Gaucher disease is one of the inborn errors of metabolism from lysossomal storage diseases and the most frequent of this group. It iss an autosomal recessive disease with reoccurrence risk of 25% in each pregnancy of hetrozygotes parents. The disease results from an b-glucosidase acid or b-glucocerebrosidase deficiency leading to accumulation of glucolipids mainly in the spleen, liver, bone marrow, and lung macrophages. The clinical manifestations of Gaucher disease depend on the enzyme deficiency level. There are three types of the disease, namely, Type I, corresponding to a non-neuropathic form affecting both adults and children with hepatosplenomegaly, anemia, thrombocytopenia, leukopenia, and bone lesions; Type II, corresponding to an acute neuropathic form affecting 4- to 5-month-old babies with a severe neurological condition, hepatosplenomegaly, and lung damage; Type III, corresponding to a chronic neuropathic form affecting both children and teenagers with less severe neurological conditions than Type II, besides being able to cause damage to liver, spleen and bones. A group of fourteen physicians experienced in treating Gaucher disease by enzyme replacement therapy has performed an extensive literature review on the subject and compared data of the evolution of Brazilian patients, having reached a consensus as regards the criteria to start treatment, the enzyme doses and frequency of infusions, as well as medical evaluations and laboratory and radiological monitoring. The purpose of this pioneering initiative is to standardize the conduct within the country, of Gaucher disease treatment using enzyme replacement therapy, which is an expensive treatment but with an expressive efficacy.
Gaucher disease; deposit disease; Brazil