Hidden Peril: Single Center Incidence of Fat Embolism Syndrome in Duchenne Muscular Dystrophy
Shadi Shams1, Brittany Passiak1, Marie Sweat1
1Child Neurology, UC San Diego
Objective:
This study aims to characterize the incidence, presentation, and outcome of Fat Embolism Syndrome in Duchenne muscular dystrophy.
Background:
Duchenne muscular dystrophy (DMD) is associated with osteoporosis and bone fragility from progressive muscle weakness and chronic glucocorticoid exposure. This leads to a high risk of fractures, especially long bone fracture (LBF) and severe complications such as Fat Embolism Syndrome (FES) with high mortality. The prevalence of FES remains unknown, with limited data from case reports. One 2024 review identified 7 deaths (30%) among 23 cases.
Design/Methods:
We conducted a retrospective chart review of genetically confirmed DMD patients seen at a single institution between 2015-2025. Patients with less than one year of follow-up, fewer than 2 visits, or unrelated comorbidities affecting fracture risk were excluded. Data on LBF, FES, mechanism of injury, ambulatory status, duration of steroid use, and bisphosphonate therapy were collected. Association between LBF, steroid exposure, and ambulatory status was analyzed using Cox regression model.
Results:
Of 126 patients, 97 (73%) received chronic steroid and 17 (13.5%) bisphosphonate therapy. 38 (30.2%) sustained ≥1 LBFs, 92% from a low impact mechanism. Among single-fracture cases, 71.1% had >3 months of steroid use, 50% were non-ambulatory at time of injury, and only 2.6% had bisphosphonate therapy prior to the first LBF. FES occurred in 6 patients (4.7%), all but one non-ambulatory at time of fracture and injured by low-impact mechanism. All required ICU-level care, with one fatality. Age at time of FES ranged from 11-15 with average >10 years of steroid exposure.
Conclusions:
LBFs are common in DMD often following a minor trauma, posing a substantial risk for FES resulting in irreversible decline and high mortality. This is the first study identifying FES incidence in a single center cohort underscoring the need for vigilant bone health monitoring and early preventive interventions in this high-risk population.
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