Caso clínico de enfermedad de Fabry

Fabry disease (FD) is a hereditary, progressive lysosomal storage disorder that can threaten the patient’s life and diagnosis of which is often slow because of poor identification of the clinical symptoms. A clinical case of FD diagnosed at paediatric age is described here. The main symptoms experienced during childhoad were neuropathic damage, gastrointestinal problems, hypohidrosis and intolerance of heat and cold. After starting enzyme replacement therapy (ERT) at 14 years old, the patient experienced a clinical improvement in the different symptoms suffered, and plasma lyso-GL3 levels fell considerably. It suggests that ERT currently could offers the possibility of delaying the progression of the illness and even encourage the emission of some clinical symptoms in these patients, with an improved long-term prognosis. Early detection of the disease and starting treatment early are essential to ensure greater effectiveness.