The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001.

PMID: 35367141

Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani

Highlights: In this review, the challenges are investigated which physicians face in the diagnosis and management of Gaucher disease in pediatric patients.

Abstract

Background: Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disorder that frequently manifests in early childhood and is linked to harm to a number of organ systems. The vast range of disease presentations and natural histories presents many difficulties for GD diagnosis and management. The absence (in type 1 GD) or presence (in types 2 and 3 GD) of neurological involvement of varying severity has traditionally served as the basis for phenotypic classification. However, rather than a strict classification scheme, a dynamic, developing definition of an individual's phenotype may be better suited for patient care and prognosis prediction. Effective screening programs may be able to lessen the significant delays in diagnosis that patients may encounter; nevertheless, implementing the program may provide ethical and practical difficulties. Different stakeholder perspectives on efficacy and an acceptable cost/benefit ratio make decisions about treatment beginning more difficult due to variation in the clinical course of GD and an unknown prognosis.

Objectives: This article goes over the difficulties physicians encounter while diagnosing and treating GD in pediatric patients. The study also takes into account future directions and objectives, such as accelerating accurate diagnosis, enhancing our comprehension of the heterogeneity of the disease (natural history, response to treatment, and prognosis), the requirement for novel therapies to address unmet needs for all types of GD, and improving the tools for tracking the course of the disease and the effectiveness of therapies, such as specific biomarkers.

Keywords: Biomarker, Classification, Lysosomal storage disease, Phenotype, Screening, Treatment