Endocrine Abstracts

JOINT79

Background: The cornerstone of current pharmacologic management of Duchenne muscular dystrophy (DMD) is glucocorticoid (GC) therapy initiated at a young age. Chronic high-dose daily GC treatment causes adrenal suppression that can result in potentially life-threatening adrenal insufficiency (AI). Despite the potential severity of this complication, it is not known what guidance pediatric endocrinologists and neurologists in Italy provide regarding the risk of AI.

Methods: Online survey distributed via email to Italian endocrinologists and neurologists involved in the care of young people with DMD.

Results: A total of 35 physicians responded to the survey (57% endocrinologists, 43% neurologists). Most respondents (57%) managed between 11 and 50 patients, with neurologists caring for a greater number of patients than endocrinologists (P=0.013). The most commonly used GC regimen was daily deflazacort (86%), followed by daily prednisone (26%), intermittent deflazacort (14%), and intermittent prednisone (3%). For minor stress (e.g., cold without fever), most respondents (80%) did not recommend any additional treatment, with a significant difference between neurologists and endocrinologists (93% vs. 70%, P=0.027). For moderate stress (e.g., febrile illness, vomiting, diarrhea but able to take oral intake), 31% recommended oral hydrocortisone (HC), 17% suggested an additional dose of deflazacort/prednisone, and 9% recommended parenteral HC. In cases of major stress (e.g., painful long bone fracture, vomiting or diarrhea with inability to take oral intake, general anesthesia, surgery), 77% recommended parenteral HC, yet 14% still did not advise any additional treatment. Although 82% of respondents reported providing education on AI management (from endocrinology team in 41%, neurology team in 26%, both in 15%), only 43% supplied a prescription and instructions on how to administer intramuscular HC. Furthermore, while 71% provided a written emergency plan for steroid management during illness or stress, only 37% had an alert in the hospital system, and 31% recommended wearing a steroid-dependent alert bracelet/card.

Conclusions: To our knowledge, this is the first survey addressing AI management practices among physicians caring for individuals with DMD in Italy. Most physicians involved in DMD care manage fewer than 50 patients. There are notable differences in approach for minor, moderate, and major stress, with nearly a quarter of respondents not prescribing parenteral hydrocortisone in major stress situations. Additionally, the majority of patients do not receive practical education or prescriptions for parenteral hydrocortisone. There is a clear need for enhanced education on AI risk in DMD, particularly regarding specific situations common in DMD patients (e.g., fractures, bisphosphonate infusion).