Exploración del diagnóstico tardío en la enfermedad de Gaucher: perspectivas de una encuesta comunitaria y posibles...

Gaucher disease is a rare lysosomal storage disorder caused by insufficient activity of the enzyme β-glucocerebrosidase. This leads to the accumulation of fatty deposits in cells and tissues and damages multiple organ systems. Diagnosing Gaucher disease often involves a prolonged and challenging "diagnostic odyssey". The International Gaucher Alliance (IGA) conducted a survey among individuals living with Gaucher disease, including patients, families, and caregivers, to investigate diagnostic challenges. Distributed primarily in English language, with a Spanish translation for relevant IGA members, the survey was completed by 142 respondents from 40 different countries between November 2024 and February 2025. The study aims to guide future efforts to promote timely diagnosis, access to expert management, and treatment before irreversible damage occurs. Early diagnosis also brings emotional and practical benefits, including informed family planning and support networks.

The survey revealed that diagnostic delays remain prevalent, with 58% of respondents waiting more than a year for diagnosis. Key contributors to delays included low awareness among physicians and inadequate communication between medical specialties. Common "red flag" symptoms identified in guidelines were often linked to eventual diagnosis, highlighting the need to educate healthcare professionals, especially those likely to encounter patients but not consider Gaucher disease (e.g., internal medicine specialists and gastroenterologists). Notably, 17% of respondents were not made aware of the genetic nature of Gaucher disease when they were diagnosed, potentially missing opportunities to identify affected relatives or influence family planning. Respondents suggested that increased awareness among healthcare professionals, expanded access to newborn screening, and greater availability of genetic and enzymatic testing could significantly accelerate the process.

As well as continuing to engage in education and awareness activities for specialists that commonly diagnose Gaucher, targeted awareness campaigns for secondary care clinicians that do not commonly diagnose Gaucher, but are regularly seen in the journey to diagnosis could reduce diagnostic delays. Providing lay-friendly resources to help specialists explain genetic inheritance to newly diagnosed patients may enhance early family diagnoses. Country-specific surveys to understand local diagnostic experiences could shape tailored interventions. Lastly, advocacy efforts to address access barriers, should amplify patient voices and prioritise community needs.