Özet:

Gaucher disease (GD) is a lysosomal storage disorder caused by deficiencies of the β-glucocerebrosidase enzyme due to mutations in the GBA (glucosidase beta acid) gene, and that leads to the abnormal accumulation of glucocerebroside in lysosomal macrophages. The aim of the present study is to increase awareness of GD by discussing findings related to adults. Here, we report on the clinical features, laboratory parameters, and molecular characteristics of 18 adult patients with non-neuronopathic GD, as well as the hematologic, skeletal, and visceral responses of 15 patients who underwent enzyme replacement therapy (ERT). The age of symptom onset was between 1.6 and 63 years, and there was a delay of mean 3.56 years (0–21 years) from the time of symptom onset to confirmation of diagnosis. Despite the fact that three of our patients had a pathology report supporting GD, they were unaware of their diagnosis, and their care was delayed for years as they were not recommended to see a specialist, or were unable to find one. Hepatosplenomegaly, anemia, and thrombocytopenia were present in most of the patients, and in nine of the 15 patients (60%) with thrombocytopenia, the condition was moderate. Osteopenia was present in 75% and avascular necrosis in 16.6%. The most common mutant allele detected in this cohort was N409S (previously N370S), followed by L483P (previously L444P), and S405T mutations were reported. Of the total,15 patients were able to undergo ERT, which significantly improved their hematologic parameters, especially in the first year, and decreased the sizes of the liver and spleen. Physicians, particularly those working in hematology and internal medicine, should suspect GD in any adult patient with bone pain and unexplained hematologic dysfunction, especially if organomegaly is present. A multidisciplinary team approach is needed for the management of multisystemic symptoms.

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