Fabry disease 'The New Great Imposter': Results of the French Observatoire in Internal Medicine Departments (FIMeD)

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 571-577

  Lidove, O ^a   Kaminsky, P ^b   Hachulla, E ^c   Leguy Seguin, V ^d   Lavigne, C ^e   Marie, I ^f   Maillot, F ^g   Serratrice, C ^h   Masseau, A ⁱ   Cherin P ^j   Cabane, J ^k   Noel, E ^l  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c UNIV LILLE   (France)

^d DIJON UNIVERSITY HOSPITAL   (France)

^e ANGERS UNIVERSITY HOSPITAL   (France)

^f ROUEN UNIVERSITY HOSPITAL   (France)

^g UNIVERSITÉ DE TOURS   (France)

^h TIMONE HOSPITAL   (France)

ⁱ NANTES UNIVERSITY HOSPITAL   (France)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k HÔPITAL SAINT ANTOINE   (France)

^l UNIVERSITY HOSPITAL OF STRASBOURG   (France)

more..

Author keywords

Delayed diagnosis; Enzyme replacement therapy; Fabry disease; Lysosomal storage disease

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL FEATURE; DELAYED DIAGNOSIS; DIFFERENTIAL DIAGNOSIS; FABRY DISEASE; FAMILY HISTORY; FEMALE; FRANCE; HEMANGIOKERATOMA; HUMAN; LIMB PAIN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; ANGIOKERATOMA; CHILD; DELAYED DIAGNOSIS; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; FRANCE; HOSPITAL DEPARTMENTS; HUMANS; MALE; MIDDLE AGED; PAIN; RETROSPECTIVE STUDIES; SKIN NEOPLASMS;

EID: 84859608282     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01718.x     Document Type: Article

References (29)

1. Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008: 372: 1427-1435.
2. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KE, Vogelstein B, eds. The metabolic and molecular bases of inherited diseases, 8th edn. New York, NY: McGraw-Hill, 2001: 3733-3774.
3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999: 281: 249-254.
4. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 2006: 79: 31-40.
5. Hwu WL, Chien YH, Lee NC et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 2009: 30: 1397-1405.
6. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009: 11: 790-796.
7. 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: 184-192.
8. Hopkin RJ, Bissler J, Banikazemi M et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008: 64: 550-555.
9. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001: 38: 750-760.
10. Hoffmann B, Mayatepek E. Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int 2009: 106: 440-447.
11. MacDermot KD, Holmes H, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001: 38: 769-775.
12. Wilcox WR, Oliveira JP, Hopkin RJ et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008: 93: 112-128.
13. Schiffmann R, Kopp JB, Austin HA 3rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001: 285: 2743-2749.
14. 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.
15. Lidove O, West ML, Pintos-Morell G et al. Effects of enzyme replacement therapy in Fabry disease-A comprehensive review of the medical literature. Genet Med 2010: 12: 668-679.
16. Burlina AP, Manara R, Caillaud C et al. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol 2008: 255: 738-744.
17. Karras A, De Lentdecker P, Delahousse M et al. Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era. Am J Transplant 2008: 8: 1345-1348.
18. Lidove O, Ramaswami U, Jaussaud R et al. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey. Int J Clin Pract 2006: 60: 1053-1059.
19. Lidove O, Chauveheid MP, Benoist L, Alexandra JF, Klein I, Papo T. Chronic meningitis and thalamic involvement in a woman: Fabry disease expanding phenotype. J Neurol Neurosurg Psychiatry 2007: 78: 1007.
20. Lidove O, Chauveheid MP, Caillaud C et al. Aseptic meningitis and ischaemic stroke in Fabry disease. Int J Clin Pract 2009: 63: 1663-1667.
21. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004: 34: 236-242.
22. Weidemann F, Niemann M, Breunig F et al. Long term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 2009: 119: 524-529.
23. Mehta A, Beck M, Eyskens F et al. Fabry disease: a review of current management strategies. QJM 2010: 103: 641-659.
24. Linthorst GE, Vedder AC, Bouma BJ et al. Unexplained left ventricular hypertrophy: consider a diagnosis of Fabry's disease. Neth Heart J 2006: 14: 100-105.
25. Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008: 17: 79-83.
26. Ries M, Gupta S, Moore DF et al. Pediatric Fabry disease. Pediatrics 2005: 115: e344-e355.
27. Linthorst GE, Bouwman MG, Wijburg FA et al. Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet 2010: 47: 217-222.
28. 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 Coll Cardiol 2007: 18: 2399-2403.
29. Lidove O, Joly D, Touzé E. Letter regarding Brouns et al., Baptista et al., and Wozniak et al. Stroke 2011: 42: e4-e5.