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Original article
Natural history of Fabry disease in females in the Fabry Outcome Survey
  1. P B Deegan1,
  2. A F Baehner2,
  3. M-Á Barba Romero3,
  4. D A Hughes4,
  5. C Kampmann2,
  6. M Beck2,
  7. on behalf of the European FOS Investigators
  1. 1Addenbrooke’s Hospital, Cambridge, UK
  2. 2Children’s Hospital, Mainz, Germany
  3. 3Albacete University Hospital, Albacete, Spain
  4. 4Royal Free Hospital, London, UK
  1. Correspondence to:
 Dr Patrick Deegan
 Department of Medicine, Addenbrooke’s Hospital, Cambridge, CB2 2QQ, UK; pbd21{at}medschl.cam.ac.uk

Abstract

Background: Fabry disease is a rare X linked lysosomal storage disorder resulting from deficiency of α-galactosidase A activity. Although the severity of clinical features in male patients is well described, only recently have studies reported the high prevalence of disabling clinical features in heterozygous females.

Aims: This study sets out to examine the clinical features and natural history of Fabry disease in further detail in a large group of female patients.

Methods: Data were obtained from 303 females enrolled in the Fabry Outcome Survey. Pain was assessed using the Brief Pain Inventory, and health related quality of life (HRQoL) was assessed using the European Quality of Life Questionnaire. A modified version of the Mainz Severity Score Index was also applied. Data on left ventricular mass (LVM) index, mean ventricular wall thickness, and glomerular filtration rate (GFR) were used to assess cardiac and renal involvement.

Results: The most commonly reported clinical features in females were neurological (77%) and cardiac (59%). A history of renal involvement was recorded in 40% of cases. Neurological features were the earliest to develop (mean age: 16 years), whereas cardiac (mean age: 33.5 years) and renal (mean age: 37.3 years) features developed later. LVM index increased exponentially with age. In addition, age was negatively correlated with estimated GFR and HRQoL.

Conclusions: Females with Fabry disease report important age related clinical features and clinical investigation demonstrates evidence of disease progression. This study highlights the importance of careful and longitudinal assessment of female heterozygote patients with Fabry disease.

  • BPI, Brief Pain Inventory
  • ERT, enzyme replacement therapy
  • EQ-5D, European Quality of Life Questionnaire
  • FOS, the Fabry Outcome Survey
  • GFR, glomerular filtration rate
  • HRQoL, health related quality of life
  • LVM, left ventricular mass
  • MDRD, Modification of Diet in Renal Disease
  • MSSI, Mainz Severity Score Index
  • Fabry disease
  • Fabry Outcome Survey
  • heterozygotes

https://doi.org/10.1136/jmg.2005.036327

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    Footnotes

    • Published Online First 14 October 2005

    • Drs Baehner, Barba Romero, and Hughes contributed equally to this paperThe following members of the European FOS Investigators Group submitted data from their patients. Austria: Bodamer O, Hauser A-C, Kleinert J, and Sunder-Plassmann G (Vienna) and Binder C, Kotanko P, Kroepfl T, and Plecko B (Graz); Belgium: Clerbaux G, Georges B, Nassogne MC, and Pirson Y (Brussels), Dehout F, Roland D, and Van Maldergem L (Charleroi), Goyens P (Liège), and Eyskens F (Middelheim); Czeck Republic: Bultas J, Karetová D, Linhart A, Lubanda J-C, and Magage S (Prague); France: Choukroun G (Amien), Berthelot J (Anger), Carey Reomonnay S (Besançon), Lacombe D (Bordeaux), Benziane S (Cambrais), Hachulla E (Lille), Dussol B (Marseille), Jaeger P (Nice), Germain D and Lidove O (Paris), Jaussaud R (Reims), and Caraman D (Thionville); Germany: von Arnim-Baas A and Hennermann J (Berlin), Hoffmann B (Dussledorf), Neumann HPH (Freiburg), Das A and Illsinger S (Hannover), Baron K, Beck M, Delgado-Sanchez S, Hartung R, Kampmann C, Schwarting A, and Whybra C (Mainz), Koletzko B (Munich), and Böttcher T and Rolfs A (Rostock); Italy: Gabrielli O and Salvatori IF (Ancona), Concolino D, Strisciuglio P, and Vega G (Catanzano), Borsini W and Buchner S (Florence), Parini R, Ravaglia R, and Santus S (Milan), Di Vito R (Ortona), Burlina A and Tognana G (Padova), Antuzzi D, Castorina M, Di Lillo M, Feriozzi S, and Ricci R (Rome); Norway: Houge G, Lægreid LM, Strømsvik N, Svarstad E, and Tøndel C (Bergen), and Skarbøvik A and Tafjord A-B (Ålesund); Spain: Barba MA (Albacete), Gómez Huertas E and Herrera J (Asturias), Ara J, Bonal J, Larrousse E, and Pintos G (Badalona), Ballarin J, Torra R, Torras J, and Torregrosa V (Barcelona), González J (Cadiz), Garcia M, Herrera C, Martin I, and Rodriguez J (Huelva), Barbado FJ, Garcia-Consuegra J, García de Lorenzo A, and López M (La Paz), Paniagua J (Ponferrada), Hernández S (San Agustin-Linares), Fernández V and León A (Santiago), Andreu J, León JA, and Maya E (Seville), Febrer I and Perez García A (Valencia), and Rivera A (Vigo); Sweden: Alklind A and Jönsson A-L (Gothenburg) and Öqvist B (Lund); Switzerland: Ferrari P and Vogt B (Bern), Barbey F and Theytaz J (Lausanne), and Schulthess G, Walter K, and Widmer U (Zurich); UK: Cox TM, Deegan P B, Ramaswami U, and Wright N (Cambridge) and Burns A, Elliott J, Elliott PM, Evans S, Ginsberg L, Hughes D A, Ionnedes A, Mehta A, Milligan A, Orteu C, Richfield L, and Shah J (London).

    • Sponsorship: The FOS database is under the independent control of the FOS European board. Data collection and analysis in FOS are supported by TKT Europe, Danderyd, Sweden. The sponsor had no role in the interpretation of data or writing of this report.

    • Competing interests: P B Deegan, F Baehner, and D A Hughes have received honoraria and travel grants from TKT Europe. M-Á Barba Romero has received honoraria and travel grants from TKT Europe and travel grants from Genzyme. M Beck has received honoraria, travel grants, and research grants from TKT Europe and Genzyme.