Less moon face, stretch marks seen in recent Cushing’s patients
Three-decade-analysis finds disease presentation is changing
In recent years, fewer people are presenting with classic features of Cushing’s disease, such as moon face and purple stretch marks, according to a three-decade analysis of disease management.
Patients diagnosed more recently are also older, and they have lower levels of cortisol and smaller pituitary tumors than those who presented more than 12 years ago. However, the rate of remission after the first-line treatment of surgery to remove tumors has not changed over the years.
“We believe that recognizing the gradual fading of classic clinical features will encourage clinicians to lower their threshold for screening, ensuring earlier detection and timely intervention in suspected cases,” researchers wrote.
The study, “Changing face of Cushing’s disease over three decades in pituitary center,” was published in the Journal of Endocrinological Investigation.
Moon face a hallmark feature of Cushing’s disease
In Cushing’s disease, tumors in the brain’s pituitary gland secrete high amounts of adrenocorticotropic hormone (ACTH), which in turn boosts the levels of cortisol in the bloodstream, driving disease symptoms.
Traditionally, Cushing’s disease was suspected when patients presented with its hallmark features — purple stretch marks and moon face, which is characterized by an abnormal buildup of fat in the face.
However, many other features of Cushing’s are nonspecific and similar to those of different conditions. These include obesity, diabetes, higher blood pressure, reproductive problems, and various mental disorders. Such a varied presentation may lead to diagnostic delays, especially in milder cases.
In light of advances in diagnosis and treatment, researchers in Turkey examined the changing presentation and treatment of Cushing’s disease over more than three decades at their Pituitary Center.
“We believe that a deeper understanding of its evolving clinical profile will facilitate more effective screening and diagnosis, ultimately leading to improved patient outcomes,” the researchers wrote.
Diagnosis before typical clinical symptoms appear could become more frequent
The team described the clinical findings of 258 people, primarily women (84.5%), who were diagnosed with Cushing’s disease between 1990 and 2023.
When patients first presented at the clinic, the most common feature was hirsutism, or the excessive growth of body hair, followed by moon face and purple stretch marks. Obesity and high blood pressure were the most common coexisting conditions at presentation.
MRI scans revealed small pituitary tumors in most patients (74.7%). Transsphenoidal adenomectomy, a surgical procedure to remove the disease-causing tumor, was the first-line treatment in most patients (77.5%), two-thirds of whom achieved remission (69%). Cushing’s reoccurred in about one-third (37.3%) of participants.
About one-third of patients (36%) were diagnosed in the most recent decade of the study, between 2013 and 2023, and were significantly older than those diagnosed between 1990 and 2012.
Between 2013 and 2023, significantly fewer patients presented with moon face, purple stretch marks, hirsutism, and menstrual irregularity compared with 1990 to 2012. Patients diagnosed in that 10-year span also had lower initial cortisol and ACTH levels, and a smaller median size of the pituitary tumor. Other physical features and coexisting conditions were similar between the two eras.
The increasing availability of biochemical screening methods might … lead to [Cushing’s disease] being diagnosed more frequently before typical clinical symptoms appear.
Patients diagnosed before 2013 had a significantly longer disease duration, with a median of approximately 7.8 years, compared to 4.3 years for those diagnosed after 2013.
“The increasing availability of biochemical screening methods might … lead to [Cushing’s disease] being diagnosed more frequently before typical clinical symptoms appear,” the team wrote.
Fewer patients diagnosed after 2013 underwent repeated pituitary surgery. They also experienced fewer relapses and had less radiation-based therapy than those in earlier years, suggesting improvements in surgical techniques and effective medical treatments, they noted.
The rate of surgical remission, assessed three months after the procedure, was similar for patients diagnosed before and after 2013.
In a statistical analysis, the year of diagnosis was significant for two symptoms, moon face and hirsutism, suggesting that the likelihood of these clinical features being present at diagnosis has decreased in more recent years, the team said. Other variables, including tumor size and initial cortisol and ACTH, did not show a significant association with these symptoms.
“We observed that patients with Cushing’s disease [are] now presenting with older age, subtler physical features, lower baseline hormone levels, and smaller tumors,” the researchers wrote. “The surgical remission rate following the [surgery] as the first-line treatment has not changed over the years.”
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