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Abstract

Aim: Gaucher disease is the most common Lysosomal Storage Disease (LSD). Although the incidence of GH is 1/40,000-1/60,000, it is more common especially in Ashkenazi Jews. GH can be seen in one person out of 450 in this community. GH is an autosomal recessive disease. Because consanguineous marriages are high in Turkey, the incidence of autosomal recessive diseases is also high. In local studies, the incidence in our country has been determined as 2.3/1,000,000. Patients are usually diagnosed in childhood. However, there are also adult patients whose diagnosis is delayed because the symptoms are not obvious and they are not evaluated in terms of metabolic disease. This study was planned to emphasize the importance of the need for evaluation in terms of metabolic diseases in patients who were examined for etiology due to hepatomegaly, splenomegaly and/or thrombocytopenia findings.

The aim of our study is to consider Gaucher's disease in adult patients with findings such as splenomegaly, hepatomegaly and/or thrombocytopenia, which are common reasons for admission to internal medicine outpatient clinics.

Materials and methods: The study was planned as a retrospective, single center study. 91 people (47 women, 44 men) who applied to Ankara city hospital internal diseases polyclinics between 2020-2022 and were investigated for splenomegaly (>12 cm), hepatomegaly (>14 cm) and/or thrombocytopenia (plt<150.000/mm³) findings) was included.

Results: 91 cases with hepatomegaly, splenomegaly and/or thrombocytopenia who met the inclusion criteria were included in our study. Glucocerebrosidase enzyme level was normal in 79 patients (86.8%); beta glucosidase enzyme level was found to be low in 12 patients (13.2%). Mutation analysis was performed in patients with low enzyme levels. Mutation was detected in 3 (25%) of 12 patients with low enzyme levels. These patients were considered to have Gaucher disease. No mutation was detected in the other 9 patients (75%). As a result of our study, one of the 3 patients who were accepted as GH was able to receive enzyme replacement therapy. We lost our other two patients due to complications related to GH at the time of diagnosis.

Conclusion: Gaucher is a condition that can be easily diagnosed as long as there is sufficient awareness, and although it cannot be completely eliminated, a significant reduction in mortality and morbidity will be achieved with replacement therapies.