Best Doctors 2011: Dr. Amir Hamrahian

A case I'll never forget: Finding the correct diagnosis and cure for a determined patient

The e-mail said it all.

One year earlier, the slim 30-year-old had started gaining weight, mostly around her midsection. Because she had been going through a divorce and had a 5-year-old son, most friends and co-workers told her not to worry, that it was just stress.

But she had acne and increasingly shorter menstrual cycles that eventually stopped altogether. Hair had spouted on her upper lip. Her ankles and feet began to swell.

She had high blood pressure — 160/90 — and heart palpitations. Bruises dotted her legs, there were stretch marks on her stomach, and she couldn't sleep.

Four months of doctors' visits and tests turned up nothing but high blood pressure without a cause. She was told again that stress was the likely culprit.

Then she lost a contact and, upon visiting her optometrist, learned she had ocular hypertension. She told the optometrist her entire story, and he told her to be her own health care advocate. She began researching her symptoms on the Internet, and that is where she came to her self-diagnosis. She thought she might have Cushing's disease, a rare pituitary disorder triggered by prolonged exposure to elevated levels of the hormone cortisol. A test showed her cortisol levels were elevated.

The e-mail was written urgently, and I could tell she was at the end of her rope. She wanted her life back.

She brought pictures of her former self to her appointment with me in March 2008. When I looked at those photos, it was as if she was showing me pictures of a complete stranger. This was not the woman standing in front of me.

Changes in her skin — acne, stretch marks, a round moon face and redness — told me her self-diagnosis was most likely correct. Further blood tests confirmed that her cortisol levels were off the chart, which for me, when combined with her body's changes, confirmed Cushing's.

I could see the hope light up in her eyes. She finally had an answer. Now it was time to treat this problem.

Cushing's can be caused by small tumors on the pituitary gland, which is at the base of the brain. The tumors are often so small they can go undetected on an MRI. So she underwent a procedure called inferior petrosal sinus sampling, a common procedure used to diagnose Cushing's that involves drawing blood from the sinuses, which drain the pituitary.

We compare the levels of a hormone in that blood with blood drawn from another part of the body. Elevated levels of the hormone indicate a tumor in the pituitary gland.

This is exactly what we found in this patient. Surgery to remove the tumor is the most widely used treatment for Cushing's disease, so I called Dr. Robert Weil.

In May, just two months after the patient first came into my office, Weil removed a 3-millimeter tumor from the pituitary gland.

Almost immediately, the patient's physical changes began reversing themselves because of her decreased cortisol levels.

Two weeks after the surgery, she had already started losing weight, and her skin was improving. One year later, I didn't even recognize her. She is a happy, healthy young woman again.

You always want happy endings as a physician. Treating Cushing's successfully, for me, offers perhaps the most happy endings. These patients are at a loss and convinced they will never return to normal. And when you give someone normal back, it is very satisfying.

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