Statistics from Altmetric.com
Fabry disease (FD) is a rare X-linked lysosomal storage disease resulting from the deficient activity of the α-galactosidase A enzyme and leading to a progressive accumulation of glycosphingolipids in a wide range of cells throughout the body. Early symptoms of FD, that is, neuropathic pain (pain in hands and/or feet characterised by exacerbations that are provoked by fever, exercise or heat), angiokeratoma (clustered angiomas in characteristic areas including bathing trunk area, lips and umbilicus) (figure 1), hypohidrosis/anhidrosis and gastrointestinal disorders, are usually present from childhood or adolescence, while progressive nephropathy, left ventricular hypertrophy (figure 2) and stroke/transient ischaemic attacks develop by the second to fourth decades of life (earlier in males than in females).1 Undiagnosed patients with FD can be detected by screening in at-risk populations, such as patients with end-stage renal disease, unexplained myocardial hypertrophy or early stroke (at the age of 18 to 55 years).2
Acroparesthesias in FD can be confused with joint pain. …
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.