Clinical Presentation of Gaucher Patients

GAUCHER

GENETIC PROFILE

Gaucher disease is inherited in an autosomal recessive manner. If both parents are carriers of the diseasecausing allele, their child has a 25% chance of being affected with Gaucher disease. Males and females have an equal chance of being affected.^3,6

More than 480 pathogenic variants in the GBA gene are associated with Gaucher disease. N370S [N409S], L444P [L483P], 84GG, and IVS2+1 are the most common pathogenic variants of the GBA gene.⁸

Homozygosity for L444P (c.1448T>C) is associated with neuronopathic form of the disease and occurs in more than 70% of GD3 patients. 8 Worldwide prevalence of neuronopathic Gaucher disease varies substantially by region: East Asia and Middle East 1255%, North America and Europe 5%. ^9-12

IMPORTANCE OF EARLY DIAGNOSIS

Delays in diagnosis of Gaucher disease are common. A patient with Gaucher disease may experience a delay of up to 10 years.⁷

Gaucher disease is progressive, yet almost 25% of patients do not get timely access to appropriate disease management because of delays in diagnosis.²

HOW TO DIAGNOSE

A simple enzyme activity test can be performed on a DBS (dried blood spot).

A positive DBS enzyme assay is highly indicative of Gaucher disease, but an analysis from a whole blood sample is required to confirm the diagnosis.⁷

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