An Overview of Gaucher Disease
Author Information
Author(s): Méndez-Cobián Daniela Anahí, Guzmán-Silahua Sandra, García-Hernández Diana, Conde-Sánchez Julian, Castañeda-Borrayo Yaocihuatl, Duey Kylee Louise, Zavala-Cerna Maria G., Rubio-Jurado Benjamín, Nava-Zavala Arnulfo Hernán
Primary Institution: Unidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico
Hypothesis
This study aims to review Gaucher disease’s epidemiology, clinical manifestations, and treatment options to enhance early diagnosis and optimize treatment outcomes.
Conclusion
Early diagnosis and individualized treatment, primarily through enzyme replacement therapy, significantly improve the prognosis of patients with Gaucher disease, particularly type 1.
Supporting Evidence
- Gaucher disease is the most prevalent lysosomal storage disease, with an incidence of 1 case per 40,000–60,000 births in the general population.
- Type 1 Gaucher disease is characterized by hepatosplenomegaly, pancytopenia, and skeletal involvement without neurological manifestations.
- Enzyme replacement therapy significantly improves clinical manifestations in patients with type 1 Gaucher disease.
Takeaway
Gaucher disease is a rare genetic disorder that can be treated effectively if diagnosed early, helping patients live better lives.
Methodology
This study is a comprehensive literature review analyzing epidemiological data, clinical presentations, and current therapeutic approaches for Gaucher disease.
Limitations
The study highlights the need for continued research to enhance therapeutic approaches for the neuropathic types and better understand the disease’s epidemiology in Mexico.
Participant Demographics
The study focuses on the Mexican population.
Digital Object Identifier (DOI)
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