Gaucher's disease: a review

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Gaucher's disease is the most common inherited lipid storage disorder, caused by glucocerebrosidase deficiency.
• This deficiency leads to glucocerebroside accumulation in the reticuloendothelial system, causing hepatosplenomegaly, bone lesions, and anemia.
• The disease has three subtypes: type 1 (non-neuronopathic) and types 2 and 3 (neuronopathic), with varying neurological involvement.

Purpose of the Study:

• To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease.
• To focus on the efficacy and role of enzyme replacement therapy (ERT) in managing Gaucher's disease, particularly type 1.

Main Methods:

• A comprehensive literature search of MEDLINE (1984-1995) and review of pertinent articles and tertiary sources.
• Selection of articles focusing on enzyme treatment and other relevant aspects of Gaucher's disease and its management.

Main Results:

• Enzyme replacement therapy with alglucerase and imiglucerase is available for Gaucher's disease.
• A dosage of 60 units/kg every 2 weeks has shown effectiveness in reducing organomegaly and improving hematological parameters and growth in type 1 patients.
• While ERT improves quality of life and general symptoms, bone disease response is slower, and its role in neuronopathic subtypes is still under investigation.

Conclusions:

• Enzyme replacement therapy offers significant clinical benefits and improved quality of life for type 1 Gaucher's disease patients within the first year.
• The established dosage of 60 units/kg every 2 weeks is clinically beneficial for moderate to severe cases.
• Lower dosage regimens are being explored, with some showing satisfactory responses in certain patients.