Division-related function and organ-related therapy in Fabry's disease. An interdisciplinary challenge;Fachspezifische aufgabe und organspezifische therapie beim morbus Fabry. Eine interdisziplinäre herausforderung

Medizinische Klinik

Volumn 104, Issue 1, 2009, Pages 10-19

  Weidemann, Frank ^a,g   Sommer, Claudia ^a   Duning, Thomas ^b   Lanzl, Ines ^c   Möhrenschlager, Matthias ^d   Naleschinski, Dennis ^e   Baron, Ralf ^e   Breunig, Frank ^a   Schaefer, Roland ^b   Strotmann, Jörg ^f   Wanner, Christoph ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f Stadtisches Krankenhaus Kiel   (Germany)

^g UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Diagnostics; Fabry's disease; Therapy

Indexed keywords

ACETYLSALICYLIC ACID; ANGIOTENSIN RECEPTOR ANTAGONIST; ANTIHYPERTENSIVE AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CLOPIDOGREL; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIPYRIDAMOLE; DIURETIC AGENT; GLOBOTRIAOSYLCERAMIDE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; PHENPROCOUMON; SEROTONIN NORADRENALIN REUPTAKE INHIBITOR; SEROTONIN UPTAKE INHIBITOR;

CENTRAL NERVOUS SYSTEM; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; FABRY DISEASE; HUMAN; KIDNEY BIOPSY; LYSOSOME STORAGE DISEASE; PERIPHERAL NERVOUS SYSTEM; REVIEW;

EID: 58749084315     PISSN: 07235003     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00063-009-1003-0     Document Type: Review

References (57)

1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-46.
2. Wanner C. Fabry disease model: a rational approach to the management of Fabry disease. Clin Ther 2007;29:Suppl A:S2-5.
3. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
4. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9.
5. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007;146:77-86.
6. Kampmann C, Baehner F, Whybra C, et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002;40:1668-74.
7. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007;93:528-35.
8. Weidemann F, Breunig F, Beer M, 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.
9. Weidemann F, Wanner C, Breunig F. Nomen est omen. Eur J Echocardiogr 2008;9:831-2.
10. Beer G, Reinecke P, Gabbert HE, et al. Fabry dis ease in patients with hypertrophic cardiomyopathy (HCM). Z Kardiol 2002;91:992-1002.
11. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-93.
12. Moon JC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003;24:2151-5.
13. Weidemann F, Strotmann JM, Breunig F, et al. Misleading terms in Anderson-Fabry disease. Eur J Clin Invest 2008;38:191-6.
14. Pieroni M, Chimenti C, Ricci R, et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003;107:1978-84.
15. Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108:1299-301.
16. Shah JS, Hughes DA, Sachdev B, 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, 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. Beer M, Weidemann F, Breunig F, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol 2006;97:1515-8.
19. Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 2008;94:153-8.
20. Radford MJ, Arnold JM, Bennett SJ, et al. ACC/AHA key data elements and definitions for measuring the clinical management and outcomes of patients with chronic heart failure: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Heart Failure Clinical Data Standards): developed in collaboration with the American College of Chest Physicians and the International Society for Heart and Lung Transplantation: endorsed by the Heart Failure Society of America. Circulation 2005;112:1888-916.
21. Whitley CB, Tsai MY, Heger JJ, et al. Amiodarone phenocopy of Fabry's keratopathy. JAMA 1983;249:2177-8.
22. Ortiz A, Oliveira JP, Waldek S, et al. 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. Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003;64:801-7.
24. Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004;15:1323-9.
25. Ries M, Ramaswami U, Parini R, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003;162:767-72.
26. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-48.
27. Remuzzi G, Schieppati A, Ruggenenti P. Clinical practice. Nephropathy in patients with type 2 diabetes. N Engl J Med 2002;346:1145-51.
28. Fellgiebel A. Stroke and brain structural alterations in Fabry disease. Clin Ther 2007;29:Suppl A: S9-10.
29. Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-9.
30. Fellgiebel A, Müller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006;5:791-5.
31. Moore DF, Ye F, Schiffmann R, et al. Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003;24:1096-101.
32. Albrecht J, Dellani PR, Muller MJ, et al. Voxel based analyses of diffusion tensor imaging in Fabry disease. J Neurol Neurosurg Psychiatry 2007;78:964-9.
33. Fellgiebel A, Albrecht J, Dellani PR, et al. Quantification of brain tissue alterations in Fabry disease using diffusion-tensor imaging. Acta Paediatr Suppl 2007;96:33-6.
34. Fellgiebel A, Mazanek M, Whybra C, et al. Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 2006;253:780-7.
35. Ramaswami U. Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa. Acta Paediatr Suppl 2008;97:38-40.
36. Lacomis D. Small-fiber neuropathy. Muscle Nerve 2002;26:173-88.
37. Hilz MJ. Evaluation of peripheral and autonomic nerve function in Fabry disease. Acta Paediatr Suppl 2002;91:38-42.
38. Rolke R, Baron R, Maier C, et al. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardized protocol and reference values. Pain 2006;123:231-43.
39. Maag R, Binder A, Maier C, et al. Detection of a characteristic painful neuropathy in Fabry disease: a pilot study. Pain Med 2009:in press.
40. Luciano CA, Russell JW, Banerjee TK, et al. Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve 2002;26:622-9.
41. Dutsch M, Marthol H, Stemper B, et al. Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002;19:575-86.
42. Yamamoto K, Sobue G, Iwase S, et al. Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response. Clin Auton Res 1996;6:107-10.
43. Kang WH, Chun SI, Lee S. Generalized anhidrosis associated with Fabry's disease. J Am Acad Dermatol 1987;17:883-7.
44. Kato H, Sato K, Hattori S, et al. Fabry's disease. Intern Med 1992;31:682-5.
45. Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92.
46. Schiffmann R, Floeter MK, Dambrosia JM, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003;28:703-10.
47. Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004;62:1066-72.
48. Baron R, Sommer C, Tölle TR, et al. Diagnostik und Therapie neuropathischer Schmerzen. In: Diener HC, Putzki N, Hrsg. Leitlinien für Diagnostik und Therapie in der Neurologie, 4. Aufl. Stuttgart: Thieme, 2009:im Druck.
49. Lockman LA, Hunninghake DB, Krivit W, et al. Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 1973;23:871-5.
50. Gordon KE, Ludman MD, Finley GA. Successful treatment of painful crises of Fabry disease with low dose morphine. Pediatr Neurol 1995;12:250-1.
51. Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 2005;85:255-9.
52. Francois J. [Ocular manifestations in various congenital errors of metabolism (homocystinuria, Fabry's glycolipidosis).] Bull Soc Ophtalmol Fr 1967;67:1001-17.
53. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol 1979;97:671-6.
54. Odusola F. Chewing gum as aid in treatment of hyposalivation. N Y State Dent J 1991;57:28-31.
55. Möhrenschlager M, Ring J, Abeck D. Options in the treatment of Fabry disease. Pediatr Dermatol 2003;20:373-4.
56. Möhrenschlager M, Ring J, Abeck D. Skin manifestations of Fabry disease. JAMA 2001;286:1315.
57. Lapins J, Emtestam L, Marcusson JA. Angiokeratomas in Fabry's disease and Fordyce's disease: successful treatment with copper vapour laser. Acta Derm Venereol (Stockh) 1993;73:133-5.