The Rare Disease Report Podcast: Sarcoidosis


Ennis James, MD, discusses the challenges and lingering questions associated with sarcoidosis

Quick Facts about Sarcoidosis

  • Estimated US prevalence is between 150,000 and 200,000 individuals.
  • It affects the lungs in 90% of cases.
  • If left unchecked, fibrosis may occur.
  • There are limited treatment options, and there is currently no cure for it.
  • It is considered chronic if the disease is active for 2-5 years.
  • Roughly 5-10% of patients will have advanced sarcoidosis. Symptoms may include fatigue, pain, cognitive failure, small fiber neuropathy, inability or difficulty in exercising, and other comorbidities.

Quotes of Interest

We don't know what causes it. The theory is that you get exposed to something in the environment that triggers an abnormal response in the immune system.

It's historically been a difficult disease to manage because it can present in so many different ways.

Some patients will get diagnosed as an incidental finding.

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.

Sarcoidosis is often known as 'the great mimicker'.

April is Sarcoidosis Awareness Month, an opportunity to reflect on the challenges and opportunities for optimizing the diagnosis and care of patients with the systemic inflammatory disease.

Patients with sarcoidosis may present with granulomas on various organs of the body, such as the lungs, the heart, or on the skin. While treatment may be necessary in severe or life-threatening cases, most affected indivdiuals may not even have to take medications for it.

In fact, it can be up to the discretion of the clinicians to determine whether treatment is even necessary. Of course, that doesn’t mean it should be wholly neglected. Careful monitoring and management of sarcoidosis is warranted, and clinicians should be aware of the specific organs affected.

In this episode of The Rare Disease Report, pulmonologist Ennis James, MD, professor and Program Director of the Susan Pearlstine Sarcoidosis Center of Excellence at the Medical University of South Carolina, spoke on the particular uncertainties clouding sarcoidosis, namely its origin and cause.

James has largely focused on improving sarcoidosis care through clinical practice and research — thus, he offered to advice to both practitioners and patients on how best to manage the disease and seek support.

He touched on the disease’s history, challenges for sarcoidosis patients, decisions healthcare providers must make, diagnostic and screening practices, as well as directions for future research. 

James is affiliated with the Foundation for Sarcoidosis Research (FSR) as a member of their Scientific Advisory Board. He is also on the steering committee for their Clinical Studies Network.

To listen to more rare disease reports, be sure to subscribe to the Rare Disease Report Podcast on iTunes and Spotify.

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