Sarcoidosis

ITS victims are usually young and full of vigor. Their cases run the gamut from mildly irritating to life-threatening. The inflammatory disease is sarcoidosis, a systemic condition that can affect every organ in the body, although it most often begins in the lungs.

African-Americans, along with Swedes and Danes, have the highest rates of sarcoidosis in the world, according to the American Lung Association. Black women are victimized twice as often as Black men, and Blacks are also more likely to have more severe, chronic symptoms than Whites. And although deaths from the disease are rare, the mortality rate among Blacks is more than 16 times that of Whites.

In December 2004 sarcoidosis sufferer and NFL great Reggie White died at age 43. Medical experts believe sarcoidosis contributed to his death. Earlier this year comedian and actor Bernie Mac revealed that he's had the disease since 1983, and basketball legend Bill Russell and his daughter Karen Russell are both battling the mysterious disease.

Sarcoidosis (pronounced SARKOI-DOE-SIS) can appear in almost any organ in the body, although the inflammation of the body's tissues can begin in any organ and usually affects more than one organ.

The disease, which most commonly strikes young adults between the ages of 20 and 40, is a puzzling one, with no known cause and no cure.

"Most of the patients are young and this works to their disadvantage," says Dr. Talmadge E. King Jr., chief of medical services at San Francisco General Hospital and a fellow of the American College of Chest Physicians. "Patients often develop intense fatigue, and because they are so young, doctors tend not to believe them."

In fact, many patients complain that the disease is often routinely misdiagnosed. "The disease is often diagnosed serendipitously," Dr. King adds, "through a chest x-ray or routine physical exam."

For instance, it took more than a year to properly diagnose Dr. Marsha Thornhill's sarcoidosis--and she is a physician. A former marathon runner, she says she knew about fatigue--both from finishing a long race and from staying up all night as a resident on-call. "This kind of fatigue [associated with sarcoidosis] is indescribable and immobilizing," she says. "It's like trying to come up out of quicksand. You never feel refreshed, even after rest."

And because she was in such good physical shape, her physicians initially attributed her fatigue to a stressful workload. Although she was diagnosed in 2001 with multisystem sarcoidosis manifesting in very severe symptoms, her physicians now believe she may have had the disease anywhere from a year to 16 years prior to the 2001 diagnosis.

The 43-year-old New Jersey anesthesiologist says the frustration associated with getting a proper diagnosis motivated her to become more involved with helping sarcoidosis patients. "If this could happen to a physician in a major metropolitan area where we have access to the best care, [it could happen anywhere]," she says. She credits thoracic expert Dr. King with saving her life. "If it wasn't for him, I wouldn't be here right now," she says.

Open and honest communication between doctor and patient is a vital key to managing this disease, patients say. Andrea Wilson, founder of the Foundation for Sarcoidosis Research (FSR) in Chicago, has a virulent and potentially life-threatening form of the disease. She was first diagnosed in 1994, after eight years of battling perplexing symptoms. "They said I had multiple sclerosis, a brain tumor, inner-ear issues--just about everything under the sun," she says. "Finally I was lucky enough to get a doctor who was savvy enough to go the extra mile and order a chest x-ray that showed dramatic inflammation in both lungs."

After a brief respite from the disease, during pregnancy with her now 10-year-old daughter, "all hell broke loose" as the disease returned with a vengeance, and she was told bluntly by one physician to "go home and get your affairs in order." At that time she had a 2-month-old daughter at home, and she says she literally got up and walked out of his office. "I was mad as hell," she says now. Frustrated with the lack of knowledge about the disease, both in the medical and patient communities, she and her investment banker husband, Reading Wilson--who took a year's leave of absence from his job--formed the FSR in 2000. Their mission is twofold--to find the causes of and the cure for sarcoidosis, and to take care of the patients.

"Unfortunately, we get too many memorials--Reggie White and sportscaster Darrian Chapman, here in Chicago, died of sarcoidosis." FSR, she says, is the only privately funded organization funding groundbreaking research in sarcoidosis. To date, the organization has raised almost $1 million and funded six research projects, while partnering with the American Thoracic Society.

Wilson says former Boston Celtics star and Hall of Famer Bill Russell and his daughter have filmed a series of public service announcements for the group. Russell, who has sarcoidosis in his lungs, is championing this cause and working to raise awareness of the devastating disease.

Another advocate, Paula Yette Polite of Memphis, Tenn., says things have improved since her initial diagnosis in 1981 when she was in her early 20s. "It was five years from my diagnosis before I met anyone who had this disease," she says. "There were no patient organizations at that time." Polite has no internal organ involvement; her problems are limited mostly to her skin and joints. However, she says the numbing fatigue and side effects from prednisone, a corticosteroid drug treatment generally used to treat sarcoidosis, have dramatically affected her quality of life. Once active and outgoing, the divorcee now she has to conserve her strength, working part-time to care for her 9-year-old daughter Adira. In 1991, she formed a patient education association to focus on "patient education and public awareness."

Some signs and symptoms of sarcoidosis include fever, fatigue, weight loss, night sweats, small red bumps on the face, arms or buttocks (more common in Blacks than in Whites), red, watery eyes, arthritis in ankles, elbows, wrists and hands.

Physicians say the lungs are affected in more than 90 percent of sarcoidosis patients. A persistent cough and shortness of breath, particularly with exertion and chest pain, are prominent symptoms.

With this disease, Dr. King says, fatigue and chest pain are additional common symptoms that first send patients to a physician. Because these symptoms can mimic other diseases, doctors often use blood tests, chest x-rays, breathing tests and biopsy to diagnosis sarcoidosis.

Self-care is important when battling a chronic disease. Physicians and patients offer the following recommendations to facilitate living with sarcoidosis: Find a doctor you can communicate with. Polite and others recommend one central doctor--usually an internist--to coordinate the many specialists involved in sarcoidosis treatment; have your eyes examined every year, Dr. King says, because severe visual impairment or blindness can be side effects of the disease; keep a journal to record treatments, medications and how your body responds to the disease; exercise and therapeutic massage have been helpful to some patients; developing and/or maintaining a strong spiritual relationship helps buoy patients to fight the disease, experts say; maintain a strong support system. Along with family, friends and loved ones, a number of organizations and support groups exist to help people cope with sarcoidosis.

Despite the mysteries surrounding sarcoidosis, researchers are making significant progress in finding a cure, experts say. Wilson says her scientific advisory board is currently reviewing the results of some "very exciting and groundbreaking" research that will be revealed later this year. "We do have a way to go," she says, "however, it's a very exciting time."

COPYRIGHT 2005 Johnson Publishing Co.
COPYRIGHT 2005 Gale Group