Abstract
BackgroundPain is an early symptom of Fabry disease (FD) and is characterized by a unique phenotype with mainly episodic acral and triggerable burning pain. Recently, we designed and validated the first pain questionnaire for adult FD patients in an interview and a self-administered version in German: the Würzburg Fabry Pain Questionnaire (FPQ). We now report the validation of the English version of the self-administered FPQ (enFPQ).MethodsAfter two forward–backward translations of the FPQ by native German and native English speakers, the enFPQ was applied at The Mark Holland Metabolic Unit, Manchester, UK for validation. Consecutive patients with genetically ascertained FD and current or previous FD pain underwent a face-to-face interview using the enFPQ. Two weeks later, patients filled in the self-administered enFPQ at home. The agreement between entries collected by supervised administration and self-administration of the enFPQ was assessed via Gwet’s AC1-statistics (AC1) for nominal-scaled scores and intraclass correlation coefficient (ICC) for interval-scaled elements.ResultsEighty-three FD patients underwent the face-to-face interview and 54 patients sent back a completed self-administered version of the enFPQ 2 weeks later. We found high agreement with a mean AC1-statistics of 0.725 for 55 items, and very high agreement with a mean ICC of 0.811 for 9 items.ConclusionsWe provide the validated English version of the FPQ for self-administration in adult FD patients. The enFPQ collects detailed information on the individual FD pain phenotype and thus builds a solid basis for better pain classification and treatment in patients with FD.
Highlights
Pain is an early symptom of Fabry disease (FD) and is characterized by a unique phenotype with mainly episodic acral and triggerable burning pain
Fabry disease (FD) is an X-linked lysosomal storage disorder based on mutations in the gene encoding α-galactosidase A (α-GAL)
298 FD patients were screened for eligibility with 158 having a current or past pain history
Summary
Pain is an early symptom of Fabry disease (FD) and is characterized by a unique phenotype with mainly episodic acral and triggerable burning pain. We designed and validated the first pain questionnaire for adult FD patients in an interview and a self-administered version in German: the Würzburg Fabry Pain Questionnaire (FPQ). We report the validation of the English version of the self-administered FPQ (enFPQ). Deficiency in enzyme activity leads to cellular deposition of globotriaosylceramide (Gb3) with consecutive multiorgan disease [1]. Treatment options are i.v. enzyme replacement therapy [2, 3] and an oral chaperone [4] which may slow disease progression. English version of the FPQ (enFPQ) to allow pain assessment to English speaking FD patients Pain is one of the earliest symptoms of FD starting in Jovanovic et al Orphanet J Rare Dis (2020) 15:296
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