Fabry disease: proposed guidelines for its diagnosis, treatment and follow-up;Maladie de Fabry : propositions d'un groupe d'experts français concernant le diagnostic, le traitement et le suivi des patients

Presse Medicale

Volumn 36, Issue 7-8, 2007, Pages 1084-1097

  Lidove, Olivier ^a,b   Bekri, Soumeya ^c   Goizet, Cyril ^d,e   Khau Van Kien, Aurélie ^f   Aractingi, Sélim ^g   Knebelmann, Bertrand ^h   Choukroun, Gabriel ⁱ   Tsimaratos, Michel ^j   Redonnet Vernhet, Isabelle ^e   Lacombe, Didier ^d   Jaussaud, Roland ^k  

^a Hopital Bichat   (United States)

^b BEAUJON HOSPITAL   (France)

^c HÔPITAL CHARLES NICOLLE   (France)

^d Centre des Maladies Moléculaires

^e HÔPITAL PELLEGRIN   (France)

^f HÔPITAL SAINT ELOI   (France)

^g HÔPITAL TENON   (France)

^h Hopital Necker   (United States)

ⁱ AMIENS UNIVERSITY HOSPITAL   (France)

^j TIMONE HOSPITAL   (France)

^k SERVICE DE DERMATOLOGIE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; CARBAMAZEPINE; GABAPENTIN; GLYCOSPHINGOLIPID; HYDROLASE; PHENYTOIN; ISOENZYME;

ABDOMINAL PAIN; ADULT; AGED; ANAPHYLAXIS; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL FEATURE; DYSPNEA; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; FAMILIAL DISEASE; FEMALE; FOLLOW UP; GENE MUTATION; GENEALOGY; GENETIC ANALYSIS; HEART DISEASE; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; HYPOTENSION; KIDNEY DISEASE; LARYNX EDEMA; LARYNX STENOSIS; LIFE EXPECTANCY; LIPID METABOLISM; MALE; NAUSEA; PALLIATIVE THERAPY; PARESTHESIA; PROGNOSIS; RARE DISEASE; SHORT SURVEY; SYMPTOMATOLOGY; SYSTEMIC DISEASE; TREATMENT INDICATION; TREATMENT OUTCOME; URTICARIA; VOMITING; AFTERCARE; BIOPSY; DIFFERENTIAL DIAGNOSIS; FRANCE; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HOSPITALIZATION; METHODOLOGY; MUTATION; PEDIGREE; PRACTICE GUIDELINE; PREVALENCE; QUALITY OF LIFE; REVIEW; SEX RATIO; STANDARD;

AFTERCARE; ALPHA-GALACTOSIDASE; BIOPSY; DIAGNOSIS, DIFFERENTIAL; EARLY DIAGNOSIS; FABRY DISEASE; FEMALE; FRANCE; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HUMANS; ISOENZYMES; LIFE EXPECTANCY; MALE; MUTATION; PEDIGREE; PRACTICE GUIDELINES; PREVALENCE; PROGNOSIS; QUALITY OF LIFE; RARE DISEASES; SEVERITY OF ILLNESS INDEX; SEX DISTRIBUTION;

EID: 34347260990     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2007.01.006     Document Type: Short Survey

References (67)

1. Desnick R.J., loannou Y.A., and Eng C.M. a galactosidase A deficiency : Fabry disease. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Kinzler K.E., Vogelstein, and B (Eds). The Metabolic and Molecular Bases of Inherited Diseases, 8th ed (2001), Mc Graw-Hill, New York 3733-3774
2. MacDermot K.D., Holmes A., and Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38 (2001) 750-760
3. MacDermot K.D., Holmes A., and Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38 (2001) 769-775
4. Branton M.H., Schiffmann R., Sabnis S.G., Murray G.J., Quirk J.M., Altarescu G., et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81 (2002) 122-138
5. Meikle P.J., Hopwood J.J., Clague A.E., and Carey W.F. Prevalence of lysosomal storage disorders. JAMA 281 (1999) 249-254
6. Nakao S., Takenaka T., Maeda M., Kodama C., Tanaka A., Tahara M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
7. European Public Assessment Report for Replagal. London: European Agency for the Evaluation of Medicinal Products, 2001 http://www.eudra.org/humandocs/Humans/EPAR/replagal/replagal.htm.
8. European Public Assessment Report for Fabrazyme. London: European Agency for the Evaluation of Medicinal Products, 2001. http://www.eudra.org/humandocs/Humans/EPAR/fabrazyme/fabrazyme.htm.
9. www.dh.gov.uk/assetRoot/04/11/84/08/04118408.pdf.
10. http://iier.isciii.es/er/rec/er_973a.pdf.
11. www.health.gov.au/internet/wcms/publishing.nsf/Content/health-pbs-genera l-supply-othersupply-copy2/$FILE/fabryguide.pdf.
12. Penttinen M., Kantola I., Nuutila P., Hietaharju A., Honkanen E., Kaitila I., et al. Fabry's disease, recommendation for diagnostics, follow up and treatment in Finland. Duodecim 120 (2004) 2407-2414
13. Rosenthal D., Lien Y.H., Lager D., Lai L.W., Shang S., Leung N., et al. A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease. Am J Kidney Dis 44 (2004) e85-e89
14. Mohrenschlager M., Braun-Falco M., Ring J., and Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 4 (2003) 189-196
15. Lidove O., Ramaswami U., Jaussaud R., Barbey F., Maisonobe T., Caillaud C., et al. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from FOS - the Fabry Outcome Survey. Int J Clin Pract 60 (2006) 1053-1059
16. Glass R.B., Astrin K.H., Norton K.I., Parsons R., Eng C.M., Banikazemi M., et al. Fabry disease : renal sonographic and magnetic resonance imaging findings in affected males and carrier females with classic and cardiac variant phenotypes. J Comput Assist Tomogr 28 (2004) 158-168
17. Lidove O., Iung B., Brochet E., Himbert D., Deliu F., Laissy J.P., et al. Cœur et maladie de Fabry. Med Thérap 2 (2006) 355-365 (cardio)
18. Mitsias P., and Levine S.R. Cerebrovascular complications of Fabry's disease. Ann Neurol 40 (1996) 8-17
19. Grewal R.P. Psychiatric disorders in patients with Fabry's disease. Int J Psychiatry Med 23 (1993) 307-312
20. Germain D.P., Avan P., Chassaing A., and Bonfils P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 3 (2002) 10
21. Hajioff D., Enever Y., Quiney R., Zuckerman J., Mackermot K., and Mehta A. Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. J Inherit Metab Dis 26 (2003) 787-794
22. Brown L.K., Miller A., Bhuptani A., Sloane M.F., Zimmennan M.I., Schilero G., et al. Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med 155 (1997) 1004-1010
23. Gold K.F., Pastores G.M., Botteman M.F., Yeh J.M., Sweeney S., Aliski W., et al. Quality of life of patients with Fabry disease. Qual Life Res 11 (2002) 317-327
24. Miners A.H., Holmes A., Sherr L., Jenkinson C., and MacDermot K.D. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual Life Res 11 (2002) 127-133
25. Desnick R.J., Allen K.Y., Desnick S.J., Raman M.K., Bernlohr R.W., and Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81 (1973) 157-171
26. Shabbeer J., Robinson M., and Desnick R.J. Detection of alpha-galactosidase A mutations causing fabry disease by denaturing high performance liquid chromatography. Hum Mutat 25 (2005) 299-305
27. Gross E., Arnold N., Goette J., Schwarz-Boeger U., and Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum Genet 105 (1999) 72-78
28. Choy Y.S., Dabora S.L., Hall F., Ramesh V., Niida Y., Franz D., et al. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet 63 (1999) 383-391
29. Rodriguez-Mari A., Coll M.J., and Chabas A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 22 (2003) 258
30. Shabbeer J., Yasuda M., Benson S.D., and Desnick R.J. Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2 (2006) 297-309
31. Zeidner K.M., Desnick R.J., and Ioannou Y.A. Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem 267 (1999) 104-113
32. Mills K., Johnson A., and Winchester B. Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett 515 (2002) 171-176
33. Roddy T.P., Nelson B.C., Sung C.C., Araghi S., Wilkens D., Zhang X.K., et al. Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem 51 (2005) 237-240
34. Wilcox W.R., Banikazemi M., Guffon N., Waldek S., Lee P., Linthorst G.E., et al., International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Human Genet. 75 (2004) 65-74
35. Young E., Mills K., Morris P., Vellodi A., Lee P., Waldek S., et al. Is globotriaosylceramide a useful biomarker in Fabry disease?. Acta Paediatr Suppl 94 (2005) 51-54
36. Fuller M., Sharp P.C., Rozaklis T., Whitfield P.D., Blacklock D., Hopwood J.J., et al. Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes. Clin Chem 51 (2005) 688-694
37. Kitagawa T., Ishige N., Suzuki K., Owada M., Ohashi T., Kobayashi M., et al. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 85 (2005) 196-202
38. Mills K., Morris P., Lee P., Vellodi A., Waldek S., Young E., et al. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 28 (2005) 35-48
39. Redonnet-Vernhet I., Ploos van Amstel J.K., Jansen R.P., Wevers R.A., Salvayre R., and Levade T. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet 33 (1996) 682-688
40. Dobrovolny R., Dvorakova L., Ledvinova J., Magage S., Bultas J., Lubanda J.C., et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 83 (2005) 647-654
41. Lacombe D. Faut-il faire des tests présymptomatiques chez l'enfant pour des maladies à révélation tardive?. Arch Pediatr 10 (2003) 71s-89s
42. Borry P., Fryns J.P., Schotsmans P., and Dierickx K. Attitudes toward carrier testing in minors : A systematic review. Genet Counsel. 16 (2005) 341-352
43. Dobrovolny R., Dvorakova L., Ledvinova J., Magage S., Bultas J., Lubanda J.C., et al. Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation. Am J Med Genet 134 (2005) 84-87
44. Lenoir G., Rivron M., Gubler M.C., Dufier J.L., Tome F.S.M., and Guivarch M. La Maladie de Fabry: Traitement du syndrome acrodyniforme par la Carbamazepine. Arch Franç Péd. 34 (1977) 704-716
45. Ries M., Mengel E., Kutschke G., Kim K.S., Birklein F., Krummenauer F., et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 26 (2003) 413-414
46. Lockman L.A., Hunninghake D.B., Krivit W., and Desnick R.J. Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 23 (1973) 871-875
47. PROGRESS Collaborative group. Randomised trial of a perindopril-based blood-pressure-lowering regimen among 6105 individuals with previous stroke or transient ischaemic attack. Lancet 358 (2001) 1033-1041
48. Tsakiris D., Simpson H.K.L., Jones E.H.P., Briggs J.D., Elinder C.G., Mendel S., et al. Rare diseases in renal replacement therapy in the ERA-EDTA registry. Nephrol Dial Transplant 11 (1996) 4-20
49. Thadhani R., Wolf M., West M.L., Tonelli M., Ruthazer R., Pastores G.M., et al. Patients with Fabry disease on dialysis in the United States. Kidnet Int. 61 (2002) 249-255
50. Inderbitzin D., Avital I., Largiader F., Vogt B., and Candinas D. Kidney transplanatation improves survival and is indicated in Fabry's disease. Transplant Proc 37 (2005) 4211-4214
51. http://www.emea.eu.int/humandocs/Humans/EPAR/replagal/replagal.htm.
52. http://www.emea.eu.int/humandocs/Humans/EPAR/fabrazyme/fabrazyme.htm.
53. Schiffmann R., Kopp J.B., Austin H.A., Sabnis S., Moore D.F., Weibel T., et al. Enzyme replacement therapy in Fabry disease. JAMA 285 (2001) 2743-2749
54. Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldek S., et al. Safety and efficacy of recombinant human a-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
55. Lidove O., Joly D., Barbey F., Bekri S., Alexandra J.F., Peigne V., et al. Clinical results of enzyme replacement therapy in Fabry disease : a comprehensive review of literature. Int J Clin Pract (2006) (sous presse)
56. Milligan A., Hughes D., Goodwin S., Richfield L., and Mehta A. Intravenous enzyme replacement therapy: better in home or hospital?. Br J Nurs 15 (2006) 330-333
57. Wendt S., Whybra C., Kampmann C., Teichmann E., and Beck M. Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. J Inherit Metab Dis 28 (2005) 787-788
58. Whybra C., Kampmann C., Willers I., Davies J., Winchester B., Kriegsmann J., et al. Anderson-Fabry disease : clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 24 (2001) 715-724
59. Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
60. Deegan P., Baehner A.F., Barba-Romero M.A., Hughes D., Kampmann C., and Beck M. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43 (2006) 347-352
61. Gupta S., Ries M., Kotsopoulos S., and Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease. Medicine 84 (2005) 261-268
62. Schiffmann R., Ries M., Timmons M., Flaherty J.T., and Brady R.O. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21 (2006) 345-354
63. Breunig F., Weidemann F., Strotmann J., Knoll A., and Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69 (2006) 1216-1221
64. Whybra C., Kampmann C., Krummenauer F., Ries M., Mengel E., Miebach E., et al. The Mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65 (2004) 299-307
65. Linthorst G.E., Hollak C.E., Donker-Koopman W.E., Strijland A., and Aerts J.M. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66 (2004) 1589-1595
66. Whitfield P.D., Calvin J., Hogg S., O'Driscoll E., Halsall D., Burling K., et al. Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide. J Inherit Metab Dis 28 (2005) 21-33
67. Lidove O., Bekri S., and Andres E. Maladie de Fabry en 2006 : une évaluation thérapeutique très limitée. Presse Med 35 (2006) 933-935