Gaucher Disease: Prevalence, Risk Factors, and Symptoms

PREVALENCE The criteria for the inclusion of studies for GD include conducting field surveys for case collection, and using population samples rather than volunteers, In the general population, the global prevalence of Gaucher Disease (GD) was 0.9 cases per 100,000 inhabitants. Global incidence est...

PREVALENCE The criteria for the inclusion of studies for GD include conducting field surveys for case collection, and using population samples rather than volunteers, In the general population, the global prevalence of Gaucher Disease (GD) was 0.9 cases per 100,000 inhabitants. Global incidence estimates for GD overall ranged from 0.45 to 25.0 per 100,000 live births, Prevalence estimates per 100,000 population for any GD ranged from 0.02 to 139.0 estimates were higher in North America (0.60-139.0) than other regions, including the Middle East (0.20-20.2), Europe (0.02-1.1), and Latin America (0.15-0.32). The highest prevalence estimate was from a population of Ashkenazi Jewish descent in North America (139.0). the age of onset might range from childhood to adulthood, individuals with Gaucher disease type 1 typically experience symptoms during adolescence. Gaucher disease type 2 begins to appear in early infancy. Type 3 Gaucher disease can start at any age, but it usually does so in childhood or adolescence. RISK FACTOR family history / parents have a 25% chance of having an affected child with two changed genes. Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher-changed (mutated) gene for their child to inherit the condition. Genetic mutations / In this condition, mutations in the GBA gene affect the function of the beta-glucocerebrosidase enzyme. These mutations can be inherited from parents additionally Having certain mutations increases the likelihood of developing Gaucher disease. Age/ The risk of developing this disease increases with age. Gaucher disease usually appears early in life, but it may also appear later in life. Generally, the older a person is, the more likely they are to develop Gaucher disease. Gender/ Females are more susceptible to infection than males