From Symptoms and Signs to Diagnosis in a Rare Disease, Type I Gaucher Disease

Abstract

Abstract Gaucher disease is the most frequent lysosomal storage disease, caused by the deficiency of an enzyme called β-glucocerebrosidase. Three types of Gaucher disease are described. Type I Gaucher disease benefits from lifelong enzyme replacement therapy with imiglucerase. Herein, we present the case of a 34-year-old female patient, a commercial worker, who was admitted to our Department of Haematology in the Emergency Clinical Hospital of Constanta in order to investigate the aetiology of a persistent splenomegaly. Clinical examination and laboratory testing evidenced the following: splenomegaly, hepatomegaly, anaemia, leukopenia and neutropenia, thrombocytopenia, and a myelogram showing Gaucher cells. In this context, the suspicion of Gaucher disease was raised and the investigations were further completed through specific enzyme testing and genetic testing. The low values of lysosomal enzymes, coupled with the detection of two specific genetic mutations confirmed the diagnosis of Gaucher disease. In January 2017, treatment with 2400U of imiglucerase in intravenous perfusion every two weeks was begun.