Self-administered version of the Fabry-associated pain questionnaire for adult patients

Magg, Barbara; Riegler, Christoph; Wiedmann, Silke; Heuschmann, Peter U.; Sommer, Claudia; Üçeyler, Nurcan

doi:10.1186/s13023-015-0325-7

Cited by 18 publications

(21 citation statements)

References 15 publications

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“…Pain during childhood can now be captured as part of the Fabry‐specific Pediatric Health and Pain Questionnaire as well as with the well‐established general pain scales such as the Brief Pain Inventory (BPI), Short‐Form (SF) McGill Pain Questionnaire, or as part of the SF‐36 health‐related quality of life assessment. The first face‐to‐face questionnaire for adult patients with FD was published recently and a self‐administered version is now available . The Würzburg Fabry Pain Questionnaire comprises 22 open questions assessing the four main pain phenotypes in childhood and adolescence, pain history prior to and during ERT, pain characters, pain triggers, and impairments of daily life due to pain.…”

Section: Resultsmentioning

confidence: 99%

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

et al. 2016

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SummaryAimsPatients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed.MethodsIn 2014, experts met to discuss recent advances on this topic and update clinical guidance.ResultsEmerging disease‐specific tools, including FabryScan, Fabry‐specific Pediatric Health and Pain Questionnaire, and Würzburg Fabry Pain Questionnaire, and more general tools like the Total Symptom Score can aid diagnosis, characterization, and monitoring of pain in patients with FD. These tools can be complemented by more objective and quantifiable sensory testing. In male and female patients of any age, pain related to FD can be an early indication to start disease‐specific enzyme replacement therapy before potentially irreversible organ damage to the kidneys, heart, or brain occurs.ConclusionTo improve treatment outcomes, pain should be diagnosed early in unrecognized or newly identified FD patients. Treatment should include: (a) enzyme replacement therapy controlling the progression of underlying pathology; (b) adjunctive, symptomatic pain management with analgesics for chronic neuropathic and acute nociceptive, and inflammatory or mixed pain; and (c) lifestyle modifications.

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Section: Resultsmentioning

confidence: 99%

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

et al. 2016

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“…Table 1 gives a synopsis of the study cohort. The main characteristics of the current study population were comparable with those patients investigated during the validation study for the German version of the questionnaire [12]. 298 FD patients were screened for eligibility with 158 having a current or past pain history.…”

Section: Discussionmentioning

confidence: 99%

“…We provide the English version of the Würzburg Fabry Pain Questionnaire (enFPQ), the first pain questionnaire for adult patients and self-administration. This questionnaire is based on its German FPQ version for face-to-face interview [11] and self-administration [12].…”

Section: Discussionmentioning

confidence: 99%

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English version of the self-administered Fabry Pain Questionnaire for adult patients

Jovanović¹,

Klassen

Heuschmann

et al. 2020

Orphanet J Rare Dis

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Background Pain 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). Methods After 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. Results Eighty-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. Conclusions We 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.

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“…All patients underwent complete neurological and general medical examination and filled in the W€ urzburg Fabry Pain Questionnaire (FPQ) [16]. All patients also received nerve conduction studies to exclude polyneuropathy.…”

Section: Clinical Phenotypingmentioning

confidence: 99%

Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure

et al. 2020

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Background. Fabry disease (FD) is an X-linked lysosomal storage and multi-system disorder due to mutations in the a-galactosidase A (a-GalA) gene. We investigated the impact of individual amino acid exchanges in the a-GalA 3D-structure on the clinical phenotype of FD patients. Patients and methods. We enrolled 80 adult FD patients with a-GalA missense mutations and stratified them into three groups based on the amino acid exchange location in the a-GalA 3Dstructure: patients with active site mutations, buried mutations and other mutations. Patient subgroups were deep phenotyped for clinical and laboratory parameters and FD-specific treatment. Results. Patients with active site or buried mutations showed a severe phenotype with multi-organ involvement and early disease manifestation. Patients with other mutations had a milder phenotype with less organ impairment and later disease onset. a-GalA activity was lower in patients with active site or buried mutations than in those with other mutations (P < 0.01 in men; P < 0.05 in women) whilst lyso-Gb3 levels were higher (P < 0.01 in men; <0.05 in women). Conclusions. The type of amino acid exchange location in the a-GalA 3D-structure determines disease severity and temporal course of symptom onset. Patient stratification using this parameter may become a useful tool in the management of FD patients.

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Self-administered version of the Fabry-associated pain questionnaire for adult patients

Cited by 18 publications

References 15 publications

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

English version of the self-administered Fabry Pain Questionnaire for adult patients

Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure

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