Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1

Abstract 

Background/aim

To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT).

Patients, methods

There are fifty patients (F/M — 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter. Thirty-nine patients (78%) received imiglucerase (44.4±13.6U/kg/2weeks) for 3.1+/−1.4years.

Results

Based on general prevalence data, our group represents 22.7% of the expected total number of patients with Gaucher disease type 1 in Romania. Mean age was 15.5years at clinical onset and 28.9years at confirmation of diagnosis. The genotype N370S/L444P was frequent in our group (35.9% of alleles). Anaemia, thrombocytopenia, splenomegaly and bone disease were present at 38%, 70%, 100% and 84%, respectively.

Mean values for haemoglobin, thrombocytes, hepatic volume and chitotriosidase normalized after 0.5, 1.5, 2.5 and 3years of ERT, respectively. Splenomegaly regressed from 14.4×N (normal) to 3.06×N over four years of treatment. Bone disease was ameliorated under ERT, yet bone mineral density worsened in patients treated with 30U/kg/2weeks.

Conclusions

The genotype N370S/L444P is frequent in our patients, in line with the severe phenotypes. ERT improved haematological parameters and visceromegaly, without a clear benefit for bone mineral density. To attain therapeutic goals, an early treatment start with optimal dosage is mandatory.

Keywords: Gaucher disease type 1, Imiglucerase, Outcome