What is Cushing's disease? Experts warn of 'rare but serious' condition

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Imagine the heart-pounding rush of adrenaline you’d get while bungee jumping or zip lining — that’s what Angela Yawn felt all the time before receiving her diagnosis.

In a span of six years, the 49-year-old gained 52 kg (115 lbs) and suffered from joint swelling, headaches, skin redness and a racing heart.

“I would put my hand on my chest because it made me feel like that’s what I needed to do to hold my heart in,” Yawn, who lives in Griffin, U.S., told Today. “I noticed it during the day, but at night when I was trying to lie down and sleep, it was worse because I could do nothing but hear it beat, feel it thump.”

Yawn recalled being the most frustrated with the weight gain, as she’d put on 1 kg (2 lbs) a day while only eating 600 calories. “I was going crazy,” she said.

After dozens of doctors couldn’t piece together her seemingly unrelated symptoms, Yawn sought out the help of an endocrinologist in February 2021.

Blood tests and an MRI confirmed that Yawn had a tumour in her pituitary gland — a small, pea-sized organ at the base of the brain — that caused the gland to release excess adrenocorticotropic hormones. As a result, she became inundated with cortisol, a steroid the body releases in response to danger or stress. This combination of factors led to her diagnosis — Cushing’s disease.

Read on to learn more about Cushing’s disease, signs and symptoms as well as how it can be prevented.

What is Cushing’s disease?

“Cushing’s disease is a rare but serious condition that is caused by a pituitary tumour," a specialist from the University of California, Los Angeles (UCLA) pituitary team tells Yahoo Canada. "The gland releases excessive adrenocorticotropic hormones and cortisol into the blood over a long period of time. It’s a hormonal disorder that is sometimes called hypercortisolism, and you will need to see an endocrinologist or someone who specializes in hormonal-related diseases to confirm your diagnosis and to help you receive proper care.”

Cushing’s disease is not the same as Cushing’s syndrome, which refers to elevated levels of cortisol in the blood and is much more common than Cushing’s disease. Unlike the disease, Cushing’s syndrome can be caused by taking medications that have cortisol such as prednisone, asthma inhalers and joint steroid injections.

Who is at risk for Cushing’s disease?

Cushing’s disease is incredibly rare, resulting in only 10 to 15 new cases per million people in the United States each year, according to UCLA Health.

“It’s most commonly found in people between the ages of 20 and 50, and affects about three times more women than men,” the UCLA source, who asked not to be named, says. “However, you might be more at risk if you have high blood pressure, if you’re overweight or if you have type 2 diabetes.”

What are the signs and symptoms of Cushing’s disease?

Although each person may have a unique combination of symptoms, patients typically experience changes to their physical appearance, according to Mayo Clinic.

“It’s very common to see rapid weight gain, red cheeks and bruising of the skin,” the UCLA source says. “I’ve also seen patients with generalized fatigue, depression, high blood pressure, a rapid heartbeat and loss of vision.”

“The symptoms can seem random or unrelated, which is why it can be so hard to diagnose,” they add.

To establish if you have the disease, your doctor will conduct a physical exam and ask you about your symptoms and medical history. Generally, the first step in diagnosing Cushing's disease is determining the state of excess cortisol in the blood. Afterwards, an MRI will determine if a pituitary tumour is visible.

If you have symptoms of Cushing’s disease, you should make an appointment to see a doctor or endocrinologist.

How is Cushing’s disease treated?

In the last decade, treatment options have changed thanks to several breakthroughs in pituitary science.

“Surgery to remove the tumour is normally the first treatment option. It’s minimally invasive, has a fairly high success rate and it’s the only long-term cure for Cushing’s disease at the moment,” explains the UCLA source.

If surgery isn’t an option or doesn’t solve the problem, medication and radiation therapy are other ways to treat the disease.

“No matter the stage of the disease at the time of diagnosis, treating it requires an experienced specialist or team of doctors familiar with pituitary tumours,” the UCLA source adds.

How can I prevent Cushing’s disease?

“There’s no tried and true method of preventing the condition,” the source explains. “But if you’re at risk or if you think you have the disease, I always recommend having a doctor monitor your cortisol levels on a regular basis.”

The UCLA source also recommends implementing healthy lifestyle changes that can help prevent high blood pressure. Examples include reducing stress, getting adequate sleep, exercising regularly and eating a healthy diet that's rich in fruits, vegetables and whole grains.

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