Fabry's disease is an X linked recessive lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase which causes an inability to catabolise glycosphingolipid.1 There is progressive accumulation of globotriaosylceramide in many organs including skin, myocardium and kidneys. The classical form of the disease affects male homozygotes and presents in adolescence with burning extremity pain (acroparaesthesia) and progressive multi-organ failure. The most common variant is that seen in men who remain asymptomatic until the sixth to eighth decade before presenting with symptoms of congestive cardiac failure secondary to progressive myocardial fibrosis which is usually more extensive than that seen in affected women.1 It is important to distinguish Fabry's disease from other causes of left ventricular hypertrophy (LVH) including hypertensive heart disease and amyloidosis. Cardiovascular MRI(CMRI) is the technique of choice for a suspected cardiomyopathy as it frequently enables a specific diagnosis to be established....
Source: http://pmj.bmj.com/cgi/content/short/88/1046/731?rss=1
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