首页> 美国卫生研究院文献>JIMD Reports >Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up
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Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

机译:神经性疼痛,血管性角膜炎或角膜黄褐斑患者的法布里病的不确定诊断:诊断和随访方法的共识

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摘要

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 α-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 clinical experience and the literature, followed by an online survey and a written recommendation.Results: The 13 experts agreed that the recommendation is intended for individuals with neuropathic pain, AK and/or CV only, i.e. without kidney, heart or brain disease, with an uncertain diagnosis of FD. Only in the presence of FD-specific neuropathic pain (small fibre neuropathy with FD-specific pattern), AK (FD-specific localisations) or CV (without CV inducing medication), FD is confirmed. When these features have a non-specific pattern, there is insufficient evidence for FD. If no alternative diagnosis is found, follow-up is recommended.Conclusions: In individuals with an uncertain diagnosis of FD, the presence of an FD-specific pattern of CV, AK or neuropathic pain is sufficient to confirm the diagnosis of FD. When these features are non-specific, a definite diagnosis cannot (yet) be established and follow-up is indicated. ERT should be considered only in those patients with a confirmed diagnosis of FD.
机译:简介:患有神经性疼痛,血管性角膜刀(AK)和/或角膜黄褐斑(CV)的个体可以进行法布里疾病(FD)的测试。经典FD的特征在于这些功能的特定模式。当患者表现出非特异性模式时,α-半乳糖苷酶A(GLA)基因变异的致病性可能尚不清楚。这种不确定性常常导致相当大的困扰以及不适当的咨询和治疗。我们为这些不确定的FD诊断患者开发了一种临床方法。材料和方法:根据临床经验和文献,向FD专家小组提交了具有背景信息的文档,然后进行了在线调查和书面建议。 :13位专家同意,该建议仅适用于患有神经性疼痛,仅AK和/或CV的患者,即没有肾脏,心脏或脑部疾病且不确定FD诊断的个体。仅在存在FD特异性神经性疼痛(具有FD特异性模式的小纤维神经病变),AK(FD特异性定位)或CV(无CV诱导药物)的情况下,才能确认FD。当这些功能具有非特定的模式时,则没有足够的证据来证明FD。结论:对于不确定诊断FD的个体,只要存在FD特定的CV,AK或神经性疼痛,就足以确定FD的诊断。当这些特征不是特定的时,尚不能确定诊断(尚未确定)并进行随访。仅在确诊为FD的患者中才应考虑使用ERT。

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