How does it feel to be affected by a rare disease? People who have sarcoidosis can explain. The problem with rare diseases is that compared to common diseases, not much is known about them, which can lead to missed diagnosis and failure to provide proper medical treatment.

Sarcoidosis is a rare inflammatory disease that affects multiple organs, but most commonly the lungs and lymph nodes. It is not a life-long illness and may resolve on its own or with medication, but is considered chronic if it lasts longer than 3-5 years. Advanced forms of the disease may affect not only the lungs, but also the eyes, skin, heart, nervous system, liver, and kidneys. If left untreated, the disease can cause permanent, severe damage and become life-threatening.

There is no cure for sarcoidosis. According to the Foundation for Sarcoidosis Research (FSR), the disease is often misdiagnosed and misunderstood. This non-profit organization observes Sarcoidosis Awareness Month every year in April to raise awareness about this rare disease and encourage efforts to find a cure for it.

“Sarcoidosis Awareness Month is a great opportunity to highlight those affected by sarcoidosis, create conversations, and gain a better understanding of how the disease impacts those in our communities every single day” (www.stopsarcoidosis.org).

Among other things, Sarc warriors and their loved ones are encouraged to wear purple to spread the word.

Fast Facts

  • FSR estimates that there are less than 200,000 cases per year in the United States, which makes sarcoidosis a rare disease.
  • As a result of this disease, the immune system causes granulomas or clusters of inflamed tissues to develop in certain organs of the body. These granulomas may affect the normal structure and functioning of the affected organ(s).
  • How sarcoidosis affects a person depends on the organs that are affected by the disease, and its severity.
  • There are different forms of sarcoidosis. While up to 60% of people have milder forms of sarcoidosis that do not need any treatment and recover on their own, 30% have chronic diseases that may or may not need treatment, and 10% have a progressive long-lasting disease with serious damage to organs or tissues that can be fatal.
  • Sarcoidosis affects patients of all ages and races. The disease affects African Americans at a higher rate than Caucasians and other races.

Forms of Sarcoidosis

Sarcoidosis presents in different forms. The most common types are:

  • Lofgren’s Syndrome: This is an acute, milder form of sarcoidosis. It is usually seen in young to middle-aged adults and in 90% of cases, spontaneous remission occurs within 2 years.
  • Pulmonary sarcoidosis: Treatment-resistant pulmonary disease is the leading cause of death from the disease. Impaired lung function causes shortness of breath, a persistent cough, chest pain, and wheezing.
  • Cardiac sarcoidosis: In cardiac sarcoidosis, the granulomas interfere with the electrical signals that support the contraction of the heart muscle. The condition is characterized by an irregular heartbeat. In the advanced stages of cardiac sarcoidosis, sudden death is caused by heart block.
  • Neurosarcoidosis: In this condition, granulomas develop around the nervous system, typically in hormone-producing regions of the brain. Symptoms can be debilitating, based on the nerves affected.
  • Ocular sarcoidosis: In about 75% of patients, sarcoidosis affects the eyes or surrounding structures. Ocular sarcoidosis causes inflammation of the iris and surrounding tissues with symptoms like redness, swelling, pain, and vision abnormalities.
  • Musculoskeletal sarcoidosis: This rare condition affects the bones, muscles, or joints and usually has no symptoms. However, joint inflammation can cause arthritis-like symptoms in the feet, ankles, and knees, resulting in pain and restricting the range of movement.

Cutaneous sarcoidosis, hepatic sarcoidosis and renal sarcoidosis are other manifestations of this inflammatory disease. When granulomas are present in several organs, the condition is referred to as multiorgan involvement. The number of organs impacted may differ from patient to patient.
What Are the Symptoms of Sarcoidosis?

Though the exact cause of sarcoidosis is unknown, experts believe it is triggered by environmental and genetic factors. A person who has a relative with sarcoidosis is more likely to develop the condition. Exposure to gas emissions, pollution, heavy metals, and fumes can also trigger the development of the disease.

The common symptoms of sarcoidosis are a persistent dry cough, fatigue, and shortness of breath. Based on the organs affected, other symptoms may include:

  • Wheezing
  • Hoarseness of voice
  • Fatigue
  • Fever
  • Red eyes and blurred vision
  • Swollen and painful joints
  • Enlarged lymph glands
  • Kidney stone formation
  • Enlarged liver
  • Skin rashes
  • Night sweats
  • Weight loss
  • Abnormal or missed heartbeats and heart failure
  • Hearing loss, meningitis, seizures, or psychiatric disorders

Some people may have mild or even no obvious symptoms even if more than one organ is affected. In others, symptoms will appear suddenly and/or severely, and reduce soon. Others may have symptoms that appear slowly and imperceptibly, and recur or last over a long period of time.

Diagnosis

Diagnosing sarcoidosis is a challenge because the symptoms of the disorder mimic those of many other diseases. People may not know they have the disease until it has advanced. When symptoms are mild or absent, treatment may not be needed, though doctors cannot predict whether the disease will get worse.

Physicians use a combination of modalities to diagnose sarcoidosis.  In addition to the review of medical history and physical exam, tests will be conducted to assess the condition of the lungs, lymph nodes, and bronchial tubes.  Diagnostic tools used include chest X-rays, high resolution CT scans, pulmonary function tests, and bronchoscopy.

ICD-10 Codes for Sarcoidosis

Pulmonary medical billing involves reporting the patient’s diagnosis, symptoms, complaints, conditions, or problems using specific ICD-10 codes.

The ICD-10 codes for sarcoidosis are listed under Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89).

  • The ICD-10 codes for sarcoidosis are: D80-D89 Certain disorders involve the immune mechanism.
  • In ICD-10, there are specific codes for lung conditions caused by sarcoidosis.
  • D86.0 is the code for sarcoidosis of the lung and D86.2 is the code for sarcoidosis of the lung and lymph nodes.
  • D86.1 should be used for sarcoidosis of the lymph nodes seen in stage I sarcoidosis.
  • The documentation in the patient’s record should include a description of the chest x-ray or chest CT findings, pulmonary function studies, and pathologic findings supporting sarcoidosis.

ICD-10 also has codes for different types of sarcoidosis.

Sarcoidosis D86

  • D8.60 Sarcoidosis of lung
  • D8.61 Sarcoidosis of lymph nodes
  • D86.2 Sarcoidosis of lung with sarcoidosis of lymph nodes
  • D86.3 Sarcoidosis of skin
  • D86.81 Sarcoid meningitis
  • D86.82 Multiple cranial nerve palsies in sarcoidosis
  • D86.83 Sarcoid iridocyclitis
  • D86.84 Sarcoid pyelonephritis
  • D86.85 Sarcoid myocarditis
  • D86.86 Sarcoid arthropathy
  • D86.87 Sarcoid myositis
  • D86.89 Sarcoidosis of other sites
  • D86.9 Sarcoidosis, unspecified

Treatment

In many cases, sarcoidosis has only mild symptoms and does not require treatment. Treatment, if required, will depend on the severity and extent of the patient’s condition.

Inflammation of the tissues is treated using medications such as corticosteroids, immunosuppressants, hydroxychloroquine, and tumour necrosis factor-alpha (TNF-alpha) inhibitors. Other medications may be used to treat specific symptoms or complications. Ongoing monitoring and regular follow-up are important for patients with symptomatic sarcoidosis. Best practices to improve the patient’s quality of life include:  following a well-balanced, nutritious diet, staying hydrated, getting proper sleep at night, regular exercise, weight management and quitting smoking.

Listen to the Patient’s Voice, Drive Awareness

In 2021, FSR reached out to the community on the occasion of Sarcoidosis Awareness Month. Here’s what some FSR patient advocates had to say:

‘Awareness Month is important to me because… it gives me the chance to tell the world that there are so many incredible people out there with a disease that is so rare, little known and often misunderstood. The fact that these folks continue to accomplish so many incredible things, all while living with sarcoidosis, is amazing. The public, government, and everyone in general needs to hear and learn about SARC!” – Kraig M.

“Awareness Month is important to me because it gives a voice to the voiceless. It gives opportunities for Sarc Warriors to share their stories, who may not have had the chance in earlier times. It creates a platform for the actuality of sarcoidosis to be shared. It gives us 30 days to tell our stories and how we are affected by this illness. It also gives us the chance to inspire, encourage and motivate others. To be able to show people what strength looks like is amazing. Awareness Month is important because it is strength personified.” – Chasta P.

Research is focused on finding the cause of sarcoidosis, furthering the understanding of the disease manifestations, developing new treatment approaches, and enhancing care for patients with all forms of sarcoidosis. In fact, research on rare diseases like sarcoidosis is crucial to understand more about them, improve management, support the development of new medications, avoid misdiagnosis and provide timely treatment.

Anyone can participate in Sarcoidosis Awareness Month by engaging in activities to spread the word. Patients with sarcoidosis are encouraged to share their experiences and guide others to FSR to learn more about how they can support research and the organization’s educational programs.

Here are answers to some commonly asked questions about Sarcoidosis