Sarcoidosis: Causes, Symptoms & Treatment of a Rare Disease

Photo Credit: Rare Disease Portrait Gallery by Daniel Soñé Photography, flickr.com

Even though last month is National Sarcoidosis Awareness Month, there’s still a pretty good chance you’ve never heard of it. That’s because sarcoidosis is a rare inflammatory disease that affects fewer than 200,000 people per year in the United States. While most cases aren’t dangerous or life threatening, certain types can be.

Often, sarcoidosis is a long-term (and even life-long) chronic illness that causes inflammation and scarring to body tissue due to formation of granulomas (inflammatory tissue). One of the issues with sarcoidosis is the fact that it can affect people differently, depending on which organ(s) is affected—and it can plague just about every single one. However, most frequently, sarcoidosis starts in the lungs, causing weight loss, fatigue, and nausea.

For those diagnosed with this rare disease, it may be difficult to learn there is no known cause or cure. While there is a genetic component (some people are genetically predisposed), the exact cause or trigger is hard to distinguish. For some it could be triggered by bacteria, dust, chemicals, or even an allergic reaction. We do know that it affects women more frequently than men. However, if you have a family history of sarcoidosis, it may increase your likelihood of acquiring the disease under the right circumstances.

Symptoms of Sarcoidosis

The symptoms of sarcoidosis can mimic those of many other chronic inflammatory diseases. Typically, it starts with fatigue, swollen lymph nodes, and weight loss. However, there are also organ/type specific symptoms to be aware of. In order to explore those, let’s also take a look at the various types of sarcoidosis.

1. Pulmonary Sarcoidosis

This is the most common form of sarcoidosis, if such a thing exists. Sarcoidosis is characterized by the development of granulomas that build up in the lungs and other organs. This means the disease manifests in the lungs, causing a persistent dry cough, shortness of breath, wheezing, and even chest pain. Sometimes it can also impact the sinuses, causing nasal stiffness. Those patients with pulmonary sarcoidosis need to be more cautious around viruses and colds; this includes taking precautions to avoid viruses such as COVID-19 (also known as coronavirus). Over time, the granulomas cause scarring in the lungs and restrict the ability of the lungs to expand and retract properly.

2. Cardiac Sarcoidosis

When sarcoidosis affects the heart, the subsequent scarring can cause the heart to pump weaker than it should. This typically causes shortness of breath, swelling in the legs, coughing, and wheezing. However, it can also trigger pacing problems as well. If this happens, you’ll see symptoms like heartbeats that are too fast or too slow, skipped heartbeats, palpitations, buildup of fluid in the lungs, and even sudden loss of consciousness. This version is the second leading cause of death from sarcoidosis. However, when found and treated early, long-term prognosis improves dramatically.

3. Neurosarcoidosis

The nervous system can be affected by sarcoidosis, but only 5-15% of patients develop it. Unfortunately, for those who do, it can be quite debilitating. It can affect the hypothalamus and pituitary gland, which in turn, disrupts many systems from menstrual cycles to growth. It can also lead to muscle weakness or numbness, as well as vision issues if it impacts the ocular nerve.

4. Multiorgan Sarcoidosis

This type of sarcoidosis can impact the body across multiple organs all at the same time. While the number of organs, and which ones, can be different from person to person, getting a handle on them is the key to improving the quality and length of life.

5. Ocular Sarcoidosis

One-third of sarcoidosis patients will have their eyes affected by this disease. Symptoms include sensitivity to light, dry eye, blurred vision, red eye, burning or itching in the eye, eye pain, or black eye “floaters.” In very rare instances, it can lead to permanent eye damage and blindness. For some reason, this type of sarcoidosis is found to affect Japanese people more than any other.

6. Musculoskeletal Sarcoidosis

If your muscles, bones, or joints are affected by this disease, you likely have musculoskeletal sarcoidosis. Because it can cause inflammation of the bones, in very rare instances, it can lead to osteoporosis and arthritic symptoms. Most commonly, this will be found in the feet, ankles, and knees. Sarcoidosis in the muscles is pretty rare (less than 1% of cases have been found with this), but some symptoms might include chronic muscle weakness and painful lumps in the muscles.

7. Cutaneous Sarcoidosis

When sarcoidosis affects the skin, it’s called cutaneous sarcoidosis. Symptoms from this type are found in the form of skin rashes and lesions. Approximately 10-35% of people with the disease have this form of the disease.

8. Renal Sarcoidosis

Because sarcoidosis can cause changes in the way the body metabolizes calcium, it can cause kidney stones, kidney damage, and even kidney failure. Granulomas in the kidneys cause inflammation and can lead to scarring or permanent kidney damage.

9. Hepatic Sarcoidosis

If sarcoidosis affects the liver, it rarely impairs its function. However, in very rare cases, it can cause liver disease and high blood pressure in the liver.

10. Lymphatic Sarcoidosis

With this form of sarcoidosis, you will likely see an increase in inflammation of the lymphatic system. Typically, this manifests as lymph nodes that are swollen across the body. While some people can have their sarcoidosis manifest only in the lymph nodes, it’s important to note that because the lymphatic system is part of the body’s immune system, it’s possible to see lymphatic swelling with other variations of the disease as well.

Prevention and Treatment

Since there are no known causes for sarcoidosis we can definitively point to, the best way to prevent sarcoidosis is to educate yourself on inflammatory autoimmune disorders such as this one. By steering clear of triggers that might cause inflammation in your body, you help your chances of preventing sarcoidosis from taking hold. Some basic things that can help in this department include:

• Avoid allergens (food, dust, chemicals, fumes, toxins)

• Eat clean

• Drink lots of water

• Wash hands

• Maintain healthy weight

If you do find yourself diagnosed with sarcoidosis, there’s a good chance your doctor will prescribe an anti-inflammatory medications (such as corticosteroids) and/or immunosuppressive agents. Which one works best for you might differ from someone else who has the disease, so talk to your doctor about the options.

While this disease may be rare, by opening the dialogue about it and telling our stories, we can create more awareness about sarcoidosis, it’s symptoms, diagnosis, and treatments. If you are new to the world of sarcoidosis, there is a wealth of information and insights you can acquire by checking it out on Twitter or visiting the hashtags #WhatMakesMeRare #YouAreNotAlone. You can also head over to Quora to see what others are talking about.

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