Coping with Connective Tissue Diseases (CTDs)

by Food and Drug Administration (FDA)

"I woke up one morning and noticed that my hands and feet were swollen. I said to myself, 'what is this?' " says Carol Grogul, a 29-year-old administrative assistant in a New York City investment company.

She went to work and didn't think much more about it. But over the course of the next few weeks, Grogul began to experience severe pain in her knees and hips.

"One minute I was fine, the next minute the pain was so bad I couldn't move," she recalls.

When her fingers started curling into a claw shape, she became frightened. After seeking help from several doctors to no avail, Grogul was referred to a rheumatologist. The diagnosis: scleroderma (thickening of the skin), also called systemic sclerosis, which is one of a family of disorders known collectively as connective tissue diseases (CTDs). Within a matter of weeks, she was to feel the full brunt of scleroderma's distressing symptoms.

"Now the skin on my face is so tight I can hardly open my mouth. I have no muscle energy at all. I walk with a cane, like an old woman, and I'm losing my hair," she says.

These severe symptoms followed a bout with kidney failure, also the result of scleroderma. "This disease may not kill you, but you will suffer," she says. "I never have a day when I feel really good, but I just have to keep going."

Seven years ago, when Tina Kline of Clyde, N.C., was pregnant with her second child, she noticed rashes on her knuckles, nose, eyes, and chest — and assumed she was experiencing a reaction to picking strawberries. She also felt completely exhausted, which she attributed to her pregnancy.

"A few days later, my arms would not go over my head. I couldn't get dressed or undressed. My legs were so weak, I had to crawl up the stairs," she recalls.

Tests taken in the emergency department of her local hospital were inconclusive, so Kline was referred to various specialists for additional tests. Ultimately, a rheumatologist made the diagnosis: polymyositis/dermatomyositis (PM/DM) — another CTD with potentially devastating consequences.

Today, at age 36, Kline, who founded a PM/DM support group, is in remission from the disease. But she suffers from bone deterioration, a side effect of the prednisone (a corticosteroid medication) prescribed to lessen her symptoms.

After six weeks, during which she took 60 milligrams of oral prednisone daily, the joints in her legs began to deteriorate. She was hospitalized and given 150 milligrams daily of the immunosuppressive drug azathioprine (Imuran) to combat the deterioration. However, she continued taking prednisone to treat PM/DM. The disease had also caused her lungs to become infected.

Over the next few years, in a rare instance of widespread joint deterioration, Kline said that her hip and shoulder joints "collapsed," even though prednisone was tapered to lower levels. She has since had her hips and shoulders surgically replaced, and "my knees are next," she says. "There are days when I feel angry and frustrated, sick of having to deal with the disease nonstop, day in and day out," Kline admits. "But I've learned to be grateful for what I can do, for whatever physical independence I have."

Immune System at Fault

In scleroderma, PM/DM, and systemic lupus erythematosus (SLE), the immune system goes awry.

"The body ceases to recognize 'self as self,' and mounts an attack against itself," explains Joseph Markenson, M.D., associate professor of clinical medicine at Cornell University Medical College in New York City. In such an "autoimmune reaction" the body produces antibodies — substances normally secreted by certain white blood cells to combat disease-causing viruses, bacteria, and other microorganisms — against its own cells and tissues. This triggers an array of symptoms, from joint pain to rashes to internal organ damage.

These CTDs have been in the news lately because of claims by some women and physicians that silicone leakage from breast implants and collagen injected into the skin to reduce acne scars and wrinkling cause CTDs. Although scientific evidence linking these products with CTDs is not conclusive, the media attention has sparked much curiosity about these disorders.

The fact is, the vast majority of the millions of Americans who suffer from a CTD — many of whom are women in their 20s, 30s and 40s — have no clue why the disease has struck them. This includes an estimated 2 million Americans with rheumatoid arthritis (see "Arthritis: Modern Treatment for that Old Pain in the Joints" in the July-August 1991 FDA Consumer), a CTD that thus far has not been associated with silicone implants or collagen injections. It also includes an estimated 500,000 Americans with SLE or another variant of lupus; 300,000 with scleroderma; and an unknown number who suffer from PM/DM. Many people who have a CTD develop "overlap" syndromes, which means they have symptoms of more than one CTD simultaneously.

CTDs are potentially life-threatening, and even mild cases can significantly impair quality of life. Disabling symptoms interfere with the ability to work or take care of a family. There is also an emotional toll when other people's unfounded fears lead them to treat a person with a CTD as an outcast.

"I know a woman with lupus who lost her job; people in her office wouldn't go near her or let her sit on their chairs," says Ronni Shulman, a 38-year-old public relations consultant from Westchester, N.Y., who has had scleroderma for 10 years. "I've noticed women hold on to their children when I walk by." Yet these disorders aren't contagious or infectious. No one can "catch" them from someone else.

About the Author

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