Introduction to Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease
Article Outline
LSD, Lysosomal storage disease
Currently, lysosomal storage diseases (LSD) consist of more than 45 disorders, accounting for 50% of the estimated incidence of all inborn errors of metabolism.1, 2 In the last decades, LSD has witnessed great therapeutic progress. Gaucher disease, characterized by visceromegaly, anemia, thrombocytopenia, and bone involvement, was the first experience with enzymatic replacement therapy; since then, enzymatic replacement therapy has demonstrated its efficacy by changing the natural history of Gaucher disease.3, 4 Fabry disease is characterized by onset in childhood, chronic pain of hands and feet, angiokeratoma, and gastrointestinal symptoms; in young adults, cerebrovascular, cardiac, and renal complications occur.5 Patients with Pompe disease can exhibit a severe, early-onset form with precocious cardiac manifestations and muscular compromise or a late-onset form that progresses with muscular weakness and respiratory failure.6 Mucopolysaccharidosis I is a devastating progressive disorder exhibiting facial dysmorphism, visceromegaly, multiple dysostosis, and short stature, as well as cardiac, ophthalmologic, respiratory, and central nervous system complications.7
In LSDs undegraded substrate storage occurs since the embryonic period; the speed of progression varies and will determine the expression of clinical manifestations. Gaucher, Fabry, and Pompe diseases, as well as mucopolysaccharidosis I, are multisystemic disorders, with several degrees of severity varying from symptom-free to lethal forms, or of high precocious mortality rates, all with a devastating impact in the quality of life of individuals affected. The multisystemic characteristic of these diseases requires a multidisciplinary, adjuvant, and specific team approach to effectively tackle therapeutic management. It is imperative to have guidelines to these diseases that contemplate well-defined inclusion and follow-up criteria, thus allowing for assessment of patient response to therapeutic management and long-term cost-benefit analysis.8, 9
Author Disclosure
Ana Maria Martins, MD, PhD has received from Genzyme travel expenses as part of continuous medical education and grants as coordinator for the Fabry Registry in Brasil (since 2002) and Member of the International Board of Advisors for the Fabry Registry (from 2007).
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The author declares no external funding or conflicts of interest.
PII: S0022-3476(09)00672-6
doi:10.1016/j.jpeds.2009.07.007
