[Diagnosis, assessment, and treatment guideline for Fabry disease]

Fabry disease is infrequent and thus, is still largely unknown to an important part of both the general and medical population. Diagnosis is difficult, and, since it is usually detected in advanced stages, it tends to be associated with important morbidity and a poor prognosis. Knowledge of the disease has developed considerably in the last decades, and recently, the availability of a specific therapy has modified patients' prognosis considerably. In 2008 GMEEF was created as a group of Mexican physicians with specific qualifications for the management of Fabry disease, who decided to establish the following guidelines to address our country's needs, in order to increase the knowledge and develop uniform criteria for the management of Fabry disease patients.