lntroduction:

Gaucher disease (GD) is a rare hereditary disease, caused by a deficiency of the enzyme glucocere­brosidase. Manifestations may include hepatosplenomegaly, cytopenia, bone disease and neuro/ogical symptoms. Early diagnosis and timely treatment improve the prognosis of these patients.

Methods:

Retrospective and longitudinal study, to characterize the patients with GD and understand the impact of treatment on disease progression. Clinical information was collected from the files of patients with GD under enzymatic rep/acement treatment (ERT), followed in an Internai Medicine consultation in 2019.

Results:

We present a case series from 5 (tema/e) patients with GD subtype 1 from a single institution, who were treated with ERT. The age at diagnosis ranged between 6 and 35 years. Three patients have histological diagnoses and 2 enzymatic diagnoses. AI/ were medicated with ERT (4 imiglucerase, 1 velaglucerase), and 3 were previously medicated with alglucerase. The age at onset of ERT ranged between 26 and 52 years-old. Prior to ERT, 80% had thrombocytopenia, 100% anaemia, 40% splenomegaly (although the remaining 60% were previously splenectomised), 100% hepatomegaly and 80% bane pain. After 6 months of treatment, there was a reduction in the volume of the sp/een and liver, improvement of anaemia and thrombocytopenia and improved bane pain. There was also a reduction in the levels of 13-D-chitotriosidase and tartar resistant acid phosphatase.

Conclusion:

ERT is effective in reducing cytopenia and liver and splenic volume in patients with GD, improving their quality of life.

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