February 20, 2019 / Care

PPMD Contributes to Clinical Practice Recommendations for Managing Adrenal Insufficiency Risk in Duchenne

Long term glucocorticoid (steroid) therapy has many clear benefits such as improving muscle strength and maintaining cardiac and pulmonary function. However, prescribed steroid (prednisone, Emflaza, or deflazacort) regimens need to be followed closely to avoid dangerous side effects. A question we are asked most often is “what happens if a dose is missed?” The simple answer is missing steroid dose(s) can be potentially dangerous, and an emergency protocol or plan needs to be discussed with your doctor to ensure your child remains safe on steroid therapy.

The story of PJ Nicholoff, a young man who was diagnosed living with Duchenne who had endured surgical correction of several fractures and had not been given his daily doses of steroids, helps to demonstrate the importance of missing doses. After the death of PJ, his family worked closely with PPMD to develop and publish the “PJ Nicholoff Steroid Protocol,” a resource that has helped many patients educate medical providers on the importance of both not missing doses and receiving stress doses in emergencies. This protocol has been widely published in the US a globally, and is now translated into Spanish as well.

In an effort to further validate this protocol for the medical community, Dr. Sasi Bowden (Nationwide Children’s Hospital), Dr. Anne Connolly (Washington University), Kathi Kinnett (PPMD), and Dr. Philip Zeitler (Children’s Hospital Colorado) have recently published an article in the Journal of Neuromuscular Diseases which outlines what adrenal insufficiency means, and why it is important to discuss this phenomenon with your neuromuscular specialist. These authors have designed a “quality-improvement” diagram that include strategies and interventions to help increase awareness and education around adrenal insufficiency and crisis for patients, families and medical providers. The goal is for clinicians taking care of people living with Duchenne adopt these strategies and put them into clinical practice.

To explain why adrenal insufficiency happens, it is important to explain what the body’s hypothalamic-pituitary-adrenal (HPA) axis does.

The HPA axis normally responds to physical “stressors” and stimulates cortisol to be secreted by the adrenal glands. Cortisol is the body’s “stress” hormone, that helps the body to fight during times of trauma, surgery, infection or illness.

When a person is taking long-term steroids, these replace natural cortisol in the body, and the HPA axis is suppressed causing the adrenal glands become atrophied (smaller and less active) over time. If a person on steroids misses doses of their prescribed steroids, stops them taking them abruptly, or encounters significant physical stressors, they are at risk for an adrenal crisis, which is a potentially life-threatening emergency.

When a person with Duchenne is at risk for adrenal insufficiency and/or crisis, stress dosing is indicated. A “stress dose” of hydrocortisone can be given intramuscularly (via shot) or intravenously (though an IV). This may be followed by IV therapy over the next 24 hours with a plan to taper off, or bridge back to regular steroid therapy dosing. PPMD lead the development of the “PJ Nicholoff Steroid Protcol” which outlines indications for stress dosing and a protocol for tapering off steroids. A plan and prescription for emergency stress dosing of steroids should be discussed with your neuromuscular specialist.

It is important for clinicians to monitor their patients on steroids closely and educate both patients and caregivers for the signs and symptoms of adrenal insufficiency. These include fatigue (extreme tiredness), nausea, vomiting, dizziness, light-headedness, and may be confused with symptoms of an illness. Children and adults on steroid therapy should carry a PPMD Emergency Card, download the PPMD app, or have our emergency webpage available to show clinicians during times of trauma, surgery, infection, or illness. It is also recommended people on steroid therapy wear medical alert bracelets that include medications, more specifically “daily corticosteroids.”

Download PJ’s Protocol

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