Fabry disease: systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Fabry disease: systemic features. Left ventricular hypertrophy (LVH), Cardiomyopathy, Abnormal heart valves. Fully referenced neurology checklist.
Cardiac features
- Left ventricular hypertrophy (LVH)
- Cardiomyopathy
- Abnormal heart valves
- Atrioventricular conduction defects
Ophthalmic features
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Other dermatological features
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Angiokeratoma corporis diffusum
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Other systemic features
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References
- MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750-760.
- Kolodny EH, Pastores GM. Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Society Nephrol 2002; 13:S150-as153.
- Ginsberg L, Valentine A, Mehta A. Fabry disease. Pract Neurol 2005; 5:110-113.
- Fellgiebel A, Muller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006; 5:791-795.
- Verrecchia E, Zampetti A, Antuzzi D, et al. The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. Eur J Intern Med 2016; 32:26-30.
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