Hyperhidrosis: A new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

Oliver Lidove, U. Ramaswami, R. Jaussaud, F. Barbey, T. Maisonobe, C. Caillaud, M. Beck, G. Sunder-Plassmann, A. Linhart, A. Mehta, O. Bodamer, A. C. Hauser, J. Kleinert, G. Sunder-Plassmann, C. Binder, P. Kotanko, T. Kroepfl, B. Plecko, G. Clerbaux, B. GeorgesM. C. Nassogne, Y. Pirson, F. Dehout, D. Roland, L. Van Maldergem, P. Goyens, K. De Smet, F. Eyskens, J. Bultas, D. Karetová, A. Linhart, J. C. Lubanda, S. Magage, G. Choukroun, J. Berthelot, S. Carey Reomonnay, D. Lacombe, S. Benziane, E. Hachulla, B. Dussol, P. Jaeger, D. Germain, O. Lidove, R. Jaussaud, D. Caraman, A. von Arnim-Baas, J. Hennermann, H. P.H. Neumann, A. Das, S. Illsinger, K. Baron, M. Beck, S. Delgado-Sànchez, R. Hartung, C. Kampmann, K. S. Kim, A. Schwarting, H. Tremmel, C. Whybra, B. Hoffmann, B. Koletzko, T. Böttcher, A. Rolfs, O. Gabrielli, I. F. Salvatori, W. Borsini, S. Buchner, R. Parini, R. Ravaglia, F. Santus, R. Di Vito, C. Gasbarri, A. Burlina, G. Tognana, D. Antuzzi, M. Catorina, M. Di Lillo, S. Feriozzi, R. Ricci, L. A. Bindoff, L. H. Bostad, A. L. Grant, O. H. Haugen, A. Hirth, G. Houge, Kaarbøe, L. M. Lægreid, G. Neckelmann, N. Strømsvik, E. Svarstad, T. J. Thune, C. Tøndel, A. Skarbøvik, A. B. Tafjord, M. A. Barba, E. Gómez Huertas, J. Herrera, J. Ara, J. Bonal, E. Larrousse, G. Pintos, J. Ballarin, R. Torra, J. Torras, V. Torregrosa, J. González, M. Garcia, C. Herrera, I. Martin, J. Rodriguez, F. J. Barbado, J. Garcia-Consuegra, A. Garcia de Lorenzo, M. López, J. Paniagua, S. Hernández, V. Fernández, A. León, J. Andreu, J. A. León, E. Maya, I. Febrer, A. Perez García, A. Rivera, B. Öqvist, U. Huynh-Do, F. Barbey, J. Theytaz, G. Schulthess, K. Walter, U. Widmer, T. M. Cox, P. Deegan, U. Ramaswami, N. Wright, A. Burns, J. Elliott, P. M. Elliott, S. Evans, L. Ginsberg, D. Hughes, A. Ionedes, A. Mehta, A. Milligan, C. Orteu, L. Richfield, J. Shah

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Abstract

Hypohidrosis is a classic feature of Fabry disease; in contrast, hyperhidrosis has only been rarely described. The aim of the study is to characterise the baseline descriptive data on hyperhidrosis (frequency, age at onset, sex ratio and outcome with and without enzyme replacement therapy) in hemizygous male and heterozygous female patients with Fabry disease. We describe case histories of five patients with Fabry disease and hyperhidrosis seen at three different centres. We have also analysed a cohort of 21 paediatric patients in the UK and a large European cohort of patients enrolled in the Fabry Outcome Survey (FOS). Five patients (three female, two male) with hyperhidrosis were originally identified, although each had additional symptoms related to Fabry disease. The age at onset of hyperhidrosis was less than 18 years in four cases. In the cohort of 21 paediatric patients (12 female, nine male), one female had hyperhidrosis; the age at onset of this symptom was 11 years. In the FOS cohort, 66 of 714 patients with Fabry disease had hyperhidrosis (44 of 369 females, 11.9%; 22 of 345 males, 6.4%). The female predominance was observed in seven of nine countries from which data were analysed. Hyperhidrosis is an increasingly recognised feature of the Fabry disease phenotype. It is more prevalent in females than in males and often appears in childhood or adolescence. The efficacy of enzyme replacement therapy on this recently recognised symptom should be assessed.

Original languageEnglish (US)
Pages (from-to)1053-1059
Number of pages7
JournalInternational Journal of Clinical Practice
Volume60
Issue number9
DOIs
StatePublished - Sep 2006

Keywords

  • Early diagnosis
  • Fabry disease
  • Fabry Outcome Survey
  • Heterozygote
  • Hyperhidrosis

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Hyperhidrosis: A new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey'. Together they form a unique fingerprint.

Cite this