When a 36-year-old physician developed a cough so severe she cracked a rib, she knew something wasn't right. But her illness was a mystery—until her doctor asked two bizarre questions that revealed a rare, mysterious disease, Lisa Sanders writes for the New York Times Magazine.

Expedite patient diagnosis

It all started with a cough

Soon after the birth of her daughter, the patient developed a cough that initially presented only during exercise. After a few months, however, the patient's cough became excruciating, she experienced violent paroxysms that caused her ribs to ache, it hurt to pick up her child, and it even hurt to breathe.

When the symptoms didn't subside, the patient decided to visit her doctor. An X-ray showed what looked like pneumonia in the patient's lungs, but the doctor determined her cough had lasted too long to be pneumonia, so he ordered a CT scan—and discovered a cracked rib.

As a result, the patient was prescribed prednisone and antibiotics, a regimen that cleared her lungs but did not treat her cough. She was then diagnosed with asthma and given inhalers and a high dose of prednisone. Surprisingly, the patient felt relief immediately—but not because of the inhalers. After she discovered that prednisone effectively treated her symptoms—including her severe joint pains and body stiffness—the patient continued to take a very high dose.

However, as a physician, she realized that if she continued to regularly take high doses of prednisone, she risked getting glaucoma, diabetes, osteoporosis, and high blood pressure. Faced with a choice between the dangerous side effects of prednisone and the painful symptoms of her mystery illness, the patient finally decided to see James Katz, a senior research physician at the National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health.

'Do you ever have pain in your ears when you wear a hat?'

In his examination of the patient, Katz quickly ruled out two potential conditions: rheumatoid arthritis (RA) and a rare disease of the blood vessels called eosinophilic granulomatosis with polyangiitis (EGPA). RA was discounted because, unlike the patient, RA patients generally do not need very high doses of prednisone to manage their symptoms. EGPA was similarly rejected because the patient did not have high levels of eosinophils, the white cells that drive the disease—and she also was experiencing joint pain rather than muscle pain.

After he found inflammation in the patient's knee, Katz set out to determine the source of the inflammation—and he suspected an unlikely source: cartilage. Sure enough, when the doctor pressed on the patient's chest where cartilage connects the ribs to the breastbone, the patient jumped back in pain. "I didn't even know it hurt there," she said.

Then, Katz asked two strange questions, "Do you ever have pain in your ears when you wear a hat, or when you sleep on your side?" And, Sanders writes,"[Does your] nose ever get sore or red when [you wear] sunglasses?" Startled by the specificity of the questions, the patient responded yes.

Based on the patient's symptoms, Katz was fairly confident the patient had a rare autoimmune disease called relapsing polychondritis (RP), a condition that was making the patient's white blood cells attack parts of her own body—specifically, her cartilage.

Since there is not a single blood test used to confirm an RP diagnosis, and the disease is difficult to detect with imaging until it is in an advanced stage, most patients are diagnosed based on symptoms and their doctor's examination, Sanders writes. In fact, the patient had learned about the disease herself in medical school, but she had been taught to look out only for two telltale symptoms—a red, swollen ear with a normal-looking ear lobe, or a deformity in which the bridge of the nose dips down as a result of cartilage destruction—symptoms that, according to Sanders, present in only about half of RP patients.

For his part, Katz diagnosed the patient based on cartilage inflammation in her ears, nose, chest, and knee. After her diagnosis, the patient was prescribed an immune-suppressing drug regimen she maintains to this day.

Helping other patients with the disease

After she received her diagnosis and fought for months to get control of the disease, the patient decided to help care for others who had also received a RP diagnosis. In hindsight, the patient realized she was in denial for a long time—but she now helps other patients cope with "this poorly understood, often devastating disease," Sanders writes, in the hopes that others will "no longer suffer for years thinking it must all just be in their heads." (Sanders, New York Times Magazine, 11/10)