Characterization of Pain in Fabry Disease

Üçeyler, Nurcan; Ganendiran, Shalni; Krämer, Daniela; Sommer, Claudia

doi:10.1097/ajp.0000000000000041

Cited by 96 publications

(179 citation statements)

References 23 publications

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“…Fabry disease-associated pain is assumed to be neuropathic because Gb3 deposits have been reported in nervous tissue of patients [5,9] and because small-fiber neuropathy is associated with Fabry disease [2,10,11,16,19,20]. However, Fabry pain also entails nonneuropathic components and may respond to medication that is otherwise ineffective in neuropathic pain [18].…”

Section: Introductionmentioning

confidence: 98%

“…Previously we showed that Fabry disease-associated pain mainly manifests with 4 distinct phenotypes: pain attacks, evoked pain (ie, pain induced by touch or normally nonpainful stimuli), pain crises, and permanent pain [6,18]. Fabry pain is mostly of a burning character; manifests at soles and palms; is triggerable by fever, heat, or physical activity; and has a diverse temporal course.…”

Section: Introductionmentioning

confidence: 99%

“…Pain is one of the major symptoms of Fabry disease and may start in childhood [4,18]. The recognition of this early red flag is essential to make the diagnosis and to start treatment before organ involvement ensues.…”

Section: Introductionmentioning

confidence: 99%

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A comprehensive Fabry-related pain questionnaire for adult patients

Üçeyler

Magg

Thomas

et al. 2014

Pain

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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.

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Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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A comprehensive Fabry-related pain questionnaire for adult patients

Üçeyler

Magg

Thomas

et al. 2014

Pain

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show abstract

“…Fabry-associated pain is often very complex and difficult to cope, requiring extensive assessment by specialized neurologists [6,8]. Neuropathic origin is regularly hypothesized [40] potentially explaining why patients might not respond to therapy with non-steroidal anti-rheumatic and/or non-opioid analgetic drugs, but from medications as pregabalin, carbamazepines or tricyclic antidepressants [41].…”

Section: Fabry-associated Painmentioning

confidence: 99%

“…In respective males with a classic mutation, a very low or completely missing α-GAL enzyme activity is apparent [1,2]. As a result, progressive globotriaosylceramides (Gb3) accumulation in lysosome-carrying tissues lead to irreversible and disease-specific tissue injury of the kidneys [3], heart [4] and equivalent alterations affecting the central and peripheral nervous system [5,6] (fig. 1).…”

Section: Introductionmentioning

confidence: 99%

Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease

Oder

Nordbeck

Wanner³

2016

Nephron

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Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies. Early ERT treatment at young age, a personalized approach, and adjunctive therapies for specific disease manifestations appear to impact on prognosis and are currently favored with the expectance of more effective intravenous and oral treatments in the short future.

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Cold‐evoked potentials – Ready for clinical use?

Hüllemann

Nerdal

Binder

et al. 2016

European Journal of Pain

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CEPs were reliably recorded in healthy subjects at the hand, face and foot. Experimentally induced reversible A-delta fibre function loss was detected by CEPs. Functional recovery was assessed as well. This study is basis for further CEP evaluation studies and might be the first step for implementing CEPs in clinical routine for the early diagnosis of small-fibre disease. WHAT DOES THIS STUDY ADD?: Cold-evoked potentials are capable of reliably measuring A-delta fibre integrity, loss of function and functional recovery in healthy subjects, which is an essential prerequisite for diagnostic use in patients with small-fibre disease.

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Characterization of Pain in Fabry Disease

Cited by 96 publications

References 23 publications

A comprehensive Fabry-related pain questionnaire for adult patients

A comprehensive Fabry-related pain questionnaire for adult patients

Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease

Cold‐evoked potentials – Ready for clinical use?

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