April is National Sarcoidosis Awareness Month

Sarcoidosis Awareness Month is a time to learn about this rare disease affecting more than 1 million Americans yearly. Sarcoidosis can affect any organ in your body, but it often shows the typical fever-like symptom of heavy cough and shortness of breath.

This observance was initiated to bring awareness to the disease and help people with it find a community of supporters. It also serves as a springboard for educational events that create a better understanding of the impact of sarcoidosis diagnosis.

History

Sarcoidosis first became known when it was described as a condition causing red, raised rashes on the face, arms, and hands by English dermatologist Dr. Jonathan Hutchinson. According to medical researchers, the disease involves abnormal collections of inflammatory cells that form lumps known as granulomata that usually begins in the lungs, skin, or lymph nodes and can affect any body organ. It has no known cure or cause. Also, its symptoms have been reported to vary depending on which body organ is affected.

Due to its rarity — since it only affects about two million people worldwide and less than 250,000 in the U.S., the disease is often misdiagnosed and misunderstood, which is the reason for the initiation of Sarcoidosis Awareness Month. The foundation for Sarcoidosis Research — the leading U.S. nonprofit organization dedicated to finding a cure for the disease and to improving care for sarcoidosis patients established in 2000, initiated the holiday to serve as a way to bring more light to the effect of sarcoidosis diagnosis, bring sarcoidosis patients up to speed with research around the disease and help them find a community of patient who understands what they go through.

One thing to note about sarcoidosis is that it can cause serious health problems even though most cases of sarcoidosis are not severe and do not cause lasting damage to the body. According to medical professionals, the risk of death from sarcoidosis is 1–7%, with the chances of the disease returning in someone who has had it previously being less than 5%.

Key Facts

• Sarcoidosis is an inflammatory disease in which the immune system overreacts, causing clusters of inflamed tissue called "granulomas" to form in different organs of the body.
• Sarcoidosis most commonly affects the lungs and lymph nodes, but it can also affect the eyes, skin, heart and nervous system.
• Sarcoidosis is a rare disease. The Foundation for Sarcoidosis Research estimates that there are fewer than 200,000 cases per year in the United States.
• Lofgren’s syndrome is an acute, milder form of sarcoidosis that usually goes away within six months to two years after diagnosis.
• African-Americans are three times more likely to be diagnosed with sarcoidosis than Caucasians and tend to have more severe disease.

In severe cases, sarcoidosis can be life-threatening if it progresses to heart or severe lung disease.

What is Sarcoidosis?

Sarcoidosis (pronounced SAR-COY-DOE-SIS) is an inflammatory disease characterized by the formation of granulomas—tiny clumps of inflammatory cells—in one or more organs of the body. When the immune system goes into overdrive and too many of these clumps form, they can interfere with an organ’s structure and function. When left unchecked, chronic inflammation can lead to fibrosis, which is the permanent scarring of organ tissue. This disorder affects the lungs in approximately 90% of cases, but it can affect almost any organ in the body. Despite increasing advances in research, sarcoidosis remains difficult to diagnose with limited treatment options and no known cure.

Disease presentation and severity varies widely among patients. In some cases, the disease goes away on its own. In others, the disease may not progress clinically but individuals will still suffer from some symptoms that challenge their quality of life. The rest of patients—up to a third of people diagnosed with the disease—will require long-term treatment. Sarcoidosis is considered chronic in people whose disease remains active for more than 2-5 years; in this population sarcoidosis can be debilitating and life-threatening.

It’s estimated that the prevalence of sarcoidosis in the US ranges between 150,000 and 200,000 (Baughman, RP et al), with an estimated 1.2 million individuals with sarcoidosis worldwide (Denning, DW et al.).

Advanced Sarcoidosis

Patients suffering from advanced sarcoidosis include those with chronic disease (active disease for more than 2-5 years) who:

• Have worsening disease symptoms despite treatment (usually more than 10 mg corticosteroids and other therapeutic options).
• Still required treatment in the past year whether they experienced symptoms or not.
  

Approximately 5-10% of all patients diagnosed will suffer from advanced sarcoidosis. While several treatments have been proposed for these individuals, including recommendations based on the involved organs, the evidence available to guide doctors in their treatment decisions are limited. As a result, physicians try to balance the need for various therapies at varying doses with side effects and danger of disease progression. Beyond symptoms directly related to inflammation, advanced patients also often contend with fatigue, pain, cognitive failure, small fiber neuropathy, exercise limitation, depression and other comorbidities (e.g. diabetes, high blood pressure, etc.) which often result as side effects from current commonly used treatments.

How Sarcoidosis affects your Body

While no one knows what causes sarcoidosis, it is associated with increased immune system activity. This causes clusters of immune cells called granulomas to infiltrate your organs and lymph nodes. Sarcoidosis most commonly affects your lungs, but it can affect any organ in your body. Sarcoidosis affects people differently, depending on which organs are affected by the disease as well as its severity.

The first stage of sarcoidosis is inflammation. The increased inflammation in your body may cause flu-like symptoms such as night sweats, joint pain and fatigue. The second stage of the disease occurs when granulomas, or masses of inflamed tissue, form in the body. These masses are your body’s attempt to isolate foreign particles that the immune system is having trouble fighting. These granulomas can lead to the third stage of pulmonary sarcoidosis, when scar tissue develops in your lungs, making it hard to breathe. Many people with sarcoidosis also have skin and eye damage. Occasionally those with severe sarcoidosis develop granulomas and inflammation in their hearts, which can trigger abnormal heart rhythms and heart failure.

What are the signs and symptoms?

Signs and symptoms of sarcoidosis vary widely depending on the organs affected. While many people who have sarcoidosis have very few or no signs of the disease, others suffer debilitating effects that can interfere with daily life. It is important to discuss all symptoms with your physician so they can arrive at the correct diagnosis and develop the best treatment plan for your unique case. When patients are first diagnosed, they often present with a classic set of signs described as Lofgren’s Syndrome:

• Fever
• Enlarged lymph nodes
• Swollen and painful joints, arthritis
• Erythema nodosum, raised, red, and tender bumps to form on the skin, usually on the front of the legs. Nearby joints are often swollen and painful.

Often, the presence of erythema nodosum is a good sign, indicating the type of sarcoidosis that also goes away on its own after a few months or years, often without treatment. Because sarcoidosis so often affects the lungs, other common symptoms of sarcoidosis include shortness of breath, wheezing, and chronic cough. Some patients will also experience chest pain and others will have no signs at all, even when inflammation is present.

Who are at risk?

The cause of sarcoidosis is unknown, but it seems to have both a genetic and an environmental component. When someone whose genes make them more prone to developing sarcoidosis is exposed to a trigger such as an infection or environmental contaminant, their immune system can overreact and start the development of the disease. If you work in dusty or moldy environments, you may be at a higher risk of developing sarcoidosis.

Although anyone can develop sarcoidosis, people of African and Scandinavian descent are more at risk. Both men and women can be diagnosed with sarcoidosis, but it is more common in women. People between 20 to 40 years of age are more likely to develop sarcoidosis than others.

Observing National Sarcoidosis Awareness Month

Getting tested for sarcoidosis is arguably the best way to join this observance. For most of the known cases of Sarcoidosis, the disease was discovered due to an examination done for an entirely different illness. Getting explicitly tested for the disease makes certain its existence doesn't come as a shock and that we can keep track of treatment progress and find a community of supporters soon.

Talking with and learning from others who have had similar experiences can help patients deal with sarcoidosis. This support group from the Foundation for Sarcoidosis Research (FSR) is peer-led, meaning that it is facilitated by two people living with sarcoidosis.

To raise awareness and unite the community during April’s Sarcoidosis Awareness Month, FSR will be hosting a month-long virtual awareness and fundraising challenge. The Foundation has also put together a robust array of educational, wellness, and social engagement programs this month.

Sources:

https://www.atsjournals.org/doi/pdf/10.1513/AnnalsATS.201511-760OC

https://www.lung.org/lung-health-diseases/lung-disease-lookup/sarcoidosis/learn-about-sarcoidosis

https://www.stopsarcoidosis.org/fsr-sarcoidosis-support-group/

https://www.stopsarcoidosis.org/what-is-sarcoidosis/symptoms/