Abstract
This is a descriptive analysis of a cohort of 59 Taiwanese patients with Fabry disease and either classical Fabry or cardiac variant IVS4+919G>A (IVS4) mutations from a disease registry, the Fabry Outcome Survey (FOS; sponsored by Shire). Most of our classical Fabry patients were symptomatic and were identified upon seeking medical advice at our clinics, whereas most of our IVS4 patients attended our clinics after newborn screening identified this mutation in their grandsons. The objective was to determine differences in cardiac manifestations between patients with classical Fabry or IVS4 mutations by comparing age at onset of selected cardiac symptoms. Data were extracted in August 2013 and analyzed retrospectively. Fifty-nine Taiwanese patients (median age at extract 60.7 years [range 15.0–86.9]; n = 36 [61%] male) with proven IVS4 (n = 41 [69%]) or classical Fabry mutations (n = 18 [31%]) had available data on cardiac symptoms. Of 55 (93%) patients with reported left ventricular hypertrophy (LVH), mean [SD] age (years) at first symptom was lower in classical Fabry males (30.0 [15.1]; n = 4) than classical Fabry females (49.6 [8.9]; n = 11; p < 0.05), but not in IVS4 females (57.4 [13.7]; n = 10) compared with IVS4 males (55.9 [11.3]; n = 30). Mean age at first LVH diagnosis was significantly lower in classical Fabry males versus IVS4 males (p < 0.05). No significant difference in age at onset of arrhythmia or conductive abnormality, chest pain, or palpitations or cardiac syncope was found between the groups. The most noteworthy finding of this study is the lack of a significant gender sex difference in age at onset of cardiac symptoms in IVS4 patients.
Competing interests: None declared
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Acknowledgments
This analysis was funded by Shire. The authors would like to thank Dr HF Chen, Dr TH Chu, YH Wang, WT Su, and CC Yeh for their contributions to data collection. Medical writing support was provided by Tina Rose of Excel Scientific Solutions, which was funded by Shire.
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Communicated by: Robert J Desnick, PhD, MD
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Dau-Ming Niu has received research support, reimbursement for travel, and speaker honoraria from Shire and Genzyme.
Wen-Chung Yu has received travel grants and speaker honoraria from Shire and Genzyme.
Hao-Chuan Liu, Ting-Rong Hsu, Chia-Feng Yang, and Hsiang-Yu Lin declare that they have no conflicts of interest.
Amandine Perrin is an employee of Shire.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
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All authors contributed to the planning and conduct of the study. Amandine Perrin performed the statistical analyses. All authors drafted the manuscript and approved the final version.
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Liu, HC. et al. (2015). Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS). In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 22. JIMD Reports, vol 22. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_418
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DOI: https://doi.org/10.1007/8904_2015_418
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