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Vital Signs: Attacked from Within

A woman battles a disease so diverse that it eludes diagnosis.

By Robert A Norman
May 21, 2007 5:00 AMNov 12, 2019 4:39 AM


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A 28-year-old woman sat on the examining table pointing at patches on the sides of her face and scalp where it looked as if miniature grenades had exploded, leaving crevices.

“Can you get rid of them?” she asked.

“How long have these been there?”

“A couple of years. But now they’re getting worse.”

In addition to the lesions, I noticed a red, raised rash that spread across her cheeks, over the bridge of her nose, and around her eyes. I looked over her chart for medications and allergies. None were listed.

“So you don’t take any prescription or other medications?”

“Nope. I just take a whole bunch of aspirin, or whatever I can afford, because my bones ache.”

“Are you stiff when you first get up in the morning? Do your joints swell? How long does it last?”

These questions would narrow the diagnostic possibilities, but a skin biopsy and blood tests would also be essential.

“I’m going to need to take a small piece of skin to help make a diagnosis and get you better. I’ll numb it up first,” I said.

After removing a bit of tissue about the size of a pencil eraser from one of the lesions, I ordered a full blood count. I also ordered tests of kidney function, blood clotting, and liver function, along with an ESR (erythrocyte sedimentation rate—a marker of nonspecific inflammation), a CRP (C-reactive protein—another inflammation marker), and an ANA (antinuclear antibody) test. I suspected the patient was suffering from systemic lupus erythematosus, a widespread attack by her immune system on her own body. Experience told me that her symptoms would most likely add up to lupus, but I deeply hoped I was wrong.

“I’m going to give you a cream to put on your face to help clear it up and a pill you can take to cut down on your pain,” I said.

As the test results rolled in over the next two weeks, the diagnostic picture became clearer. Although the result for C-reactive protein was normal, the ANA result came back positive. These antinuclear antibodies can turn up in patients on some prescription drugs, but when the result shows up in people not taking any of those drugs, it can be a sign of the immunologic problems of lupus. Still, I needed other results to make sure, and the biopsy offered one more clue. White blood cells along the junction of the dermis and the skin’s more superficial layer, called the epidermis, are another sign of immune activation.

When viruses or bacteria attack the body, immune cells known as B cells normally respond by producing antibodies that bind to the invaders and mark them for destruction. In patients with lupus, the ability to distinguish one’s own molecules from foreign molecules is disrupted, and the B cells produce antibodies that attack healthy cells and vital organs, especially the brain and the kidneys. Other immune cells, called T lymphocytes and macrophages, can also join the misguided attack on the self.

The symptoms of lupus are so varied that the disease can often go undetected for years. Common signs are arthritis, facial rash, and hair loss. Other manifestations include kidney damage, lung inflammation, and paralysis. Because lupus can disturb so many body processes, it often mimics diseases like scleroderma, multiple sclerosis, and rheumatoid arthritis.

Before a case can be classified as lupus, the American College of Rheumatology requires that the patient show at least 4 of 11 symptoms since the onset of the disease. My patient met that standard. She’d had the “butterfly” mark on her face, eroded red patches of skin in other areas, pain in the joints, and a positive ANA test. Like about 90 percent of all lupus patients, she was female and had developed the disease during her childbearing years.

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