The Daily Checkup: Sarcoidosis poses threat of disability and death, and its origin remains uncertain

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The specialist:

As the director of the sarcoidosis clinic at Mount Sinai, Dr. Adam Morgenthau is a pulmonologist who sees about 100 patients with sarcoidosis a month. April is National Sarcoidosis Month.

Who’s at risk:

Sarcoidosis isn’t a word you hear bandied around on the subway, but it affects as many as a million people around the world — including boldface names like Evander Holyfield, Karen Duffy and Bill Russell. Bernie Mac lived with sarcoidosis for 25 years and set up a foundation to improve patient care and find a cure.

“Sarcoidosis is a systemic inflammatory disease that can affect any organ in the body, most commonly the lungs,” says Morgenthau. “Although the exact cause of sarcoidosis remains unknown, many experts believe that a foreign substance or substances get inhaled into the lungs, triggering an immune response.”

While many cases of sarcoidosis are mild or asymptomatic, severe cases can cause disability and death.

The characteristic feature of sarcoidosis is the formation of granulomas, tiny clusters of immune cells that deposit in various organs and cause inflammation.

“Genetic factors dictate whether these granulomas produce inflammation in certain organs,” says Morgenthau. “About 70% of patients are asymptomatic, but about 30% have chronic disease that requires monitoring and treatment.”

Although anyone can develop sarcoidosis, some groups are at higher risk than others. “Sarcoidosis primarily affects people of child-bearing age. Seventy percent of patients are diagnosed between age 20 and 40,” says Morgenthau. “In the U.S., sarcoidosis is much more common in African-Americans than whites. The lifetime risk of developing sarcoidosis is 2.4% in the black community and 0.85% in the white community.”

Signs and symptoms:

The majority of sarcoidosis patients have a good prognosis and many have no symptoms whatsoever. “About one-third of patients have a chronic course of sarcoidosis that requires treatment, and about half of that group do not respond to conventional therapy,” says Morgenthau.

“The symptoms depend on the organ system involved. For instance, in the lungs, sarcoidosis causes coughing — especially a persistent dry cough, shortness of breath, and wheeze,” he says.

Other symptoms include swollen lymph nodes, skin lesions or rashes, eye inflammation, metabolic disturbances and high calcium content in the blood or urine.

Another trait of sarcoidosis is that it can go through periods of activity and inactivity. “The evolution of sarcoidosis is unpredictable, and typically involves alternating periods of activity and inactivity,” says Morgenthau. “Because the symptoms may be nonexistent or nonspecific, sarcoidosis is often undiagnosed or even misdiagnosed.”

Some patients are only diagnosed when they get into a car accident and get a chest X-ray that shows swollen lymph nodes. “Diagnosis can be challenging because it relies on fitting together multiple pieces of information, including symptoms, chest imaging and other testing,” says Morgenthau.

“The key to diagnosis is having a tissue biopsy.” Tissue is usually obtained by a biopsy of the lung, but Mount Sinai uses a noninvasive skin test.

Traditional treatment:

The treatments available today focus on managing symptoms. “Since the cause of sarcoidosis is unknown, there is no cure,” says Morgenthau. “Current therapies suppress the inflammation caused by granulomas, because it is the inflammation that causes symptoms.” Prednisone, a potent anti-inflammatory, is the standard of care for sarcoidosis, but it may cause severe side effects, especially when taken in high doses over long periods of time.

Different organs can also respond differently to the same treatment.

“When steroids can’t be used, there are other anti-inflammatories, and even an anti-malarial medication that can be beneficial,” says Morgenthau. “There are also experimental drugs being tested in clinical trials.”

Doctors can’t always predict whether sarcoidosis will go away on its own or will remain a chronic complaint. “There are no blood tests that allow us to determine the severity of the disease,” says Morgenthau. “But there are some clinical cues. For instance, patients with skin disease, spleen or bone involvement all tend to have the disease for a longer time.”

Most people who remit do so within two years of diagnosis. “So if you’ve had sarcoidosis for three years or longer, it’s unlikely to go away, though it won’t necessarily be a severe course,” says Morgenthau.

Research breakthroughs:

Doctors have made great strides toward understanding sarcoidosis at the genetic level. “Many of these genes control the immune system’s response, which influences the individual patient’s risk of developing sarcoidosis and which organs are affected,” says Morgenthau.

“But still, the million-dollar question is: What causes the disease? I strongly believe that we won’t be able to cure sarcoidosis until we know what causes the condition.”

Questions for your doctor:

If you’re diagnosed with sarcoidosis, it’s a good time to be blunt and ask, “Is the diagnosis correct?” “Sarcoidosis mimics so many other conditions,” says Morgenthau.

Once the diagnosis is certain, the next questions are, “Which of my organs are involved?” and “What’s my prognosis?”

“Most of the time sarcoidosis is a very treatable disease,” says Morgenthau. “If it doesn’t remit on its own, we are usually able to prevent it from getting worse, so that patients return to living their normal lives.”

What you can do.

Get informed.

Two reliable online sources are the Foundation for Sarcoidosis Research (stopsarcoidosis.org) and Mount Sinai (mountsinai.org/patient-care/service-areas/lung-diseases-and-surgery/areas-of-care/sarcoidosis-program).

See a specialist.

There are only a handful of Sarcoidosis Centers for Excellence in the U.S., and Mount Sinai is the only one in the metropolitan area.

Stick to your checkups.

Sarcoidosis requires relatively frequent monitoring, depending on the severity of disease and amount of time from diagnosis.

Get your eyes checked.

Sarcoidosis can affect and damage the eyes, so all patients should have an annual eye exam.

Get support.

Support groups are extremely effective at both providing support and giving patients and caregivers access to a wealth of information.

By the numbers:

Sarcoidosis affects as many as 1 million people around the world.

70% of sarcoidosis patients are 20-40 years old.

The lifetime risk of developing sarcoidosis is 2.4% for African-Americans and 0.85% for whites.

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