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Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication

Tosi M, Catteruccia M, Cantarutti N, Perrotta D, D'Amico A

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2025

Abstract

Introduction: Fat embolism syndrome (FES) is a rare but potentially life-threatening complication of long bone fractures, typically described in high-energy trauma. In patients with Duchenne Muscular Dystrophy (DMD), even minor trauma can result in FES, owing to long-standing osteoporosis and prolonged corticosteroid therapy, and the recognition can be challenging.

Materials and methods: We report a case series of three non-ambulatory patients with DMD who developed fat embolism syndrome following traumatic events. Clinical presentation, diagnostic challenges, and management strategies were retrospectively analyzed.

Results: All three patients presented with features consistent with FES, with diagnostic difficulties related to atypical mechanisms of injury and overlapping neuromuscular symptoms. Timely supportive management led to favorable clinical outcomes in all cases.

Discussion: These cases illustrate the critical need to closely consider FES in DMD patients who experience unexplained respiratory or neurological decline following trauma.

Conclusion: Prompt recognition and a multidisciplinary approach are critical to minimizing morbidity and supporting recovery.

How strong is the evidence?

Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.

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