Demographic Studies from a National Gaucher Disease Screening Program.

Area of Science:

• Genetics and Genetic Diseases
• Rare Diseases
• Metabolic Disorders

Background:

• Gaucher disease is a rare genetic disorder.
• Early diagnosis and recognition are crucial for management.
• A nationwide screening program was established to address these needs.

Purpose of the Study:

• To assess the effectiveness of a self-selected screening program for Gaucher disease.
• To identify individuals with undiagnosed Gaucher disease.
• To analyze reported symptoms and risk factors.

Main Methods:

• A self-report screening form collected data from 700 individuals on symptoms, age, ancestry, gender, and family history.
• Individuals designated "high risk" were offered beta-glucocerebrosidase enzyme assay testing.
• Statistical analysis compared symptom reporting between high-risk and low-risk groups.

Main Results:

• Gaucher disease was diagnosed in 3.4% (24/700) of respondents.
• The most frequent symptoms reported were fatigue, bone pain, and bruising.
• Liver enlargement and unexplained bone fractures were statistically significant indicators of high risk.

Conclusions:

• The screening program successfully identified individuals with Gaucher disease.
• Symptom reporting can aid in identifying individuals at high risk.
• Further research is needed to understand symptomatology in affected versus unaffected individuals.