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An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

  • D. Marques-da-Silva
  • R. Francisco
  • V. dos Reis Ferreira
  • L. Forbat
  • R. Lagoa
  • P. A. Videira
  • P. Witters
  • J. Jaeken
  • D. CassimanEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 44)

Abstract

Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding the prevalence of liver disease and the occurrence of liver symptoms in CDG patients. The network of patient advocacy groups, families and professionals (CDG & Allies – PPAIN) developed the LeQCDG by adapting validated published questionnaires. The LeQCDG was approved by an ethics committee, and the recruitment of patients and caregivers proceeded through social media platforms. Participants were asked to report past or present liver-related symptoms (e.g. hepatomegaly, liver fibrosis and cirrhosis) and laboratory results (e.g. biochemical and/or radiological). From 11 December 2016 to 22 January 2017, 155 questionnaires were completed. Liver disease was present in 29.9% of CDG patients. Main symptoms reported included hepatomegaly, increased levels of serum transaminases, fibrosis, steatosis and cirrhosis. The data obtained in this online survey confirm findings from a recent literature review of 25 years of published evidence (r = 0.927, P = 0.02). Our questionnaire collected large amounts of meaningful, clinical and patient-oriented data in a short period of time without geographic limitations. Internet-based approaches are especially relevant in the context of ultra-rare diseases such as CDG.

Keywords

Congenital disorder(s) of glycosylation (CDG) Literature review Liver PMM2-CDG Questionnaire Rare diseases 

Abbreviations

CDG & Allies

PPAIN – CDG Professionals and Patient Associations International Network

CDG

Congenital disorder(s) of glycosylation

CLDQ

Chronic liver disease questionnaire

ePROs

Electronic patient-reported outcomes

HQLQ

Hepatitis quality-of-life questionnaire

LDQoL

Liver disease quality-of-life questionnaire

LDSI 2.0

Liver disease symptom index 2.0

LeQCDG

Liver electronic questionnaire for CDG

PLD-Q

Polycystic liver disease-specific symptom questionnaire

pLTQ

Post-liver transplant quality of life

PROs

Patient-reported outcomes

QoL

Quality of life

Notes

Acknowledgements

Dorinda Marques-da-Silva acknowledges the support from the Rare Disease Foundation’s microgrant and ‘Liliana Scientific Scholarship’; Rita Francisco acknowledges Fundação para a Ciência e Tecnologia for the grant SFRH/BD/124326/2016 awarded to her.

We also thank the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies PPAIN), whose network expertise greatly helped in the creation of this manuscript.

Supplementary material

477624_1_En_121_MOESM1_ESM.docx (1.1 mb)
Supplementary Material ■■■ (DOCX 1092 kb)

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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • D. Marques-da-Silva
    • 1
    • 2
    • 3
  • R. Francisco
    • 1
    • 2
    • 3
  • V. dos Reis Ferreira
    • 2
    • 3
  • L. Forbat
    • 4
    • 5
  • R. Lagoa
    • 6
  • P. A. Videira
    • 1
    • 2
    • 3
  • P. Witters
    • 3
    • 7
  • J. Jaeken
    • 3
    • 7
  • D. Cassiman
    • 3
    • 7
    Email author
  1. 1.UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e TecnologiaUniversidade NOVA de LisboaCaparicaPortugal
  2. 2.Portuguese Association for CDGLisbonPortugal
  3. 3.CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)CaparicaPortugal
  4. 4.Faculty of Social SciencesUniversity of StirlingStirlingUK
  5. 5.Australian Catholic UniversityCanberraAustralia
  6. 6.ESTG – Instituto Politécnico de LeiriaLeiriaPortugal
  7. 7.Center for Metabolic DiseasesUZ and KU LeuvenLeuvenBelgium

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