What to Know About Sarcoidosis Disease

Sarcoidosis is a systemic inflammatory disease affecting roughly 150,000-200,000 individuals in the United States. The condition is marked by its variability in presentations, potentially affecting organs like the lungs, the skin, the heart, and the brain. And while many patients may not require treatment, work in this domain to uncover its cause and cure continues through clinical research.

In this month’s episode of The Rare Disease Report podcast, pulmonologist Ennis James, MD, professor and Program Director of the Susan Pearlstine Sarcoidosis Center of Excellence at the Medical University of South Carolina, discussed the current state of care and treatment for this disease. Below is the full episode, including key quotes from James.

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Tell me how and why you got into this clinical domain?

“As a pulmonary fellow, I would see a lot of sarcoidosis patients in clinic. And as a trainee, I would go to my attendings who are supposed to be all-knowing and would be able to tell me what to do—but, when it came to sarcoid patients, oftentimes the answer was, ‘well, we don’t really know the right thing to do.’ It seemed like an area where a lot of improvements could be made, and there was a lot to learn.”

What is Sarcoidosis? What are its clinical presentations?

“I tell patients it’s a systemic inflammatory disease. We don’t know what causes it. The theory is that you get exposed to something in the environment that triggers an abnormal response from the immune system. The end result is that the immune system is kind of in overdrive—and as a result of that, you get a lot of granulomatous inflammation throughout the body that can really affect any organ system. Around 90% of patients will have lung involvement. […] We see a lot of patients with skin involvement, eye involvement, heart involvement, brain involvement. It can really do anything.”

What populations does it typically affect?

“It can really affect anybody. Black patients are more likely to get sarcoidosis. Although, if you look at the total number of patients in the United States who have sarcoidosis, just based on our population, there is overall more white patients. But we certainly know that Black American tend to have more severe disease, they’re more likely to be treated and tend to require treatment for a longer period of time.

What is the general quality of life for these patients?

“[Some] patients may never have symptoms. So, it ranges all the way from that to having multiple organ systems involved, potentially causing symptoms such as shortness of breath, pain, fatigue (which is very common). Patients who have heart involvement, for example, can have heart failure as a result. I would say, overall, the quality of life in sarcoid patients depends in part on how their disease is managed.

“One of the tricky parts about sarcoidosis is that while certainly the disease can affect your quality of life, a lot of the medications we use can also affect quality of life as well.”

What do diagnosis and screening look like for sarcoidosis?

“The diagnosis is made when somebody has a compatible clinical presentation. They have symptoms and imaging findings consistent with sarcoidosis. In addition to getting a biopsy and showing the granulomatous inflammation consistent with sarcoid, probably more important is excluding other causes both of their symptoms and of the granulomas on their biopsy. There are a lot of other diseases that can mimic sarcoidosis. Sarcoid is often known as ‘the great mimicker.’”

What does the treatment landscape look like for this disease?

“For most forms of sarcoidosis, prednisone or steroids are first-line treatment. Historically, it’s worked well for the disease, but it’s fraught with side effects. And so, they’re not very good long-term treatment options. If somebody needs to be on treatment for their sarcoidosis for an extended period of time, we often will talk to them about starting second and third-line medications."

And the goal of starting these second and third-line medicines in the vast majority of patients is for those medicines to take over controlling the sarcoidosis and allow us to get them off of prednisone without their symptoms or their sarcoidosis getting worse. […]

The vast majority of people actually may need not any treatment.”

What about ongoing research? What have been the challenges associated with it?

“Historically, sarcoidosis has been a very difficult disease to investigate. Part of that has to do with how variable the clinical presentations can be. That creates difficulty with research studies because when we’re including patients in these studies, we need to be able to define a uniform population within sarcoidosis patients.”

“There are lot of different directions to move in sarcoidosis. […] My personal bias is wanting to improve quality of life overall.”

Do you have any final thoughts you want to offer about Sarcoidosis?

“For physicians and practitioners, [I would say] there are really one 2 things that you can do wrong when managing a sarcoid patient: One is to miss dangerous organ involvement, and one is to treat a patient for no good reason. 

“And so, [what matters is] really taking the time, being confident in diagnosis, being sure you’re not missing other potential diseases that explain symptoms, and then being sure that you have a clear treatment plan, you know exactly why you’ve decided to treat that patient, the patient is on board with it, they understand the rational and how you’re going to follow treatment response, and [knowing] what to do if treatment doesn’t go well.”

Quotations have been edited for clarity.