Introduction:

Gaucher disease is an entity of lysosomal accumulation, with an autosomal recessive inheritance pattern, due to the deficiency of the acid betaglucocerebrosidase enzyme. The gene is mapped on chromosome 1q21 and more than 500 mutations have been described. It is characterized by anemia, thrombocytopenia, hepatosplenomegaly, skeletal manifestations and sometimes neurological involvement. Among the treatments, enzyme replacement with imiglucerase is used.

Objective:

To evaluate the results of the application of imiglucerase in patients with Gaucher disease.

Methods:

A longitudinal, descriptive study to evaluate the behavior of the clinical, hematological and ultrasonographic variables of eight Cuban patients with Gaucher disease after receiving enzyme replacement treatment was carried out. They were evaluated after one, five and ten to fifteen years of treatment.

Results:

At debut, all patients presented anemia, and the majority showed thrombocytopenia and hepatosplenomegaly at diagnosis of the disease. Patients with neurological manifestations and the L444P mutation in a homozygous state were classified as type 3 GD, the rest as type 1. In all patients, an increase in hemoglobin levels, an increase in the number of platelets and a reduction in hepatosplenomegaly was observed after one year of treatment. Patients with type 3 maintain neurological involvement. No adverse reactions to the medication were reported.

Conclusions:

Enzyme replacement therapy with imiglucerase (Cerezyme®) is a fundamental pillar in the treatment of patients with this disease, which positively influences quality of life, obtaining better results with its onset in pediatric age.

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