Breaking a major bone is serious in itself — but for people with Duchenne muscular dystrophy (DMD), it carries additional risks. One of these is a rare but dangerous condition called fat embolism syndrome.
People with DMD and their caregivers should know the signs of fat embolism syndrome so they can get the right care as soon as possible if they appear.
What is fat embolism syndrome?
Fat embolism syndrome is a complication of bone fractures, most commonly of the long bones or the pelvis.
In fat embolism syndrome, fat droplets found within the hollow cavity inside the bone are dislodged and enter the bloodstream. Much like a blood clot, these fat particles then block the blood vessels, disrupting blood flow and oxygen delivery.
Fat embolism syndrome is rare, but can become life-threatening very quickly. Early diagnosis and hospital care are key to achieving the best outcomes.
Why is fat embolism syndrome a concern in DMD?
Young adults living with DMD are at a higher risk of fat embolism syndrome if they break a major bone.
One reason is because people with DMD often have osteoporosis, or brittle bones, increasing the risk of a bone fracture. In DMD, bones become fragile for several reasons. Bones need signals from the muscles to stay strong; because of the muscle weakness in DMD, the bones don’t get these crucial signals. Another reason is long-term treatment with steroids, which leads to bone weakness. Up to 75% of patients who take corticosteroids for DMD will have osteoporosis.
People with DMD also have more fat in their bone marrow, making it more likely for pieces of fat to enter the bloodstream after a fracture.
What are the symptoms?
Symptoms of fat embolism syndrome can often go unnoticed among the other cardiac and respiratory-related symptoms of DMD. They may also be mistaken for symptoms of other conditions, such as pneumonia, heart failure, stroke, brain injury or a pulmonary embolism.
The most common symptoms of fat embolism syndrome fall into three main categories:
- Respiratory: Difficulty breathing, rapid and shallow breathing.
- Neurological: Headache, sleepiness, confusion, agitation, seizures or loss of consciousness.
- Skin-related: A rash of tiny pinprick dots on the arms and/or chest or in the eyes that appears 24-26 hours post-trauma.
Other minor symptoms may include a rapid heartbeat, fever, jaundice, low platelet count, low red blood cell count and retinal changes.
Learn more about DMD treatment and care
How is fat embolism syndrome treated?
To avoid life-threatening consequences, it is important to get emergency care at the first sign of fat embolism syndrome. In people living with DMD, the respiratory and cardiac systems are more fragile and require close monitoring. If fat embolism syndrome is confirmed, admission to the ICU is likely.
There is no specific treatment for fat embolism syndrome — treatment will depend on a specific patient’s needs and symptoms.
These are some of the ways medical providers will treat the condition:
- If oxygen saturation is low, a bilevel positive airway pressure (BiPAP) machine is the best non-invasive way to boost it.
- Intubation to allow mechanical ventilation may be necessary for greater breathing support.
- Steroids to reduce inflammation in the lungs and help breathing.
- Blood thinning medication to prevent blood clots.
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