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A Rare Find

Mysterious bone pain leads doctors to unexpected diagnosis

Finally on the road to recovery, Sheri Wolfe is finding solid ground again in her garden as well as in her life.

Even as a child, Sheri Wolfe knew something wasn't right with her body. At age 10, she wrapped bandages around her knees because they hurt so much. Over the years, the pain persisted. Her bones and muscles ached constantly, and she was often fatigued. About 13 years ago, Wolfe was diagnosed with fibromyalgia, but her problems continued to worsen.

In December 2005, she was so weak she couldn't stand. Then she started coughing. Hard. In early February, a violent coughing fit fractured three ribs and sent her to a hospital near her home in Orlando. She was treated for pneumonia, but follow-up tests indicated lung abnormalities and bone lesions hinting at advanced (or spreading) cancer. But no one could confirm a diagnosis.

Frustrated by the uncertainty, Wolfe, 42, came to Mayo Clinic in April. After a thorough evaluation, Mayo doctors found that Wolfe had sarcoidosis, an inflammatory disease that typically starts in the lungs but can affect almost any organ in the body.

In her case, the disease was also attacking her bones, a rare occurrence.

"Bone involvement in sarcoidosis is seen in about 5 percent of patients, typically involving the hands and fingers. In this instance, the disease had spread to areas not usually associated with the disease," says Mayo Clinic surgeon Dr. Mary O'Connor, who has seen only a handful of cases since arriving at the clinic in 1991.

Sarcoidosis is a unique, systemic disease whose cause is unknown. It is often challenging to diagnose because it shows up differently in every patient, explains Dr. Jorge Pascual, a pulmonologist at Mayo Clinic. About 90 percent of patients have some involvement of the lungs, Pascual says.

Sometimes sarcoidosis develops gradually, producing signs and symptoms on and off for years. Other times, it appears suddenly only to disappear. But the hallmark of the disease is the presence of small clusters of inflamed tissue called noncaseating grandulomas. These tiny cells, though smaller than a grain of sand, can "multiply, conglomerate and cause damage," says Pascual.

Many people are unaware they have sarcoidosis.

"Sarcoidosis is a disease that can cause no symptoms and doesn't require treatment," says Pascual, who sees roughly 20 cases a year. "But once diagnosed, it needs to be monitored because extensive tissue inflammation can cause scaring."

Sarcoidosis patients typically have some sort of cough, shortness of breath or enlarged lymph nodes in the chest. Because these can be symptoms of other disorders, Pascual says initial diagnosis can be challenging, which explains why Wolfe probably had received so many conflicting opinions. Her case also was unusual in that she had bone pain and lesions. A full body X-ray revealed masses on her ribs, sternum and left and right hip bones.

To confirm a diagnosis, O'Connor performed an open bone biopsy, "an uncomfortable procedure," she says, which was compounded by uncertainty.

"In Sheri's particular case, we suspected sarcoidosis but needed a tissue sample from one of the bone lesions to confirm it," says O'Connor. "There was a higher level of stress for her and me. Are we going to get the tissue that will get the answers? Thankfully, we did."

Wolfe is glad to finally know what ails her.

"To have so many doctors at other places tell you it's something else, and then to finally get the diagnosis — it's wonderful," she says.

Wolfe is now being treated with an oral steroid to reduce the inflammation in her body. Pascual says that over time he hopes the lesions will dissipate, her lungs will be spared much scarring and her bones will begin to regenerate. So far, she's tolerating the treatment well, despite an array of side effects.

"I'm still coughing, but not as badly as in the past," she says. "I keep telling myself that treatment will not last forever. I'm very hopeful."

She's looking forward to the day when she can once again enjoy the active lifestyle she had given up.

"I think of everything I want to do — travel, garden, take hikes," Wolfe says. "Hiking was a huge thing for me. I loved to hike, but I had such a hard time walking. I can see that now in the future."

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