Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that often presents in early childhood and is associated with damage to multiple organ systems. Many challenges associated with GD diagnosis and management arise from the considerable heterogeneity of disease presentations and natural history. Phenotypic classification has traditionally been based on the absence (in type 1 GD) or presence (in types 2 and 3 GD) of neurological involvement of varying severity. However, patient management and prediction of prognosis may be best served by a dynamic, evolving definition of individual phenotype rather than by a rigid system of classification. Patients may experience considerable delays in diagnosis, which can potentially be reduced by effective screening programs; however, program implementation can involve ethical and practical challenges. Variation in the clinical course of GD and an uncertain prognosis also complicate decisions concerning treatment initiation, with differing stakeholder perspectives around efficacy and acceptable cost/benefit ratio. We review the challenges faced by physicians in the diagnosis and management of GD in pediatric patients. We also consider future directions and goals, including acceleration of accurate diagnosis, improvements in the understanding of disease heterogeneity (natural history, response to treatment, and prognosis), the need for new treatments to address unmet needs for all forms of GD, and refinement of the tools for monitoring disease progression and treatment efficacy, such as specific biomarkers.

Zhan and colleagues describe hematologic, visceral, and chemical biomarker outcomes in 28 Chinese individuals (17 children and 11 adults) with Gaucher disease (

Aims : Using an investigator-designed survey tool to confirm that adult patients with type 1 Gaucher disease (GD1) often self-prescribe cannabis products to try to alleviate symptoms such as lingering fatigue, chronic bone and joint pain, loss of energy, anxiety, and depression that persist despite enzyme replacement therapy (ERT) or substrate restriction therapy (SRT). Additionally, to explore whether patient reports of symptom relief and adverse side effects relate to frequency and duration of cannabis use. Methods : We conducted an anonymous, cross-sectional questionnaire study to elicit GD1 patient-reported experiences with cannabis used to alleviate symptoms they attributed to their underlying disease. Eligible participants included individuals with GD1 aged ≥ 18 years, regardless of sex, gender, country of residence, ethnicity, state of health or GD1 treatment status. The questions included basic socio-demography (n = 9), GD diagnosis and pre-treatment signs and symptoms (n = 16), GD treatment information (n = 9), current GD symptoms (n = 12), concurrent manifestations of Parkinson’s disease (n = 6), details of cannabis use (n = 24), perceived effect of cannabis on symptoms (n = 13), and interest in participating in future studies (n = 2). Results: 159 GD1 adults (81.5% US) responded to advertisements on patient online sites or to informational posts in advocacy group newsletters. The most frequent pre-treatment symptoms were fatigue (83.8%), bone or joint pain (79.7%), and bleeding problems (73.0%). Hemostasis substantially improved, but pain, achiness, fatigue, and anxiety often persisted. Sixty-two respondents (39%) reported very heterogeneous cannabis use. There was a positive association between the severity of persistent symptoms and the likelihood of cannabis use. Cannabis users reported improvements in muscle pain (84.3%), bone pain (82.4%), joint pain (82.4%), anxiety (70.6%), and general achiness (66.7%). However, moderate and extreme bone manifestations, fatigue, breathing problems, memory loss, and episodic dyscoordination were more prevalent among frequent users of inhaled cannabis than among non-users. Conclusion: Our results justify further investigations to determine the efficacy and safety of cannabis specifically for GD1 patients. Although randomized controlled trials would be optimal, well-designed observational GD registry studies may be a more practical approach. Although some patients may be reluctant to talk openly with their doctors about cannabis, they should routinely be queried about such use by primary care physicians and GD specialists who, in turn, must be able to provide informed guidance on safety, dosage, and potential interactions with other medications the patient is using.