Gaucher Disease: Exploring the Genetic and Clinical Frontiers of a Multifaceted Condition

• DOI: https://doi.org/10.22533/at.ed.1594762413088

• Palavras-chave: Gaucher Disease, Enzyme Replacement, Neurological Phenotypes.

• Keywords: Gaucher Disease, Enzyme Replacement, Neurological Phenotypes.

• Abstract:

  Gaucher disease (GD) is a rare and inherited condition that manifests mainly in childhood. It is caused by the lack of the enzyme glucocerebrosidase, resulting in the accumulation of fat in the tissues, which causes osteopenia, hepatomegaly, splenomegaly, anemia, fatigue, thrombocytopenia and bruising. GD is divided into three types: type 1 is the most common and chronic, presenting bone deformities and enlarged organs; type 2 is rarer and fatal up to two years of age, with serious neurological problems; type 3, in turn, begins in childhood and includes bone, ocular and neurological symptoms, with a longer life expectancy than type 2, allowing many patients to live until adolescence or beyond. However, there is still much to be studied about GD, due to several gaps in the understanding of its mechanisms. The objective of this systematic review is to gather and analyze existing studies on this disease, aiming to expand knowledge with updated and in-depth information. To this end, a systematic review of studies found in the National Library of Medicine and Virtual Health Library (PubMed/BVS) databases was conducted. Commentaries, editorials, conference reports, and studies that did not meet the inclusion criteria were excluded: publication date after 2014, lack of empirical data, or old articles that were inaccessible in full. In total, 12,322 articles were found and, after applying the filters, inclusion and exclusion criteria, and removing duplicate articles, 29 articles were selected for the review. The articles highlighted the impact of GD on different organ systems, addressing body physiology and hepatosplenic pathology related to glucocerebrosidase deficiency, in addition to discussing aggravations, treatments, and associated diseases. As science advances, it is expected that GD will become better known, allowing for more accurate diagnoses and more effective treatments.