FES (All information taken from PPMD)

If you or someone you know falls, is dropped, or bumped and shows any major or minor symptoms, go immediately to the emergency room –  this is a life-threatening emergency. Symptoms due to fat embolism may develop quickly and become life-threatening in just a few hours. If it turns out not to be Fat Embolism Syndrome, that’s ok. It’s much better to suspect fat embolism and find pneumonia, for example, than the other way around.

• Major Symptoms: Difficulty breathing, Neurologic changes (confusion, headache, coma, seizures), Petechial rash (small dotted rash that develops 24-36 hours after the trauma, usually seen in the sclera of the eyes, under the arms, and/or chest). Make sure doctors check under the eyelids for petechial rash.

• Minor Symptoms: Heart rate over 140, Fever, Retinal (Eye) Changes, yellowing of skin or eyes, decreased platelet or red blood cell counts, fat particles in the blood.

Some emergency clinicians may not be aware or think about FES initially. It is important to notify the staff that FES is a possibility in Duchenne, requiring close medical examination and monitoring. Always notify your neuromuscular specialist that you are in the emergency room or admitted to the hospital; do not depend on the emergency staff to call them. They can help advocate on your behalf and should be aware of what is happening. 

Fat embolism syndrome (FES) is a series of complications that result from the presence of a fat emboli in the blood. FES most often develops as a result of a long bone fracture (most commonly the femur (leg) bones. Other long bones include the: tibia (shin bone), fibula (calf bone), humerus (upper arm bone) radius (forearm bone on the thumb side), ulna (forearm bone on the pinky finger side), metatarsals bones in the foot between the ankle and toes), metacarpals (bones in the palms of the hands), and phalanges (bones in the fingers and toes). However, FES can happen after any bone fracture or even after an injury that may not actually result in a fracture, such as a fall or a hard “bump” into something. 

Important things to remember: 

• Early oxygen saturation is important, and should be suggested if it is not initiated quickly. 
  • If your oxygen saturations are low and you require supplemental oxygen, be sure the clinicians use caution. Oxygen use in Duchenne requires close monitoring of CO2 levels (i.e. CO2 levels) as it can precipitate respiratory failure. The safest way to deliver oxygen is through non-invasive ventilation, such as a BiPAP machine. Do not hesitate to agree to have your child intubated if necessary for breathing support. If your provider is looking to use supplemental oxygen, scroll down to get important information on O2  and CO2 monitoring.
• Try to minimize physical movement while you are being evaluated for FES to prevent more fat emboli from being dislodged.
• If the emergency department doctors decide to admit you to the hospital for monitoring of FES, you should be admitted to an Intensive Care Unit (ICU). 

Studies/Tests to consider: 

• Eye exam: may detect fat globules in the retina and can be diagnostic of FES
• Arterial blood gas (checks oxygen in the arterial blood)
• CBC with diff (checks red blood cells and platelets)
• Cytological evaluation of urine, blood, sputum for fat
• Check ESR
• Chest X-ray (check for infiltrates; may develop over time, may need to repeat)
• CT scan (to rule out other reasons for symptoms)
• Brain MRI (check for fat emboli)
• Bronchoscopy may detect fat globules in the alveolar capillaries and alveoli

Don’t be afraid to reach out to other families, Jett Foundation, PPMD, or another advocacy organization if you need help. And don’t be afraid to be wrong – talk until someone listens!

For more information on FES, please watch our webinar with Dr. Han Phan here or go to PPMD’s website. 

Medications that should never be taken by individuals with Duchenne (Information taken from PPMD):

People with Duchenne should never receive the anesthetic ‘succinylcholine’ (suxamethonium). Whenever possible, inhaled anesthetic agents should be avoided and IV anesthesia used instead. 

• Please note, nitrous oxide or “laughing gas” commonly used for dental procedures is not considered an inhaled anesthesia and is typically safe in Duchenne.

Low O2 vs CO2 (Information taken from PPMD)

When extra or supplemental oxygen is given, the respiratory center may get the false impression that the body has enough oxygen and no longer needs to breathe. Without breathing, carbon dioxide can build to dangerous levels (called hypercapnia) that can result in death.

When your providers are discussing giving supplemental oxygen, here are some information to make sure it is done safely: Ways of giving supplemental oxygen and monitoring carbon dioxide safely include:

• Monitoring End-tidal CO2: Oxygen should never be given without constantly monitoring the level of carbon dioxide (CO2) in the exhaled breath (the “end-tidal CO2”) or the CO2 level in blood. A normal end tidal CO2 is between 30-45 mmHg. A CO2 level of greater than 45 mmHg is too high, and indicates that CO2 is not being expelled from the body.
• Testing Hemoglobin: Hemoglobin in the blood becomes saturated with oxygen that the blood takes to the body. If hemoglobin is tested and is found to not be saturated with oxygen, that too can be an indication that there is too much CO2 in the body and that not enough oxygen is getting into the blood.
• Providing Non-invasive Ventilation: Bi-PAP via mouthpiece or nasal cannula will assist with the mechanical process of breathing, delivery of oxygen, and removal of CO2.

Rhabdomyolisis (All information taken from PPMD)

Rhabdomyolysis occurs when massive amounts of muscle fibers breakdown and release myoglobin (a muscle protein) into the bloodstream. Rhabdomyolysis can be a life-threatening condition.

Rhabdomyolysis can happen with too much physical activity and dehydration or with exposure to certain types of inhaled anesthetics (i.e. during surgery or a medical procedure). In Duchenne, the fragile membrane around muscle fibers puts them at higher risk for breakdown. 

The “classic triad” of rhabdomyolysis symptoms include:

1. Dark red or brown urine or decreased urination
2. Muscle pain in the shoulders, thighs or lower back
3. Increased muscle weakness or trouble moving arms and legs

Other common signs: Abdominal pain, Nausea or vomiting, fever, rapid heart rate, confusion, or changes in consciousness. 

If urine becomes dark, aggressive hydration with oral fluids should be started and your neuromuscular specialist called.  Usually, with aggressive hydration, the urine will return to its normal color by the 3rd pee. If the urine does not return to its normal color by the 3rd pee, and rhabdomyolysis is suspected, go to the emergency room. Rhabdomyolysis can be reversible with prompt treatment.

In the emergency room, rhabdomyolysis should be treated with IV fluids and kidney function (evaluated by drawing blood to check a “renal panel”) should be checked.  Rhabdomyolysis should be treated as a medical emergency. IV fluids help maintain urine production as well as prevent kidney failure. Clinicians will also monitor and manage any electrolyte abnormalities to help protect the heart and other organs.