No cure, but a good treatment

In November, a few weeks after her ear, nose and throat appointment in Washington, Elizabeth Starrels traveled to Philadelphia to see an oral medicine specialist at the University of Pennsylvania. A week earlier, to her dismay, a spray of fluid-filled blisters had erupted on her chest.

The doctor peered into her mouth and told Starrels he didn't think she had lichen planus, the diagnosis she got from her Washington ENT. He suspected her problem was pemphigus vulgaris, a rare autoimmune disease, and urged her to see a dermatologist immediately to undergo a biopsy of the blisters, which could help confirm or refute the diagnosis.

Pemphigus vulgaris (and a related disorder called pemphigoid) is a serious and incurable disease that is usually caused by an overreaction of the immune system, which mistakenly attacks healthy skin cells, especially the mucous membranes.

It is not contagious, and is most common in middle age and beyond.

Starrels was able to undergo a biopsy the day after her appointment at Penn. The procedure was performed by a dermatopathologist - a doctor trained in both dermatology and pathology - who is a partner of Starrels' dermatologist. The biopsy yielded preliminary confirmation of pemphigus vulgaris, which was confirmed by pathologists at Johns Hopkins.

A few weeks later, at the recommendation of her dermatologist, Starrels saw Grant J. Anhalt, a professor of dermatology at Johns Hopkins who specializes in treating blistering skin diseases.

"He basically said, 'There's no cure for this disease, but I have a very good treatment,' " Starrels remembers him telling her, to her great relief.

Starrels' case is typical, Anhalt said. It takes patients an average of six months to a year to receive a diagnosis, largely because the telltale symptom - mouth sores - has numerous causes and because pemphigus is rare. The frequent nosebleeds she had experienced, but hadn't thought much of, were a harbinger of the disorder.

Anhalt has increasingly relied on periodic infusions of rituximab, a drug approved to treat rheumatoid arthritis and certain cancers. Earlier this year, the Food and Drug Administration granted the drug, which is in a Phase III clinical trial, breakthrough therapy status, a designation that could speed its approval for pemphigus and facilitate insurance coverage.

Other drugs, including prednisone and CellCept, an immunosuppressant drug often used to prevent organ rejection, are also prescribed, sometimes in combination.

Starrels began taking prednisone and CellCept and then underwent the first of three rituximab infusions. Her insurance covered the first round, at $20,000, without difficulty. Coverage of the last round was initially denied, but it was covered after Starrels appealed.

Over a period of months, her sores and blisters cleared up and her pain vanished. Her first remission lasted 18 months. The average remission lasts 1.5 to 2.5 years, Anhalt said, but he knows of one patient whose remission has exceeded a decade. - Sandra G. Boodman