Um caso de acroparestesias, astenia e febre. Uma nova mutação em doença de Fabry

Fabry disease is an X-linked hereditary metabolic storage disorder, due to the deficiency in lysosomal alpha-galactosidase A, with the consequent glycosphingolipids accumulation, primarily globotriaosylceramide, at cellular level. Multiorganic involvement occurs progressively, leading to severe manifestations and even premature mortality.We describe a case of a 20 year-old man who was sent to Rheumatology because of inespecific symptoms that lasted for years, namely acroparesthesias and diffuse hand pain and autolimited flares of high fever and general muscular weakness. Despite denying cutaneous findings, a remarkable purplish-red rash of slightly raised angiectases in the lower trunk was present. This rash was diagnosed as angiokeratomas, and blood measurement of alpha-galactosidase A confirmed the suspicion of Fabry disease. He was referred to a rare disease consultation, where the evaluation revealed the presence of other characteristic findings, such as cornea verticilata and cerebral lacunar infarction sequelae. The authors want to remark the importance of physical examination in these cases of inespecific long-lasting symptoms, with no diagnosis and with functional impairment, and the importance of multidisciplinary evaluation and collaboration. We also highlight that this mutation was not as yet described. Keywords: Fabry disease; Acroparesthesias; Alpha-galactosidase A