The relation between small nerve fibre function, age, disease severity and pain in Fabry disease

Biegstraaten, Marieke; Binder, Andreas; Maag, R.; Hollak, Carla E. M.; Baron, Ralf; Schaik, Ivo N. van

doi:10.1016/j.ejpain.2011.01.014

Cited by 31 publications

(29 citation statements)

References 32 publications

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“…The neuropathic pain that is caused by FD has a characteristic presentation and is related to the presence of SFN. In 95% of male and 75% of female FD patients, an abnormal heat detection threshold for cold and/or diminished intraepidermal nerve fibre density is found (Biegstraaten et al 2011(Biegstraaten et al , 2012Uceyler et al 2011). In case of a variant in the GLA gene and the presence of neuropathic pain in hands and feet starting at childhood and increasing with heat/fever (Biegstraaten et al 2012;Uceyler et al 2013), there is no known alternative diagnosis.…”

Section: Neuropathic Painmentioning

confidence: 99%

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

et al. 2014

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Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the a-galactosidase A (GLA) gene may be unclear. This uncertainty often leads to considerable distress and inappropriate counselling and treatment. We developed a clinical approach for these individuals with an uncertain diagnosis of FD.Materials and Methods: A document was presented to an FD expert panel with background information based on

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Section: Neuropathic Painmentioning

confidence: 99%

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

et al. 2014

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“…QST and IENFD data were extracted from the database if these tests were already performed in the context of a previous study (Biegstraaten et al 2011(Biegstraaten et al , 2012. In all other study patients a QST protocol and skin biopsy for IENFD assessment were performed.…”

Section: Assessmentsmentioning

confidence: 99%

“…Six patients participated in a previous study that included similar investigations and gave their consent to reuse their results in this study (Biegstraaten et al 2011). …”

Section: Approval and Consentmentioning

confidence: 99%

“…Previous studies have shown that all male and most female patients with (classical) FD have an abnormal quantitative sensory testing (QST) profile and a decreased intraepidermal nerve fibre density (IENFD) in a skin biopsy at the distal leg (Dutsch et al 2002;Laaksonen et al 2008;Biegstraaten et al 2011Biegstraaten et al , 2012€ Uçeyler et al 2011€ Uçeyler et al , 2013. We hypothesized that QST and IENFD could aid in the diagnosis of FD in patients who initially present with an uncertain diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

et al. 2015

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Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an a-galactosidase A enzyme deficiency due to pathogenic variants in the agalactosidase A gene (GLA). An increasing number of individuals with a GLA variant, but without characteristic FD features, are identified. A definite diagnosis of FD has important consequences for treatment and counselling.Objectives: We assessed the diagnostic value of quantitative sensory testing (QST) and intraepidermal nerve fibre density (IENFD) for patients with an uncertain FD diagnosis.Methods: All patients with a GLA variant who initially presented at the Academic Medical Center with an uncertain FD diagnosis were included. A biopsy of an affected organ in a patient or family member showing FD characteristic storage is used as a reference standard for a diagnosis of FD. All patients underwent a comprehensive QST protocol and IENFD assessment which was compared to age and gender-matched healthy controls. Sensitivity and specificity were calculated for a combination of !1 abnormal QST modality and an abnormal IENFD.Results: Twenty-six patients participated (nonclassical FD n ¼ 18, 9 males; no FD n ¼ 5, 3 males; uncertain n ¼ 3, 1 male). Of the patients classified as nonclassical FD, 28% had !1 abnormal QST modalities, and 83% had an abnormal IENFD. From the patients without FD, 20% had !1 abnormal QST modality, and IENFD was abnormal in 25% (1 not available). Sensitivity was 28% and specificity 80%.Conclusions: In our study cohort, QST and IENFD could not reliably distinguish patients with FD from those without FD.

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“…Прямая зависимость между степенью выраженности боли и функционирова-нием тонких безмиелиновых волокон отсутствует. По ме-ре старения пациента и развития болезни боль может уменьшаться, в то время как функционирование волокон будет продолжать ухудшаться [43,44].…”

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The neurological manifestations of Fabry disease. A review

Firsov¹,

Котов²

2016

Z. nevrol. psikhiatr. im. S.S. Korsakova

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The relation between small nerve fibre function, age, disease severity and pain in Fabry disease

Abstract: In Fabry disease, no linear relationship exists between pain and small nerve fibre function. With older age and more severe disease pain may abate as nerve fibre function further deteriorates.

Cited by 31 publications

References 32 publications

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

The neurological manifestations of Fabry disease. A review

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