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What rheumatologist should know about Fabry disease
  1. Sergey Moiseev1,
  2. Ekaterina Karovaikina1,
  3. Pavel I Novikov1,
  4. Dilyara Ismailova2,
  5. Alexey Moiseev3,
  6. Nikolai Bulanov1
  1. 1 Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russian Federation
  2. 2 Department of Orbital, Ophthalmic Plastic and Reconstructive Surgery, Scientific Research Institute of Eye Diseases, Moscow, Russian Federation
  3. 3 Faculty of Medicine, Lomonosov Moscow State University, Moscow, Russian Federation
  1. Correspondence to Professor Sergey Moiseev, Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow 119435, Russian Federation; clinpharm{at}mtu-net.ru

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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. …

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