Pain syndrome in Fabry disease: semiotics, diagnostics and treatment

V.B. Voitenkov^1,2, E.V. Ekusheva²

¹Children’s Scientific and Clinical Center of Infectious Diseases of the Federal Medical and Biological Agency, Saint Petersburg

²Federal Scientific Research Center of the Federal Medical and Biological Agency, Moscow

This literature data review deals with the information about semiotics, diagnostics approaches and treatment features of painful conditions in adults and children with Fabry disease. A painful syndrome is one of the most frequent and early manifestations of such disease, in which the neuropathic pain prevails. In the disease onset, there are common complaints about symmetrical pain in the fingertips, toes, soles, and other pain localizations. It has been shown that pain syndrome development significantly decreases the life quality of patients with Fabry disease. The fundamentally important and main treatment aspect of this disease is perhaps the earlier use of the agalsidasebeta drug-enzyme, which can significantly affect the further disease progression, the severity of pain and prevent the fatal cerebrovascular complications or renal failure development. All  of these complications also have a direct effect on the life expectancy of patients with Fabry disease. Besides, the article also discusses a wide range of symptomatic agents, in particular, non-steroidal anti-inflammatory drugs and therapeutic agents of other pharmacological groups, which are also used in pain syndrome in Fabry disease.

Keywords: Fabry disease, pain syndrome, neuropathic pain, agalsidasebeta, accumulation disease, gangliosidosis, Fabrazyme, replacement therapy.

For citation: Voitenkov V.B., Ekusheva E.V. Pain syndrome in Fabry disease: semiotics, diagnostics and treatment. RMJ. 2019;9:50–54.