Consensus recommendation on Fabry disease diagnosis in adult patients with left ventricular hypertrophy

Smid, Bouwien E.; Tol, Linda van der; Cecchi, Francesca; Elliott, Perry; Hughes, Derralynn; Linthorst, Gabor E.; Timmermans, Janneke; Weidemann, Frank; West, Michael; Biegstraaten, Marieke; Deprez, Ronald Lekanne dit; Florquin, Sandrine; Postema, Pieter G.; Kluin, Jolanda; Weerman, Marius van den Bergh; Hollak, Carla E. M.

doi:10.1016/j.ymgme.2013.12.242

Cited by 3 publications

(15 citation statements)

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“…In case heart, kidney or brain disease develops, the diagnosis should be re-evaluated by applying the respective diagnostic algorithm, e.g. with a kidney biopsy in case of chronic kidney disease (Smid 2014;Van der Tol 2014a, b).…”

Section: Discussionmentioning

confidence: 99%

“…The criteria for a definite and an uncertain diagnosis of FD were adopted from a previous consensus procedure; see Table 1 (Smid 2014). Strict definitions of the FD-specific clinical features (neuropathic pain, angiokeratoma, CV) were applied.…”

Section: Adopted Definitionsmentioning

confidence: 99%

“…*Organ-specific algorithm will be published in separate articles (Smid 2014; Van der Tol 2014a, b). **Follow-up in an expert centre for FD could be considered; ERT is not (yet) indicated However, in an individual who presents with cornea verticillata only but who has used medication that may induce cornea verticillata at any time during the medical history (Table 2), there is insufficient evidence for a diagnosis of FD, despite the presence of a GLA variant.…”

Section: Cornea Verticillatamentioning

confidence: 99%

“…In previous consensus procedures it was agreed that characteristic storage on electron microscopy (EM) of an affected organ (i.e. heart or kidney) should be considered as the gold standard for FD (Fogo et al 2010;Leone et al 2012;Smid 2014;Van der Tol 2014a, b). The panel is convinced that in the group of patients discussed here (i.e.…”

Section: Pathologymentioning

confidence: 99%

“…Bekri et al 2005;Spada et al 2006;Brouns et al 2007;Lin et al 2009;Wallin et al 2011;Dubuc et al 2012;Mechtler et al 2012). These screening studies have revealed a high number of individuals with variants in the GLA gene (Kobayashi et al 2012;Terryn et al 2013;van der Tol et al 2014). While the pathogenicity of some GLA variants is well described, the subjects identified by these screening studies often have a GVUS in the GLA gene, i.e.…”

Section: Introductionmentioning

confidence: 99%

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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

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: Discussionmentioning

confidence: 99%

Section: Adopted Definitionsmentioning

confidence: 99%

Section: Cornea Verticillatamentioning

confidence: 99%

Section: Pathologymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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

et al. 2014

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Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Tol

Svarstad

Ortíz

et al. 2015

Molecular Genetics and Metabolism

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Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Nowak

Mechtler²,

Hornemann

et al. 2018

Molecular Genetics and Metabolism

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BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes. In a large cohort of FD patients, we aimed to establish genotype/phenotype relations as indicated by serum LysoGb3 (deacylated Gb3). MethodsIn 69 consecutive adult FD patients (males: n=28 (41%)) with a GLA-mutation confirmed diagnosis, we conducted a multidisciplinary clinical characterization during their routine annual examinations, and measured serum LysoGb3 levels by highsensitive electrospray ionization liquid chromatography tandem mass spectrometry. ResultsSerum levels of LysoGb3 were significantly higher in Classic compared with LaterOnset phenotype and higher in the latter compared with controls, both in males (52

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Consensus recommendation on Fabry disease diagnosis in adult patients with left ventricular hypertrophy

Cited by 3 publications

References 0 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

Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

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