title: A comprehensive Fabry-related pain questionnaire for adult patients.
abstract: Pain may be the earliest symptom in Fabry disease and presents with a distinct phenotype including triggerable pain attacks, evoked pain, pain crises, and chronic pain. Current pain questionnaires do not reflect the special phenotype of Fabry disease-associated pain, which hampers its systematic evaluation as the basis of correct diagnosis and effective treatment. A questionnaire specifically designed to assess Fabry disease-associated pain is thus urgently needed. At the Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), Germany, we developed and validated the first face-to-face Fabry Pain Questionnaire (FPQ) for adult patients. The initial version of the FPQ was tested in a pilot study with 20 consecutive Fabry disease patients. The performance of the revised FPQ was assessed in a first (n=56) and second (n=20) validation phase in consecutive Fabry disease patients. For this, patients were interviewed at baseline and 2 weeks later. We determined the test-retest reliability and validity of the FPQ in comparison to data obtained with the Neuropathic Pain Symptom Inventory. The FPQ contains 15 questions on the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain, chronic pain) in childhood and adulthood, on pain development during life with and without enzyme replacement therapy, and on everyday life impairment due to pain. This first disease-specific questionnaire is a valuable tool for baseline and follow-up assessment of pain in Fabry disease patients and may guide treatment in this distinct pain phenotype.
authors.affiliation: Department of Neurology, University of Würzburg, Würzburg, Germany; Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), University of Würzburg, Würzburg, Germany. Electronic address: ueceyler_n@ukw.de.
authors.forename: Nurcan
authors.initials: N
authors.lastname: Üçeyler
authors.affiliation: Department of Neurology, University of Würzburg, Würzburg, Germany; Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), University of Würzburg, Würzburg, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Magg
authors.affiliation: Institute of Clinical Epidemiology and Biometry, University of Würzburg, Würzburg, Germany.
authors.forename: Phillip
authors.initials: P
authors.lastname: Thomas
authors.affiliation: Institute of Clinical Epidemiology and Biometry, University of Würzburg, Würzburg, Germany; Comprehensive Heart Failure Center, University of Würzburg, Würzburg, Germany.
authors.forename: Silke
authors.initials: S
authors.lastname: Wiedmann
authors.affiliation: Institute of Clinical Epidemiology and Biometry, University of Würzburg, Würzburg, Germany; Comprehensive Heart Failure Center, University of Würzburg, Würzburg, Germany; Clinical Trial Center Würzburg, University Hospital Würzburg, Würzburg, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Heuschmann
authors.affiliation: Department of Neurology, University of Würzburg, Würzburg, Germany; Würzburg Fabry Center for Interdisciplinary Therapy (FAZIT), University of Würzburg, Würzburg, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Sommer
mesh_terms: D000293:Adolescent; D000328:Adult; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000175:diagnosis* / Q000209:etiology*; D010147:Pain Measurement / Q000379:methods*; D015203:Reproducibility of Results; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Evoked pain; Fabry Pain Questionnaire; Fabry disease; Neuropathic pain; Pain attacks; Pain crises