Resumen
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.
Idioma original | English |
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Título de la publicación alojada | JIMD Reports |
Editorial | Springer |
Páginas | 83-90 |
Número de páginas | 8 |
DOI | |
Estado | Published - 2014 |
Serie de la publicación
Nombre | JIMD Reports |
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Volumen | 17 |
ISSN (versión impresa) | 2192-8304 |
ISSN (versión digital) | 2192-8312 |
Nota bibliográfica
Funding Information:RHL is supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.
Funding Information:
Frits Wijburg has received honoraria, travel grants or research grants from Shire Human Genetic Therapies, Inc., Genzyme and Actelion Pharmaceuticals.
Publisher Copyright:
© 2014, SSIEM and Springer-Verlag Berlin Heidelberg.
ASJC Scopus Subject Areas
- Internal Medicine
- Endocrinology, Diabetes and Metabolism
- Biochemistry, Genetics and Molecular Biology (miscellaneous)