An estimated 80% of men and boys with adrenoleukodystrophy (ALD) develop adrenal insufficiency — when the body does not produce enough of the steroid hormone cortisol. By comparison, only around 1% of girls and women who carry the disease experience this condition.
Under stressful circumstances, this lack of cortisol in people with ALD can lead to a life-threatening condition called acute adrenal insufficiency. This also is known as an adrenal crisis, or an Addisonian crisis.
The following can help you learn how you can prevent acute adrenal insufficiency if you have ALD. It also may help you, if you are a caregiver, to know what to do if your child or a patient with ALD develops this acute condition and requires emergency management.
What is adrenal insufficiency?
In adrenal insufficiency, the body does not produce sufficient amounts of cortisol from the adrenal glands.
When patients with adrenal insufficiency encounter stressful situations — for example, fevers from infections, stomach issues, severe psychological stress, or injuries like broken bones — the levels of cortisol available will not be able to meet the body’s needs.
The usual symptoms of a crisis include lack of eating, nausea, vomiting, stomach pain, fatigue, weakness, back pain, confusion, and altered consciousness. A sudden loss of consciousness also can occur.
How does ALD lead to acute adrenal insufficiency?
The exact mechanism by which insufficient levels of cortisol cause an adrenal crisis is not clear.
However, researchers think that the buildup of very-long-chain fatty acids (VLCFAs) in the adrenal glands causes the death of cells there. These cells are responsible for producing certain hormones, including cortisol.
VLCFAs also may reduce cortisol production by interacting with and reducing the number of cholesterol molecules. The body uses cholesterol to make cortisol.
Finally, VLCFAs may become part of the adrenal cell membranes, which are the outer covering of these cells. This might prevent the cells from being able to receive signals to increase the levels of cortisol.
All of these factors may contribute to acute adrenal insufficiency in ALD patients, scientists say.
What to do in an emergency?
When patients experience an adrenal crisis, it is vital that they quickly receive an injection of the steroid hydrocortisone to try and raise the levels of cortisol in the body.
The dose will depend on the age of the patient. Children ages 3 or younger should receive 25 mg, while those between ages 3 and 12 should receive 50mg. Adults and children ages 12 and over should receive 100 mg.
Such injections should be given to the patients as soon as possible, and preferably should be administered by a caregiver or emergency staff.
Following the initial treatment, patients should then be taken to the hospital, as quickly as is possible. There, they will continue to receive more hydrocortisone, either in six-hour increments, once every 24 hours, or as a continuous infusion.
Many patients experiencing adrenal crisis also might have low blood volume or low blood sugar. Those with low blood volume will need saline infusions, while patients with low blood sugar will require infusions of dextrose (sugar) solution.
Typically patients are treated in a hospital’s critical care area and will stay there, with their vital signs being monitored, until their condition stabilizes.
How to prevent an adrenal crisis in the future
In order to prevent emergencies in the future, patients with adrenal insufficiency should receive daily doses of hydrocortisone. The corticosteroids is usually given as an oral medication to help people with ALD maintain adequate cortisol levels in their bodies.
In the case of physical stress, such as an illness, or psychological stress, patients may need an increase in their dose of hydrocortisone, clinicians note.
Patients and their caregivers should work with their doctors to come up with an adrenal insufficiency action plan. This plan should lay out the best routine for hydrocortisone administration, with specifics on how the doses — daily, increased, and even emergency — should be handled in the future.
Last updated: Feb. 10, 2021
***
Adrenoleukodystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
