Survey: Delayed Diagnosis May Lead to Persistent Symptoms in Cushing’s

Diagnosis took over 2 years for half of Cushing's syndrome patients

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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Roughly half of people worldwide with Cushing’s syndrome see their diagnosis delayed by more than two years despite showing symptoms of the disease, according to a new international survey.

Researchers found that this delay perhaps occurs because doctors dismiss some of the hormonal disorder’s initial symptoms — which could lead these symptoms to continue even after therapy starts.

“Delays in diagnosis may contribute to persistent symptoms after treatment,” the scientists wrote.

Symptoms of Cushing’s syndrome typically fall along a broad spectrum and may require the attention of doctors other than an endocrinologist, an expert in hormone disorders.

“Care of patients … could be improved through more frequent multidisciplinary collaboration with healthcare professionals outside of endocrinology,” the researchers wrote.

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The survey results were detailed in a study, “Unmet needs in Cushing’s syndrome: the patients’ perspective,” published in the journal Endocrine Connections.

Cushing’s syndrome, a group of disorders that includes Cushing’s disease, occurs when the body has too much cortisol, a hormone made by the adrenal glands, located atop the kidneys. Cortisol is involved in many functions, from helping the body deal with stress to controlling blood pressure and the amount of sugar in the bloodstream.

Delayed diagnosis common in Cushing’s

Its multiple functions mean that an excess of cortisol can cause a variety of symptoms that sometimes overlap with those of other diseases, making diagnosis difficult. One 2019 study found that Cushing’s syndrome patients, on average, wait nearly three years — 34 months — before receiving a definite diagnosis.

To get an idea of how patients see their journey — from the first symptoms to diagnosis and treatment — a team of researchers sent out questionnaires to people with Cushing’s across the globe. The survey was distributed via several organizations, including the World Association for Pituitary Organizations (WAPO), and local patient associations, from March to May 2019.

The questionnaire asked for basic information, such as age, sex, and country of residence, and then queried the patients about their experiences.

Originally written in English, it was then translated into eight other languages — French, Dutch, Spanish, Chinese, Portuguese, Italian, and German — and sent out again in November 2019. All answers remained anonymous.

Of the 320 patients completing the survey, 283 (88.4%) were women, 36 (11.3%) were men, and one (0.3%) was nonbinary. The participants hailed from 30 different countries, with 87 (27.2%) living in the U.K. and 44 (13.8%) in the U.S. More than half (53.7%) fell in the age range of 35–54 years.

The results showed nearly half of the patients (48.4%) were diagnosed with Cushing’s syndrome within two years from their initial symptoms. However, the other half (48.7%), waited more than two years for a diagnosis. For nearly one-third of patients (30.3%), the diagnostic process stretched on for more than three years.

Despite their delayed diagnosis, patients reported having multiple symptoms from the beginning. The most common sign was obesity or weight gain, which was first noticed by 272 patients (85%) and considered burdensome by 240 (75%).

Other common and burdensome symptoms were feelings of depression or mood changes, muscle weakness, fatigue, acne, excessive hair growth known as hirsutism, sleep issues, memory problems, and loss of concentration.

To find out from doctors which symptoms of Cushing’s syndrome they think are most common, the team prepared a new questionnaire. That survey was answered by 40 clinicians around the world. Most respondents (82.5%) were endocrinologists, and almost all (92.5%) said they had experience caring for patients with Cushing’s syndrome.

The findings showed, however, that “a majority of physicians inadequately estimated (both underestimated and overestimated) the presence of depression, muscle weakness, cognitive impairment, hypertension, bone problems and glucose [blood sugar] intolerance,” as reported by patients, the researchers wrote.

The researchers suggested that doctors and patients may not give the same level of importance to these symptoms.

“These findings do suggest that some symptoms do not receive enough attention, possibly due to insufficient awareness of these symptoms as real clinical problems,” they wrote.

In more than half of reported case — 172 or 53.8% — the doctor who made the diagnosis, or at least ordered the first tests, was an endocrinologist. In another 58 cases (18.1%), the diagnosis or test order was done by a general practitioner.

Some patients (5.6%) said they made a self-diagnosis and convinced their doctor to order the diagnostic workup.

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Most patients showed disease symptoms

In the survey, 130 patients (40.8%)  were in biochemical remission, meaning their levels of cortisol had returned to normal. Some of these patients were not receiving any treatment or were taking hydrocortisone, a man-made version of cortisol. Others had undergone surgery to remove the adrenal glands.

Despite treatment, 283 patients (88.4%) had persisting symptoms. The top bothersome symptoms were fatigue (66.3%), muscle weakness (48.8%), and obesity or weight gain (41.9%).

Seeking to determine whether a delayed diagnosis might contribute to symptoms continuing beyond treatment, the researchers searched for a link between time to diagnosis and persisting symptoms. They found patients who had to wait longer for a diagnosis were more likely to report weight gain and reduced libido after Cushing’s treatment.

Once diagnosed, almost all patients (97.8%) were managed by an endocrinologist; 180 (56.3%) reported that they were seen by a general practitioner or family doctor. Other specialists included psychiatrists or psychologists, physiotherapists, rheumatologists, gynecologists, cardiologists, dermatologists, and dietitians.

However, “the high frequency of persistent symptoms suggests that patients were not followed-up by specific specialists,” the researchers wrote. Indeed, fewer than one-third (up to 29.4%) of persistent symptoms were managed by specialists other than endocrinologists.

These persistent symptoms had a toll on the patients’ quality of life, with 240 (75%) reporting a decrease in work-life quality and up to 209 (65.3%) citing changes to their social, family, and sexual life.

“Multidisciplinary care is recommended” for patients with Cushing’s syndrome, especially those with a delayed diagnosis, the team noted, adding that treatment should focus not only on easing symptoms, but also on improving quality of life.