Understanding sarcoidosis: A multi-system inflammatory disease
In 2015, Eugenia Colon’s story was featured in a New York Times series on the dangers of working in nail salons. A former salon owner, Colon spent years inhaling chemicals and powders while ignoring a persistent cough that grew progressively worse.
Chest scans showed abnormal nodules on Colon’s lungs as well as scar tissue, which led to a diagnosis of sarcoidosis. The little-known disease is relatively rare, with about 200,000 current cases in the U.S.
Sarcoidosis is a multi-system inflammatory disease that affects one or more organs, most commonly the lungs and lymph nodes. As a result of the inflammation, abnormal nodules called granulomas form in the affected organs.
“About 90 percent of patients have it in the lungs,” says Dr. Daniel Culver, DO, director of the Interstitial Lung Disease Program at the Cleveland Clinic. “The symptoms, which can include coughing, wheezing and chest discomfort, are often misdiagnosed as asthma.”
Who is at risk?
While the exact cause of sarcoidosis is unknown, race, gender and genetics play important roles. And, as in the case of Colon, environment influences those factors.
“There’s likely a genetic component to sarcoidosis,” says Dr. Culver, “but you also have to have susceptibility and an environmental trigger — the thing that actually starts the fire.”
Dr. Culver explains that the risk of sarcoidosis is analagous to a field (which he likens to genetics). Susceptibility is increased by what you do to that field (have you fertilized it, repeatedly added chemicals to it over the years) and, finally, a seed (or environmental trigger) needs to fall on that field to activate the disease.
“There’s likely a genetic component to sarcoidosis, but you also have to have susceptibility and an environmental trigger — the thing that actually starts the fire.” — Dr. Daniel Culver, DO, Cleveland Clinic
In the U.S., African Americans develop sarcoidosis at a higher rate than other races and about 2.5 times more often than Caucasians, says Dr. Culver. Women also have a higher risk than men and tend to develop it later in life than men. African-American women have a nearly 3 percent lifetime risk for developing sarcoidosis.
“African Americans also have more granulomas, so their disease tends to be more severe,” adds Dr. Culver.
Worldwide, northern Europeans have a higher risk of developing sarcoidosis, including Scandinavians, Irish and Germans.
New research into sarcoidosis shows two big misconceptions, according to Dr. Culver. The first is the average age of onset. Previously thought to affect those between 20 and 40 years old, the average age of diagnosis in the U.S. is actually more than 55 years old. Also, though African Americans have a higher risk of developing the disease, there are still more Caucasian patients because there are more Caucasians living in the U.S.
Diagnosis and treatment
Sarcoidosis symptoms can be vague and overlap with other illnesses, which can hinder diagnosis. No single test exists to identify the disease; however, an X-ray or biopsy will often reveal the disease and its location. In many cases, the patient will have granulomas in more than one organ, requiring treatment from various specialists.
In the U.S., about half of those newly diagnosed will have only one organ affected in the beginning, says Dr. Culver, with 2.5 organs per patient eventually affected on average.
“Treatment is necessary,” says Dr. Culver, “because an important organ is under attack and its function can be hampered or permanently damaged.”
While prednisone, a potent anti-inflammatory steroid, is the standard treatment for sarcoidosis, Dr. Culver urges caution.
“The disease usually runs its course over years, so most patients need to be treated for a long period of time,” he says. “This means a regimen needs to be determined with the long-term in mind.”
He advises patients to advocate for themselves and talk to their doctors about alternatives to steroids, or steroid-sparing regimens.
“You have to individualize treatment,” says Dr. Culver. “If they have a flare-up once or twice a year, then steroids might work. But that’s atypical.”
Doctors of Osteopathic Medicine, or DOs, look beyond your symptoms to consider how environmental and lifestyle factors impact your health. They are trained to listen and partner with you to help you not only get healthy, but stay well.