March 18, 2003 Volume 39 Issue 11, The Medical Post

Cushing's disease one of hardest to diagnose

Doctors rarely see condition and end up treating secondary disease instead of cause
By Norman Bauman

NEW YORK – Cushing's disease can be "one of the hardest diagnoses in medicine to make," says Dr. Daniel Kelly, associate professor of neurosurgery at UCLA Medical Centre, who brought one of his patients here to prove it.

"In seven years, I sought help from more than 15 highly recommended physicians, as well as six nutritionists, three psychotherapists, two hypnotherapists, an acupuncturist and an expert in natural medicine," said patient Sharmyn McGraw of Newport Beach, Calif.

She gained 100 lbs in a year, and went from dress size two to size 22.

"My face was round," McGraw said. "My back, face and neck were completely covered with a red rash and my stomach looked as if I was having twins. My hair began to fall out by the handful. I never slept more than two hours in a night."

McGraw and Dr. Kelly spoke at a media briefing here sponsored by the Pituitary Network Association.

Doctors continually blamed McGraw for her "weight problem," and told her to diet and exercise.

She did have a weight problem, but—as Dr. Shereen Ezzat, professor of medicine at the University of Toronto, told the meeting—doctors often treat patients with pituitary disorders for the secondary presentation, like diabetes, hypertension and arthritis, rather than the primary disease, such as Cushing's or acromegaly. "It's important to remember that a hormonal defect may be the underlying cause."

In desperation, McGraw tried to figure out her own medical records, which repeatedly dismissed abnormal cortisol tests. She searched the Internet for "cortisol," and an article on Cushing's syndrome popped up on the screen, with her exact symptoms.

She finally went to UCLA, where Dr. Andre van Herle, professor of medicine in the division of endocrinology, saw her for the first time, shook her hand and said, "So you're here because you have Cushing's?"

UCLA diagnosed a pituitary adenoma which, like one-third of Cushing's cases, was not visible on MRI, said Dr. Kelly.

During surgery, using intraoperative ultrasound, he found and removed a 2 mm by 3 mm shadow. McGraw made a full recovery, emains in remission 30 months later and has become a patient advocate for the condition.

Why did so many doctors miss Cushing's? "They don't see it very often," said Dr. Kelly. The annual incidence is in the thousands.

Testing is complicated. McGraw said that if the lab didn't asterisk a result, doctors ignored it. "At my lab, nine to 60 is the range of a normal adrenocorticotropic hormone (ACTH) level. My ACTH was 58." The normal cortisol range was 25 to 108, and hers was 200, which they explained by obesity.

"Unless you order the appropriate tests at the appropriate time of day, you will often miss it," said Dr. Kelly, "and you often have to repeat the test multiple times during the day."

McGraw said she went to prestigious clinics in Newport Beach, rather than academic medical centres.

She said one clinic wrote a report ruling out Cushing's. Her subsequent doctors accepted it.