45.
9. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002;40:1668-74.
10. Weidemann F, Wanner C, Breunig F. Nomen est omen. Fabry disease. Eur J Echocardiogr 2008;9:831-2.
11. Weidemann F, Breunig F, Beer M, Sandstede J, Stork S, Voelker W et al. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 2005;26:1221-7.
12. Gal A, Schafer E, Rohard I. The genetic basis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis, 2006, Chapter 33: pp 65-72.
13. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007;28:1228-35.
14. Altarescu G, Chicco G, Whybra C, Delgado-Sanchez S, Sharon N, Beck M et al. Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease. J Inherit Metab Dis 2008;31:117-23.
15. Kalliokoski RJ, Kalliokoski KK, Penttinen M, Kantola I, Leino A, Viikari JS et al. Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis 2006;29:660-6.
16. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005;96:842-6.
17. Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 2008;51:50-9.
18. Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M et al. Differences in Fabry cardiomyopathy between female and male patients consequences for diagnostic assessment. JACC Cardiovasc Imaging 2011;4:592-601.
19. Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Stork S et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009;119:524-9.
20. Oqvist B, Brenner BM, Oliveira JP, Ortiz A, Schaefer R, Svarstad E et al. Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol Dial Transplant 2009;24:1736-43.
21. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11.
22. Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008;23:1600-7.
23. Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol 2010;5:2220-8.
24. Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med 2009;11:441-9.
25. Reisin RC, Romero C, Marchesoni C, Napoli G, Kisinovsky I, Caceres G et al. Brain MRI findings in patients with Fabry disease. J Neurol Sci 2011;305:41-4.
26. Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007;130:143-50.
27. Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med 2006;8:346-53.
28. Weidemann F, Sommer C, Duning T, Lanzl I, Mohrenschlager M, Naleschinski D et al. Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge. Am J Med 2010;123:658 e651-658 e610.
29. Weidemann F, Niemann M, Warnock DG, Ertl G, Wanner C. The Fabry cardiomyopathy: models for the cardiologist. Annu Rev Med 2011;62:59-67.
30. Wu X, Katz E, Valle CD, Mascioli K, Flanagan J, Castelli JP et al. A pharmacogenetic approach to identify mutant forms of alpha-galactosidase a that respond to a pharmacological chaperone for Fabry disease. Hum Mutat 2011;32:965-77.