Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey

ABSTRACT

Management of Gaucher disease (GD) is challenging because of its wide genotypic and phenotypic variability. In addition, the appearance of effective therapies for GD1 (enzyme replacement therapy, ERT and later substrate reduction therapy, SRT) has shifted the paradigm of care, and recommendations for GD management should now include strategies for patients without treatment, long-term treated patients, reproductive health, and transition of care from children to adults. Here we present the results of a Delphi survey on the follow-up of GD patients in specific clinical situations in Spain. Sixteen face-to-face meetings with experts were held to discuss daily clinical practice and to identify controversies regarding the management of GD. With this information, a questionnaire with 93 recommendations for different clinical scenarios was designed, and a Delphi survey among 86 physicians with experience in GD patient care was conducted. Results show consensus in 73 out of the 93 items. Recommendations on follow-up of adult and pediatric patients were in line with current guidelines, and underscored the importance of a patient-tailored approach. For the follow-up of stable patients receiving long-term treatment, consensus was reached on the importance of multidisciplinary team collaborating with the expert physician in GD, and specialists with GD knowledge (nurses, primary care, specialized radiologists, etc.), when required. Consensus was reached on the frequency of follow-up depending on the disease evolution time, whether or not patients received treatment, clinical disease stability, and specific recommendations for pregnant patients were also stated. Experts stressed on the importance of asking about symptoms reflecting quality of life such as pain, use of analgesics, antidepressants, etc. Lastly, recommendations on how to adapt GD management during a COVID-19 pandemic were collected. This expert consensus will help decision-making during the management of GD in specific clinical scenarios.