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Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1
Paula Grigorescu-Sido1, Cristina Drugan, Camelia Alkhzouz
11st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania.
Insights
This study details Gaucher disease type 1 in Romania, finding enzyme replacement therapy (ERT) improves blood counts and organ size. Early, optimal ERT dosage is crucial for managing this rare genetic disorder.
Area of Science:
- Genetics
- Rare Diseases
- Biochemistry
Background:
- Gaucher disease type 1 is a rare genetic disorder.
- This study focuses on Romanian patients with Gaucher disease type 1.
- Diagnosis is confirmed by enzymatic and molecular methods.
Purpose of the Study:
- To present clinical and genetic characteristics of Romanian patients with Gaucher disease type 1.
- To analyze treatment outcomes with and without enzyme replacement therapy (ERT).
Main Methods:
- Fifty Romanian patients with Gaucher disease type 1 were assessed.
- Clinical status, hematological parameters, organ volumes, and bone density were monitored.
- Thirty-nine patients received imiglucerase (ERT) for an average of 3.1 years.
Main Results:
- The N370S/L444P genotype was common (35.9% of alleles), correlating with severe phenotypes.
- ERT normalized hemoglobin, platelet counts, liver volume, and chitotriosidase levels within 0.5-3 years.
- Splenomegaly regressed significantly, but bone mineral density worsened with a lower ERT dose (30 U/kg/2 weeks).
Conclusions:
- The N370S/L444P genotype is prevalent in this cohort, associated with severe Gaucher disease type 1 phenotypes.
- ERT effectively improved hematological parameters and visceromegaly.
- Optimal dosage and early initiation of ERT are essential for achieving therapeutic goals in Gaucher disease type 1.
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+/-13.6 U/kg/2 weeks) for 3.1+/-1.4 years.
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 15.5 years at clinical onset and 28.9 years 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 3 years of ERT, respectively. Splenomegaly regressed from 14.4 x N (normal) to 3.06 x N over four years of treatment. Bone disease was ameliorated under ERT, yet bone mineral density worsened in patients treated with 30 U/kg/2 weeks.
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.
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