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. While the exact cause of the disease is unknown, physicians can help guide their patients toward a quicker diagnosis and treatment.
“It takes about six visits to doctors on average before a diagnosis is made,” says Daniel Culver, DO, director of the Interstitial Lung Disease Program at the Cleveland Clinic. “If you have it on the skin, where you can take a biopsy, it’s obviously easier to diagnose. But about 90% of patients develop it in their lungs.”
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.
“The lung symptoms, which can include coughing, wheezing and chest discomfort, are often misdiagnosed as asthma,” adds Dr. Culver.
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.
Who is at risk?
Race, gender and genetics play important roles in determining who develops sarcoidosis. 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.
Sarcoidosis is relatively rare, with about 200,000 current cases in the U.S., where African-Americans develop it 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% 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.
“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 due to its long-term side effects such as cataracts, bone loss and weakening of the immune system.
“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 suggests that doctors and patients discuss alternatives to steroids, or steroid-sparing regimens, which can include immunosuppressants such as methotrexate.
“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.”