Cushing's: A master of disguise

Like many celebrities, comedian and actress Amy Schumer fields a fair number of scathing remarks when photos of her are published online. But when people started commenting about the 43-year-old's "moon face" in 2024, the Internet trolls inadvertently proved valuable, leading to her diagnosis of Cushing's syndrome.

A swollen face, along with excess belly weight and fatigue, is a hallmark of the condition, which affects women up to five times as often as men. But Cushing's usually shows up in ways that don't immediately tip people off that it's the culprit. And not many people are aware of Cushing's or its symptoms, a Harvard expert says.

Cushing's is marked by elevated blood levels of cortisol, an essential hormone produced by the adrenal glands. Cases fall into two categories: Cushing's disease is caused by a tumor on the pituitary gland in the brain that puts the body's production of cortisol into overdrive. Cushing's syndrome serves as an umbrella term for Cushing's disease and all the other reasons people can have too much cortisol circulating. These can include using corticosteroids (like Schumer) or having a tumor elsewhere in the body. The syndrome is the most common form, accounting for the vast majority of cases of Cushing's.

"It's a rare condition, so even among physicians there can be some confusion about it," says Dr. Nicholas Tritos, a neuroendocrinologist at Harvard-affiliated Massachusetts General Hospital and an international expert on Cushing's syndrome.

Dangerous downstream effects

Cushing's occurs in people of all ages. Scientists don't yet know why far more women are affected, though they believe the higher incidence is linked to estrogen.

Additional symptoms can include rapid weight gain, especially in the trunk; a fatty hump between the shoulders; purplish "stretch marks" on the hips, belly, thighs, and breasts; easy bruising; slow wound healing; and acne. Women can also face additional problems, including the growth of thick, dark hair on the face and body, and irregular or ab-sent periods, which can hamper fertility.

"Although weight gain is the most obvious thing, it's only the tip of the iceberg," Dr. Tritos says. "People also find their stamina is lower and they can't exercise as much. Even their mental acuity is impaired, and they say they aren't as sharp as they used to be."

While symptoms can be disruptive, they can also be dangerous. Cushing's can lead to high blood pressure, bone loss, muscle weakness, and diabetes. Down the road, if it's not treated, patients face far higher risks of cardiovascular problems.

"In the short term, people appropriately worry about their weight and their mental acuity, but in the long term, just as important — or even more so — is their risk of heart attack and stroke," he says. "For all these reasons, it's important to detect and treat it."

Tricky diagnosis

Since Cushing's symptoms are common to many other conditions, it's important to speak up if you notice any — especially if you regularly use any corticosteroid medication like prednisone or dexamethasone. If steroids are to blame, your doctor would gradually taper the dose to allow your body to adjust and produce a healthy amount of cortisol.

Beyond that, diagnosing Cushing's often involves an array of tests to measure cortisol levels, typically in blood, urine, and saliva. But this is trickier than it sounds. That's because our cortisol levels naturally fluctuate significantly over a 24-hour period. "That makes Cushing's harder to pin down sometimes," Dr. Tritos says.

If you're indeed producing too much cortisol, the next step is determining why. You may require additional, more specialized tests or imaging scans to illuminate whether a tumor on the pituitary gland or elsewhere is leading to the overproduction.

Treatments all aim to lower the body's cortisol levels. Pituitary and other tumors are removed surgically, but they can grow back. Patients may also need medication, radiation, or additional surgery. But Cushing's can't be left un-treated, since it can prove fatal. And doctors often have to tweak treatments to ensure, paradoxically, that enough cortisol is still circulating in the body. While Cushing's is potentially curable, its effects can linger for many years.

"This isn't an easy condition to live with, but we've come a long way," Dr. Tritos says. "The outlook is much better than it was when it was first described over 100 years ago."

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