NY Times article

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Cases

When the Disease Eludes a Diagnosis

By BARRON H. LERNER, M.D.

Published: March 25, 2008

Lucy, one of my longtime patients, has a neurological ailment she believes I

have been unable to adequately diagnose.

Although I hope to make further progress on her case, I have also told her that

there may never be a definitive answer. Not surprisingly, she is feeling pretty

frustrated with me.

Why do doctors and patients often approach the diagnosis of disease so

differently?

Part of the answer lies in the concept of triage - the notion, originated in

wartime, of caring for the sickest and most salvageable patients first. Once

they were saved, attention could be turned to less drastic cases.

A similar strategy has evolved in emergency rooms, where physicians are trained

to " rule in " or " rule out " severe conditions. Thus, doctors immediately consider

heart attacks or pulmonary embolisms for patients with chest pain, and

intestinal rupture for those with abdominal pain.

But what happens when these conditions are ruled out? In such cases, doctors

proceed to search for less dire (and, it must be said, more mundane) diagnoses.

The trouble is that at this stage, some physicians, busy with other patients and

duties, lose interest.

For example, many patients with chest pain carry a diagnosis of costochondritis

(inflammation of the chest wall bones) or gastroesophageal reflux (regurgitation

of stomach acid into the esophagus).

These are real conditions. But they tend to generate little interest from many

physicians, who may refer to them as " wastebasket diagnoses, " offered when

nothing more serious has turned up.

The frustration of patients who believe that the medical profession takes these

types of ailments too lightly has led groups of them to form alliances to

publicize their illnesses. Foremost among them are fibromyalgia, a syndrome

involving muscular and other pains, and chronic fatigue syndrome, which has

recently been given increased credibility by the Centers for Disease Control and

Prevention.

Part of the problem with these conditions is that existing treatments are not

nearly as effective as those for, say, heart attacks and pneumonia. As a result,

doctors may grow irritated when patients continually complain of symptoms that

cannot be " cured. "

Patients' frustration may rise even more when their conditions are especially

obscure. I once had a patient who complained of persistent drenching sweats that

forced her to change her bedclothes several times a night.

Upon learning of this problem, I first went into triage mode, ruling out

possible dangerous causes, including tuberculosis, a thyroid abnormality and

rare tumors that release hormones. I referred her to a gynecologist on the

chance that she was getting hot flashes decades after her menopause.

When all the tests were negative, my patient was understandably upset, even

angry. " No doctor that I have spoken to has been able to tell me what it is, "

she said, as I remember. She even called a doctor on a local radio show for his

opinion.

I recalled this story when I learned recently that my longtime patient Lucy's

new neurologist was questioning whether she had multiple sclerosis, a diagnosis

she has carried for more than 25 years. Since I have known her, Lucy has had

painful and weak legs that necessitate a walker.

Rather than simply corroborating her existing diagnosis, this doctor had thought

outside the box, noting that Lucy's relatively stable condition - and her lack

of brain lesions on an M.R.I., a test not available at the time of her initial

diagnosis - warranted a new perspective.

At first, Lucy was excited too. After all, being told you may not have a serious

disease like multiple sclerosis is surely good news.

But while the neurologist had correctly questioned the diagnosis, she had a

harder time finding a new one. Lucy became discouraged. " I want to know, " she

told me. " I point-blank asked the neurologist, 'What is it?' And the only answer

she can give me is: 'I don't know. I'm not sure.' "

Eventually, the neurology team decided that Lucy had an atypical form of

multiple sclerosis, one that caused unusual neurological symptoms and was

present in the spinal cord but not the brain. Yet the doctors admitted that this

diagnosis generated more questions than answers about Lucy's prognosis and her

future treatment.

While trying to be as sympathetic as possible, I find myself reminding Lucy of

the limits of certainty in medicine. Despite enormous advances in technology,

some diagnoses may remain elusive. I also told her that it was highly unlikely

her doctors missed diagnosing a disease that could have been successfully

treated. But she remains convinced that she deserves to know exactly what she

has.

So we will continue to search.

Barron H. Lerner teaches medicine and public health at the Columbia University

Medical Center.

Engel

" Eternal vigilance is the price of liberty "

-Ida B. Wells in her autobiography Crusade for Justice