And It's About Time There Was Some Support For Cushing's!
http://www.nhregister.com/site/news.cfm?newsid=13665025&BRD=1281&PAG=461&dept_id=517515&rfi=6
Abram Katz, Register Science Editor
01/02/2005
Karen Kinne is two different people: "before" and "after."
Just like the retouched models in questionable diet ads, only painfully real.
From adolescence to adulthood she was oddly obese, a glutton in her own eyes with no self-control.
But the problem wasn’t diet or overeating.
Kinne grew bigger and bigger as an undiagnosed and rare hormonal disorder was dragging her toward an early death.
She was weak and sleeping 20 hours a day when physicians figured out that she had Cushing's syndrome and a Yale surgeon intervened.
Now Kinne, 32, is a new person.
"I’m starting a new life. I feel like I’ve lost so many years to the disease. For more than half of my life I’ve had this disease," she said. "It robbed me of happiness." After a long and complex convalescence, she’s a normal weight and shape with normal blood pressure, normal skin and normal metabolism.
"I’ve been through four wardrobes since surgery: size 22-24, then size 18, size 12, then size 10-12 and now size 8," she said.
When now normal Kinne went back to work in March she was a stranger.
"People I’d worked with for 4½ years didn’t recognize me. They walked right by me in the hall," she said.
About 10 in 1 million develop Cushing's syndrome, a devastating condition that many doctors fail to diagnose.
The disorder mimics an array of diseases because the very machinery that maintains all of the body’s work seizes and shuts down.
Specifically, a pathologically large amount of an essential hormone overwhelms the glands that normally regulate it.
It began when a small tumor formed for no known reason on Kinne’s left adrenal gland during her teens.
The adrenal gland sits atop the kidney.
The core of the gland produces adrenaline, which prepares the body to fight or flee.
The outer cortex makes cortisol at the request of the pituitary gland, which hangs from the underside of the brain.
Cortisol is a vital glucocorticoid hormone. Cortisol and other glucocorticoids affect every organ system and cell in the body, except for red blood cells.
Without it, you’re dead.
But too much throws the body’s organs wildly out of balance.
The adrenal tumor flooded Kinne’s 5-foot-3-inch body with enough cortisol for six people.
Left untreated, most people with Cushing's syndrome die prematurely. But before they succumb, they become obese. Weak and depressed. Easily bruised.
Blood pressure soars, insulin stops working and the immune system goes flat.
Surgeons at Yale excised the tumor in May and repaired Kinne’s sagging exterior.
But it has taken months for her hypothalamus, pituitary gland, adrenal cortex and the rest of her endocrine system to return to normal.
The array began to malfunction dramatically in her senior year of high school, in 1989.
Kinne gradually started to gain weight, mostly around her abdomen.
"I tried to hide it. I wore longer shirts," she said.
A slim 97 pounds became 150 pounds.
Her blood pressure rose.
"I had a big appetite and was always trying to diet. I felt like I was eating too much," she said.
By 2001, her weight had increased to 175 pounds. Instead of swelling into an exaggerated pear shape, the pounds kept collecting on her belly.
"I was very large. People, strangers, started to ask me, ‘When is the baby due.’"
The question was mortifying.
"From then on, I didn’t go out except to go to work," Kinne said.
Acne erupted on her normally clear skin.
Even prescription drugs had no effect.
She was now shopping for plus-size clothes.
Kinne’s hellish metamorphosis accelerated. Her face filled out and became round.
She developed a pad of fat (doctors call it a "buffalo hump") on her back at the base of her neck.
Kinne was thinking about killing herself.
Finally, her gynecologist, Dr. Vincent Pepe of Cheshire, asked Kinne what she was eating.
"He said the food didn’t account for the weight and asked me to take some tests," she said.
Kinne has six times the normal level of cortisol.
Pepe told her that she had Cushing's syndrome and recommended an endocrinologist, Dr. Richard Kayne, also of Cheshire.
Kayne’s office wanted to see her immediately.
"That night, I looked up Cushing's syndrome on the Web. It said there was a tumor on my pituitary or adrenal gland and that it might be cancer. I cried all night," she said.
When she met Kayne her anxiety was obvious.
"He said, ‘I see you’ve been looking up Cushing's syndrome on the Internet,’ " she said.
Kayne referred Kinne to Dr. Robert Udelsman, chief of surgery at Yale-New Haven Hospital and one of a relatively small group of surgeons who treat Cushing's syndrome.
Udelsman’s spacious office has one oil painting: a portrait of Dr. Harvey Cushing, who published a paper in 1912 on a new syndrome he had discovered.
Cushing spent the final years of his career at Yale, after "Cushing's syndrome" had become part of the medical lexicon.
Udelsman said Cushing's syndrome is most commonly caused by doctors prescribing prednisone, hydrocortisone and other steroids for a variety of ailments.
In these cases, the syndrome is mild and transient.
Otherwise, the syndrome can arise from one of four problems in the glucocorticoid system, Udelsman said.
When working normally, the hypothalamus produces corticotropin releasing hormone or CRH. The pituitary responds to CRH by making adrenocorticotropic hormone, or ACTH.
When ACTH reaches the adrenal glands, they produce cortisol. Cortisol-containing blood circulates back to the hypothalamus and pituitary, which respond by reducing production of CRH and ACTH, Udelsman said.
Cortisol ordinarily peaks at 8 a.m. and 10 p.m.
A tumor on the pituitary can generate too much cortisol. This condition is called Cushing's disease. A tumor near the pituitary can do the same thing.
Or, as in Kinne’s case, a tumor, benign or cancerous, can form in the adrenal glands and pour out huge amounts of cortisol.
The result is obesity of the trunk, protein deprivation, increased fat, loss of menstruation, acne, reduced bone density, diabetes, increased blood pressure, a suppressed immune system, infections and other symptoms.
Untreated, Cushing's syndrome often ends in death.
Treatment for all types of Cushing's syndrome is surgery, Udelsman said.
Until recently, gaining access to the adrenal gland required major surgery, a large incision and a long recovery time.
Udelsman removed Kinne’s tumor laparoscopically, using narrow wandlike instruments inserted into the abdomen through several small incisions.
Kinne’s tumor was not cancerous.
However, continued exposure to cortisol left her pituitary atrophied and unable to make any ACTH.
In other words, she went from making too much cortisol to not being able to make any.
So Kinne had to be given cortisol. The extra weight stayed on for six months and then rapidly disappeared.
Finally, when her endocrine system came back, she had to be weaned off glucocorticoids, which normally induce euphoria.
Dr. Joseph H. Shin, director of plastic, reconstructive and aesthetic surgery at Yale, tightened her abdominal muscles and removed folds of remaining loose skin.
Kinne now weighs about 130 pounds.
"I’m very happy that I lost all that weight and look like a normal person," she said.
"I’m much more sympathetic to obese people. I know how difficult it is, not having control."
She’s working again as a paralegal at Travelers Life & Annuity in Hartford.
An unhappy four-year marriage officially ended at about the same time. The stress of her medical problems was too much for her former husband, she said.
Now she notices men glancing at her.
They pay more attention to the 132-pound "after" Kinne than to the 205-pound "before" version.
"It’s flattering. I’ve always been a flirt," she said.
But she hasn’t forgotten her other self.
"What bothered me the most was the weight gain and being mistaken for being pregnant," the new Karen Kinne said.
