Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

Abstract

Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and sudden worsening of respiratory and cardiac symptoms.

Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy

“…Compromised bone health in DMD patients has been reported by several groups and is thought to contribute to the increased rate of long bone fractures while the patients are ambulatory . In rare cases, development of fatty embolism syndrome follows fractures and can worsen already compromised cardiac and respiratory health in these patients . More commonly, changes in bone health result in the development of kyphosis and scoliosis that compromise posture, often resulting in a cascade of vertebral fractures and exacerbation of respiration difficulties in DMD patients .…”

“…(3,4) In rare cases, development of fatty embolism syndrome follows fractures and can worsen already compromised cardiac and respiratory health in these patients. (5) More commonly, changes in bone health result in the development of kyphosis and scoliosis that compromise posture, often resulting in a cascade of vertebral fractures and exacerbation of respiration difficulties in DMD patients. (6) Poor bone health is thought to result partly from a lack of proper mechanical loading on bone, (3) as well as chronic inflammation in dystrophic muscle that can stimulate osteoclastogenesis and bone resorption (4) and may also contribute to delayed bone fracture healing.…”

A traumatic traveler

“…2 There is conflicting evidence for the efficacy of heparin or low-molecular-weight heparin as treatment in FES. 2,6 After discussions with consulting physician teams, the patient, and his family, enoxaparin and aspirin were started for this patient in light of his tenuous condition in order to decrease the risk of further embolic complications.…”

“…1,6 This is believed to be caused by patients becoming nonambulatory early in life and receiving substantial corticosteroid therapy, which can lead to osteopenia and fatty replacement of the bone marrow. 1,6 This population is also often obese by the second or third decade of life, which contributes to their already increased propensity to fall. 1,6 To our knowledge, this patient is 1 of 18 reported cases of FES after trauma in DMD patients.…”

“…1,6 This population is also often obese by the second or third decade of life, which contributes to their already increased propensity to fall. 1,6 To our knowledge, this patient is 1 of 18 reported cases of FES after trauma in DMD patients. Two-thirds of these cases occurred when an unrestrained patient fell from their wheelchair.…”