Sarcoidosis is a rare disease that can affect any organ in the body. Here are some key ways to recognize and treat this condition.
Manuel Ribeiro, M.D.
Pulmonologist, Cleveland Clinic
Sarcoidosis is a rare inflammatory disease of unknown cause that can affect virtually any organ in the body. The disease starts when different cells from the immune system clump together to form what we call granulomas. Depending on the location and extent of this granulomatous inflammation, patients may develop many different symptoms and the function of many organs may be affected.
When to suspect sarcoidosis
Because sarcoidosis is a rare disease that can present in many different ways, it is very difficult for patients and providers to suspect and diagnose sarcoidosis. The first thing to know is that the lungs are involved in about 90% of cases. Therefore, lung symptoms such as cough and shortness of breath are the presenting symptoms in most patients. If a patient has a persistent dry cough that lasts for more than three months and no obvious cause has been identified, sarcoidosis should be considered. Similarly, if a patient has a persistent shortness of breath of unclear cause, sarcoidosis could also be the cause. In those cases, the healthcare provider should obtain imaging studies of the chest, which could reveal signs of pulmonary sarcoidosis. Some of the most common findings are bilateral and symmetric hilar lymphadenopathy on chest X-rays and peri-lymphatic nodules on a computed tomography (CT) scan of the chest.
It is important to recognize, however, that sarcoidosis can also affect organs other than the lungs. The eyes and the skin, for example, are frequently involved. When the eyes are involved, patients may experience eye redness, eye pain, blurry vision, or floaters. When the skin is involved, patients may experience skin rashes in many areas such as the face, arms, trunk, and shins. The skin lesions are usually round and raised, and they can affect tattoos and previous scars. When patients have these symptoms, especially in conjunction with the lung symptoms mentioned above, sarcoidosis should be suspected. A referral to an ophthalmologist or a dermatologist can be very helpful.
Less commonly, sarcoidosis can affect vital organs such as the heart or the nervous system. Those manifestations are not as common as the ones listed above, but they can be life-threatening or debilitating for patients. If a patient has sarcoidosis in the heart (also called cardiac sarcoidosis), common symptoms are palpitations, unexplained lightheadedness, or syncope. Palpitations are the sensation that the heart is beating too fast or too slow, or a flutter sensation in the chest area. If those palpitations are happening for more than two weeks, are bothering the patient significantly, and are of an unknown cause, sarcoidosis should be suspected. Similarly, if the syncope (or passing out episodes) has no clear explanation, a heart arrhythmia (which sarcoidosis can cause) should be suspected. If a patient has sarcoidosis of the nervous system (also called neurosarcoidosis), common symptoms include facial paralysis; hearing loss or tinnitus; and weakness, numbness, or tingling sensation in arms or legs. A multidisciplinary evaluation including pulmonologists, cardiologists, and neurologists is very important in those situations.
How to confirm the diagnosis of sarcoidosis
Most of the time, the ideal way to confirm the diagnosis of sarcoidosis is by obtaining a biopsy to look under the microscope and confirm the presence of the granulomas. Since the lungs are the most common organ involved, lung biopsies have the highest chance of confirming the diagnosis. A procedure called bronchoscopy can be done to obtain biopsies from different areas such as the lymph nodes, the airways, or the lung itself. However, depending on each patient’s presentation, other areas may be more accessible for a biopsy.
For example, if a patient has a skin rash that looks suspicious for sarcoidosis, a skin biopsy will be easier and less risky than a bronchoscopy. If a patient has an enlarged lymph node in superficial areas such as the armpit, a needle lymph node biopsy should be done before the bronchoscopy. If a patient has mainly liver involvement, a liver biopsy is feasible and should be considered.
In some cases, a biopsy may not be necessary to confirm the diagnosis. This happens in cases where the presentation is so typical for sarcoidosis that other causes are extremely unlikely. One example is when patients present with bilateral ankle swelling, round and raised skin lesions in the shin areas, fever, and bilateral enlargement of the hilar lymph nodes in the chest. The decision to perform a biopsy or not is a difficult one, and it should be done by an expert in sarcoidosis in conjunction with the patient.
How sarcoidosis is treated
It is important to start by saying that we don’t always need to treat sarcoidosis with medications. If patients are feeling well, with a good quality of life, and with no significant organ dysfunction, one can observe the sarcoidosis for months to years with no treatment. In many cases, patients with sarcoidosis will get better and never require medications. However, when treatment is necessary, the healthcare provider should be ready to discuss the benefits and risks of the many available medications.
Most medications to treat sarcoidosis work by suppressing the immune system, since the immune system in sarcoidosis patients is usually hyperactive. The first option to treat sarcoidosis is prednisone. The benefit of prednisone is that it works fast, but the problem is that it has many potential side effects such as weight gain, hypertension, diabetes, osteoporosis, and cataracts. It is always important to use the least amount of prednisone for the least amount of time possible.
Good secondary options to treat sarcoidosis are methotrexate, azathioprine, leflunomide, mycophenolate, or hydroxychloroquine. The main benefit of those options is that they do not have prednisone-related side effects. However, they take longer to work and they do have other side effects that prednisone doesn’t have such as nausea, diarrhea, and liver injury. A third option to treat sarcoidosis, which we usually leave for more severe presentations, is a group of medications called tumor necrosis factor (TNF) alpha-blockers. Two good options in that group are infliximab and adalimumab. Those are stronger suppressants of the immune system, so the risk of infections is higher when compared to the other medications.
Lastly, it’s important to know that healthy habits can help keep sarcoidosis under control and are just as important as being on the right medication. A healthy diet, good nights of sleep, a consistent exercise routine, and mindfulness activities can all help patients with sarcoidosis feel better and take control of their health.
