Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
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View abstract on PubMed
Summary
This summary is machine-generated.Gaucher disease (GD) patients often exhibit endocrinological abnormalities like hyperinsulinism and low HDL, though typically not severe. Regular endocrine assessments in GD patients are crucial for long-term management and monitoring enzyme replacement therapy effectiveness.
Area Of Science
- Endocrinology
- Genetics
- Metabolic Disorders
Background
- Gaucher disease (GD) is a lysosomal storage disorder due to glucocerebrosidase (GCase) deficiency.
- Sphingolipid accumulation in macrophages leads to inflammation and organ infiltration.
- This inflammatory state may impact the endocrine profile of GD patients.
Purpose Of The Study
- To investigate the prevalence of endocrinological abnormalities in Gaucher disease patients.
- To assess the relationship between GD and hormone levels, lipid profiles, and bone mineral density.
- To evaluate the potential impact of enzyme replacement therapy (ERT) on these abnormalities.
Main Methods
- A cohort of 13 Gaucher disease patients (12 non-neuronopathic, 1 subacute neuronopathic) was studied.
- Patients had a median treatment duration of 13.33 years with enzyme therapy.
- Endocrinological parameters, including hormone levels, lipid profiles, and bone density, were assessed.
Main Results
- Nine out of 13 patients showed at least one endocrinological abnormality.
- Hyperinsulinism was the most frequent finding; all patients had normal glucose and HbA1c.
- Osteopenia/osteoporosis affected two patients each, and low HDL was observed in six patients.
Conclusions
- Endocrinological abnormalities are common in GD patients but may not cause severe immediate morbidity.
- Potential long-term comorbidities include thyroid, insulin resistance, and lipid profile issues.
- Routine endocrinological assessment is recommended for GD patients to manage potential complications and assess ERT efficacy.
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