Gaucher Disease Type 1
The most common form of Gaucher Disease, a genetic disorder that affects many body systems.
Impact of Gene Variants
Gaucher Disease Type 1 is caused by mutations in the GBA gene, which codes for the glucocerebrosidase enzyme. These mutations lead to reduced or absent enzyme activity, resulting in the accumulation of glucocerebroside and the formation of Gaucher cells.
Ways to Recognize Problems
Symptoms of Gaucher Disease Type 1 include hepatosplenomegaly (enlarged liver and spleen), anemia, easy bruising, bone pain, and decreased platelet count. Diagnosis involves blood tests to measure enzyme levels, imaging studies (such as MRI or CT scans) to assess organ enlargement, and bone marrow biopsy to detect Gaucher cells.
Ways to Improve
Treatment for Gaucher Disease Type 1 focuses on enzyme replacement therapy (ERT), which involves administering synthetic enzymes to compensate for the deficient glucocerebrosidase. Supportive care, such as pain management, physical therapy, and monitoring for complications like bone disease or anemia, is also essential. Additionally, research into new therapies and genetic counseling for families at risk of the disease can improve outcomes for affected individuals.
Did you know
Type 1 affects 1 in 50,000 to 1 in 100,000 people worldwide.
