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Revista Virtual de la Sociedad Paraguaya de Medicina Interna

versión On-line ISSN 2312-3893


CODAS, Manuel et al. Neuropathic pain, let’s think of Fabry disease. Rev. virtual Soc. Parag. Med. Int. [online]. 2019, vol.6, n.2, pp.64-70.  Epub 01-Sep-2019. ISSN 2312-3893.

Pain is the most common reason for consulting and seeking medical attention, and the one that presents the greatest difficulty in receiving a patient is neuropathic pain. One of the neuropathies of small fibers par excellence is Fabry Disease, a little known disorder. The objective of this review was to collate the available bibliography to determine the key points in the management of this disease, using search tools such as Up To Date, Pubmed and Google Scholar. After reviewing more than 30 scientific articles, it was concluded that the characteristic pain and thermal hyposensitivity are due to the accumulation of glycolipids that produce a neuropathy of small fibers. This is associated with a picture of burning pains in the hands and feet that can present great difficulty at the time of diagnosis and treatment. Thus, suspecting the diagnosis involves a series of steps from the clinical history and physical examination, which are of great importance, to the percentage biochemical determination of the absence of activity of alpha-galactosidase A until neurological and histological examinations. It was concluded that the clinical characteristics of this disease may be typical in most patients, however, the pathophysiology underlying the problem should be known and the management of chronic pain should be differentiated from that of pain crises. This is imperative because of the importance of establishing the specific therapy as soon as possible.

Palabras clave : Fabry disease; neuropathic pain; painkillers; diagnosis; enzyme replacement therapy; peripheral nervous system; small fiber neuropathy..

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