GAUSCH DISEASE: CURRENT PROBLEMS OF TREATMENT AND DIAGNOSIS
DOI:
https://doi.org/10.34132/mspc2025.01.08.04Keywords:
Gaucher disease, lysosomal enzyme deficiency, glucocerebrosidase, genetic aspects of the disease, enzyme replacement therapy, substrate reduction therapy, symptomatic treatment, prevention of Gaucher disease.Abstract
Gaucher disease is a serious hereditary disease that requires early detection, strict adherence to the medication regimen, and lifelong continuous treatment. There is no room for self-medication or folk methods when treating an orphan disease. If diagnosed with Gaucher disease, a person needs close medical supervision for many years. Since the disease affects various organs, medical care is provided by a team of doctors, including a hematologist, rheumatologist, orthopedist, gastroenterologist, neurologist, and psychiatrist. Modern medicine allows to significantly improve the condition of such patients. A special role belongs to the interdisciplinary approach and genetic counseling of families.
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