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Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy

Background: Left ventricular hypertrophy (LVH) is a frequent echocardiographic feature in Fabry disease (FD) and in severe cases may be confused with hypertrophic cardiomyopathy (HCM) of other origin. The prevalence of FD in patients primarily diagnosed with HCM varies considerably in screening and...

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Autores principales: Gaggl, Martina, Lajic, Natalija, Heinze, Georg, Voigtländer, Till, Sunder-Plassmann, Raute, Paschke, Eduard, Fauler, Günter, Sunder-Plassmann, Gere, Mundigler, Gerald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2016
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879766/
https://www.ncbi.nlm.nih.gov/pubmed/27226774
http://dx.doi.org/10.7150/ijms.14997
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author Gaggl, Martina
Lajic, Natalija
Heinze, Georg
Voigtländer, Till
Sunder-Plassmann, Raute
Paschke, Eduard
Fauler, Günter
Sunder-Plassmann, Gere
Mundigler, Gerald
author_facet Gaggl, Martina
Lajic, Natalija
Heinze, Georg
Voigtländer, Till
Sunder-Plassmann, Raute
Paschke, Eduard
Fauler, Günter
Sunder-Plassmann, Gere
Mundigler, Gerald
author_sort Gaggl, Martina
collection PubMed
description Background: Left ventricular hypertrophy (LVH) is a frequent echocardiographic feature in Fabry disease (FD) and in severe cases may be confused with hypertrophic cardiomyopathy (HCM) of other origin. The prevalence of FD in patients primarily diagnosed with HCM varies considerably in screening and case finding studies, respectively. In a significant proportion of patients, presenting with only mild or moderate LVH and unspecific clinical signs FD may remain undiagnosed. Urinary Gb(3) isoforms have been shown to detect FD in both, women and men. We examined whether this non-invasive method would help to identify new FD cases in a non-selected cohort of patients with various degree of LVH. Methods and results: Consecutive patients older than 18 years with a diastolic interventricular septal wall thickness of ≥12mm determined by echocardiography were included. Referral diagnosis was documented and spot urine was collected. Gb(3) was measured by mass spectroscopy. Subjects with an elevated Gb(3)-24:18 ratio were clinically examined for signs of FD, α-galactosidase-A activity in leukocytes was determined and GLA-mutation-analysis was performed. We examined 2596 patients. In 99 subjects urinary Gb3 isoforms excretion were elevated. In these patients no new cases of FD were identified by extended FD assessment. In two of three patients formerly diagnosed with FD Gb3-24:18 ratio was elevated and would have led to further diagnostic evaluation. Conclusion: Measurement of urinary Gb3 isoforms in a non-selected cohort with LVH was unable to identify new cases of FD. False positive results may be prevented by more restricted inclusion criteria and may improve diagnostic accuracy of this method.
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spelling pubmed-48797662016-05-25 Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy Gaggl, Martina Lajic, Natalija Heinze, Georg Voigtländer, Till Sunder-Plassmann, Raute Paschke, Eduard Fauler, Günter Sunder-Plassmann, Gere Mundigler, Gerald Int J Med Sci Research Paper Background: Left ventricular hypertrophy (LVH) is a frequent echocardiographic feature in Fabry disease (FD) and in severe cases may be confused with hypertrophic cardiomyopathy (HCM) of other origin. The prevalence of FD in patients primarily diagnosed with HCM varies considerably in screening and case finding studies, respectively. In a significant proportion of patients, presenting with only mild or moderate LVH and unspecific clinical signs FD may remain undiagnosed. Urinary Gb(3) isoforms have been shown to detect FD in both, women and men. We examined whether this non-invasive method would help to identify new FD cases in a non-selected cohort of patients with various degree of LVH. Methods and results: Consecutive patients older than 18 years with a diastolic interventricular septal wall thickness of ≥12mm determined by echocardiography were included. Referral diagnosis was documented and spot urine was collected. Gb(3) was measured by mass spectroscopy. Subjects with an elevated Gb(3)-24:18 ratio were clinically examined for signs of FD, α-galactosidase-A activity in leukocytes was determined and GLA-mutation-analysis was performed. We examined 2596 patients. In 99 subjects urinary Gb3 isoforms excretion were elevated. In these patients no new cases of FD were identified by extended FD assessment. In two of three patients formerly diagnosed with FD Gb3-24:18 ratio was elevated and would have led to further diagnostic evaluation. Conclusion: Measurement of urinary Gb3 isoforms in a non-selected cohort with LVH was unable to identify new cases of FD. False positive results may be prevented by more restricted inclusion criteria and may improve diagnostic accuracy of this method. Ivyspring International Publisher 2016-04-26 /pmc/articles/PMC4879766/ /pubmed/27226774 http://dx.doi.org/10.7150/ijms.14997 Text en © Ivyspring International Publisher. Reproduction is permitted for personal, noncommercial use, provided that the article is in whole, unmodified, and properly cited. See http://ivyspring.com/terms for terms and conditions.
spellingShingle Research Paper
Gaggl, Martina
Lajic, Natalija
Heinze, Georg
Voigtländer, Till
Sunder-Plassmann, Raute
Paschke, Eduard
Fauler, Günter
Sunder-Plassmann, Gere
Mundigler, Gerald
Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
title Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
title_full Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
title_fullStr Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
title_full_unstemmed Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
title_short Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
title_sort screening for fabry disease by urinary globotriaosylceramide isoforms measurement in patients with left ventricular hypertrophy
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879766/
https://www.ncbi.nlm.nih.gov/pubmed/27226774
http://dx.doi.org/10.7150/ijms.14997
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