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SHR Neuro Krebs Kardio Lipid

Gaggl, M; Lajic, N; Heinze, G; Voigtländer, T; Sunder-Plassmann, R; Paschke, E; Fauler, G; Sunder-Plassmann, G; Mundigler, G.
Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.
Int J Med Sci. 2016; 13(5):340-346 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Autor/innen der Med Uni Graz:
Fauler Günter
Paschke Eduard

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Number of Figures: 2
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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 Gb3 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. 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. Gb3 was measured by mass spectroscopy. Subjects with an elevated Gb3-24:18 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. 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.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Aged -
Aged, 80 and over -
Echocardiography -
Fabry Disease - diagnosis
Fabry Disease - metabolism
Fabry Disease - urine
Female -
Glycolipids - urine
Humans -
Hypertrophy, Left Ventricular - urine
Male -
Mass Spectrometry -
Middle Aged -
Spectrometry, Mass, Electrospray Ionization -
Trihexosylceramides - urine
alpha-Galactosidase - metabolism

Find related publications in this database (Keywords)
Fabry disease
left ventricular hypertrophy
case-finding study
urinary Gb(3) isoforms
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