V Velmishi, D Bali, E Dervishi, V. Durro and P Cullufi
Aim: Gaucher disease is a multisystemic disorder characterized by glucocerebrosidase enzyme deficiency. The aim of this study was to present clinical aspects and diagnostic data of 19 patients (17 type 1, 2 type 3) in our service.
Methods: Clinical findings, genetic analysis, laboratory work up, liver and spleen volumes were analyzed for 19 patients.
Results: Mean age was 17 years (5-32 years); mean age at diagnosis was 11, 4 years (5-31 years). Most common presenting symptom was splenomegaly (all patients). Most frequent mutation was heterozygous N370S. One patient had severe anemia before the treatment. 16 patients had thrombocytopenia. All patients had high level of chitotriosidase before the treatment (240 times higher than normal value).
Conclusion: There is a large variety of clinical signs in Gaucher disease. In our experience a proper investigation of patient followed by further expensive examinations is the cornerstone of diagnostic.