Many Symptoms of Lupus Can Keep Doctors Guessing

The diagnosis was made just eight years ago, but looking back, 34-year-old Annemarie Casey can remember a variety of symptoms that appeared while she was still in high school and college.

She had a recurrent rash on her face, for instance. But her mother had rashes, so she was not concerned.

Her joints ached. But her grandmother had rheumatoid arthritis, and she figured she was just following in the family footsteps.

She had chronic coldness in her hands and feet from constriction of blood vessels--a condition known as Raynaud’s phenomenon.

She had kidney infections, also recurrent, and high fevers.

“But each time I just bounced right back,” she says now.

After a miscarriage when she was in her mid-20s, however, Casey did not bounce back. She felt constantly ill. She lost weight and developed ulcers on her hands and feet. Blood tests showed altered liver function. She was told she might have cancer.

But then her internist called in a rheumatologist, who added up all the symptoms and ran some more lab tests.

The determination that she had lupus came as something of a relief.

“I was so happy,” she said. “I didn’t have liver cancer. I wasn’t going to die.”

On the other hand, she wasn’t going to have an easy time of it. Chronic and incurable, systemic lupus erythematosus is an auto-immune disease, meaning it occurs when the immune system goes haywire and makes antibodies against certain components of all the cells in a person’s body.

The main targets are women in the childbearing years, and experts believe hormonal balance is somehow involved. Just how and why are not yet known. Of the estimated 500,000 Americans who have lupus, 90% of them are women.

“The pattern of the disease is exacerbation and then relative or complete remission,” says Dr. Barry Handwerger of the University of Maryland Medical System.

In some people, sunlight causes a flare-up of disease. Others get sicker after periods of stress, or after viral illnesses. Lupus sometimes becomes apparent for the first time during pregnancy, or a quiet case will flare at that time. Other times, the disease will go into remission then, and rebound after delivery.

“The obstetricians are often the first to recognize it,” said Dr. Michelle Petri, co-director of the lupus pregnancy center at Johns Hopkins.

Because it can cause inflammation in the joints, lupus is considered similar to arthritis. And, according to Petri, pregnancy in lupus patients is considered high risk.

Two forms of lupus are known. In “discoid lupus,” antibodies against the skin cause lesions, mainly on the face and other areas exposed to the sun. Other organ systems are not involved.

“Systemic lupus” is more dangerous. A rampage of antibodies can damage blood vessels and blood components, skin and joints, internal organs, the central nervous system. Brain and kidneys are especially vulnerable.

In the past, when diagnosis lagged far behind damage and medicines were more limited, patients died of infections, strokes, organ failure. “Now,” Handwerger said, “we have survival rates approaching normal.”

Annemarie Casey, of Columbia, Md., had a successful pregnancy two years after her diagnosis. Gale Mangini, who lives on Maryland’s Eastern Shore, was diagnosed after her first pregnancy; she subsequently has had a second child.

But the disease has taken its toll.

“I was a secretary,” Mangini says. “Now I can’t work because of (arthritis in) my fingers. My son is in the second grade and can help take care of himself, but my 2 1/2-year-old is a problem. I have to struggle to keep up with her.”

“Lupus,” from the Latin for “wolf,” was named because of the butterfly-shaped rash that appears on the face. According to one story, the pattern resembles the markings on the face of the wolf.