TY - JOUR T1 - What rheumatologist should know about Fabry disease JF - Annals of the Rheumatic Diseases JO - Ann Rheum Dis SP - e71 LP - e71 DO - 10.1136/annrheumdis-2019-215476 VL - 79 IS - 6 AU - Sergey Moiseev AU - Ekaterina Karovaikina AU - Pavel I Novikov AU - Dilyara Ismailova AU - Alexey Moiseev AU - Nikolai Bulanov Y1 - 2020/06/01 UR - http://ard.bmj.com/content/79/6/e71.abstract N2 - 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 Figure 1 Multiple angiokeratomas in male patient with Fabry disease.Figure 2 Significant left ventricular hypertrophy on ECG in the same patient.Acroparesthesias in FD can be confused with joint pain. … ER -