What Is Sarcoidosis?

Sarcoidosis (also sometimes called Besnier–Boeck–Schaumann disease) is an inflammatory disease where clumps of immune cells form in various parts of your body. These lumps of inflamed cells are known as granulomas. They can form in almost any organ in your body, but sarcoidosis most commonly affects the lungs.

Approximately 150,000 to 200,000 people in the United States have sarcoidosis, and roughly 27,000 people are diagnosed each year. The lifetime risk of developing this condition is roughly 2.4 percent. People of African and Scandinavian descent have the highest rates of sarcoidosis.

Sarcoidosis is often named after the part of your body it affects. For example, pulmonary sarcoidosis develops in your lungs, and cardiac sarcoidosis develops in your heart.

The exact cause of sarcoidosis isn’t known, but it’s thought that genetic and environmental factors play a role. It’s likely people who are genetically prone to it might develop symptoms when they come into contact with certain triggers, such as infections or exposure to substances like certain pesticides.

What’s the Difference Between Sarcoidosis and Lofgren’s syndrome?

Lofgren’s syndrome is a milder form of sarcoidosis that often resolves without treatment within about six months to two years. It’s especially common in people of Scandinavian heritage.

Symptoms of Sarcoidosis | Sarcoidosis Symptoms

Symptoms of sarcoidosis can vary depending on the affected organs. Any organ in your body can be affected, but the lungs and lymph nodes are the most common locations. The skin and eyes are also common locations affected.

Symptoms may appear and fade quickly, and some people might not experience symptoms for years. Many people with sarcoidosis have no noticeable symptoms but have their disease incidentally found during chest imaging.

Unfortunately, the course of the disease can be unpredictable, and some people can develop life-threatening complications due to granulomas in their organs.

Symptoms most commonly start between the ages of 30 and 50. Here’s a look at some of the potential signs by body part.

General Symptoms

General symptoms of sarcoidosis can include:

• Swollen lymph nodes

• Fatigue

• Generally feeling unwell

• Fever

• Depression

• Unexplained weight loss

• Joint pain or stiffness

• Heart palpitations

• Lightheadedness

• Fainting

• Arrhythmia (abnormal heart rhythm)

• Unexplained pain

Lung Symptoms

About half of people with sarcoidosis have impaired lung function. If your lungs are affected, you may have symptoms, such as:

• Wheezing

• Persistent dry cough

• Chest pain

• Shortness of breath

• Abnormal and high-pitched sound when breathing (stridor)

• Pulmonary hypertension, a serious complication that develops when blood pressure in your lungs is higher than normal

Some people develop a serious lung disease called pulmonary fibrosis that may require a lung transplant if you have serious damage to your lung tissue.

Skin Symptoms

The most common locations where skin symptoms develop are your:

• Face, usually around your eyes, mouth, or nose

• Neck

• Upper body, arms, or legs

• Anywhere you have scars, tattoos, or piercings

Skin symptoms can include:

• A rash of small, itchy, or painful bumps (erythema nodosum)

• Bumps or nodules under your skin

• Raised patches (Lupus pernio)

• Areas of discolored skin

• Nail changes

• Itching

• Swelling

• Warmth

• Tenderness or pain

Eye Symptoms

Ocular sarcoidosis occurs in about 30 to 40 percent of cases. The most common sign is inflammation of the front part of your eye, called uveitis. Uveitis can cause symptoms such as:

• Blurred vision

• Floaters

• Eye pain

• Red eyes

• Light sensitivity

Nervous System Symptoms

Sarcoidosis that leads to problems with your nervous system is called neurosarcoidosis. It can cause symptoms such as:

• Seizures

• Numbness or tingling in certain body parts

• Emotional, behavioral, or other cognitive changes

• Muscle problems

• Erectile dysfunction

Causes of Sarcoidosis

Sarcoidosis is caused by overactivity of your immune system, but the exact reason why it occurs in some people isn’t clear. It’s thought that a combination of genetic and environmental factors might play a role in its development.

Researchers haven’t identified any one gene that’s associated with the development of sarcoidosis, but it does seem to be more common in people with a family history of the condition.

Some genetic diseases are caused by a single gene mutation that’s relatively easy to identify. Other genetic conditions are caused by a complex interaction between many genes, which can make it harder for researchers to figure out which of these genes contribute to a diagnosis. It’s likely that this is the case for sarcoidosis.

Risk Factors for Sarcoidosis

Even though researchers don’t know exactly what causes sarcoidosis, they have identified risk factors that are associated with a higher chance of developing it.

• Sex. Women develop sarcoidosis more often than men, but it can develop in anybody. Men are more likely to develop heart involvement.

• Race. African American women have the highest risk of sarcoidosis in the United States. Overall, people of African and Scandinavian descent seem to develop sarcoidosis more than people of other backgrounds.

• Age. Sarcoidosis most commonly develops between the ages of 30 and 50.

• Family history. People with a family history of sarcoidosis have an increased risk of developing it, too.

• Lymphoma. Lymphoma is a type of blood cancer that starts in lymph nodes. People with lymphoma are more likely to develop sarcoidosis. When they do, they tend to be diagnosed with sarcoidosis about 10 years later than other people who develop sarcoidosis.

• Profession. Ship servicemen in the navy, firefighters, and educators all have higher rates of sarcoidosis, although the exact reasons why are unknown.

• Environmental exposures. If you’re genetically prone to sarcoidosis, you may develop it after contact with certain environmental triggers, including:

• Wood stoves

• Soil

• Tree pollen

• Insecticides

• Gardening materials

• Building supplies

• Metal

• Infections. Some types of infections are linked to sarcoidosis, possibly due to the body producing granulomas as part of its defense reaction. Potential infectious agents include:

• Leptospira and mycoplasma bacteria

• Herpes virus

• Retrovirus

• Chlamydia

• Lyme disease

• Pneumocystis jirovecii fungi

• Mycobacterium and Propionibacterium species

• Hepatitis C

Diagnosing Sarcoidosis | Diagnosis of Sarcoidosis

Diagnosing sarcoidosis can be tricky because the symptoms are often general and could have many possible explanations. For many people, it can take several months to years to get a diagnosis.

Initial tests your healthcare provider may perform include:

• A physical exam

• A review of your personal and family medical history

• A review of your symptoms

Other tests that may be administered to help rule out other conditions, confirm the diagnosis, and monitor for complications include:

• Pulmonary function tests to measure lung function

• Bronchoscopy to visualize your lungs

• Chest x-ray

• Blood tests and urine tests

• Chest CT scan or other imaging tests

• Eye exam

• Echocardiogram of your heart

• Neurological tests

• Biopsy, where a doctor collects a small tissue sample for testing.

Treatment of Sarcoidosis

Sarcoidosis doesn’t have a cure, but doctors can prescribe you treatments to help keep your symptoms under control.

Medications

The most common treatment for sarcoidosis is a corticosteroid, such as prednisone. These mediations help reduce immune system activity and inflammation. Corticosteroids can be taken orally, inhaled, through injections or eye drops, or applied topically.

Long-term use of steroids administered orally in high doses can cause side effects such as high blood sugar and blood pressure.

While taking these medications, it’s common to develop an oral yeast infection called thrush.

Other medications used to treat sarcoidosis include:

• Monoclonal antibodies. Monoclonal antibodies are immunotherapy drugs used to reduce your overactive immune system. They’re usually administered through an IV or injections. Common drug choices include rituximab, infliximab, golimumab, and adalimumab.

• Rheumatoid arthritis medications. To reduce joint inflammation, you may receive rheumatoid arthritis medications such as methotrexate, azathioprine, or leflunomide. These are usually delivered as pills or shots.

• Malaria drugs. You may receive the medications hydroxychloroquine or chloroquine to help treat sarcoidosis of theskin or joints.

• Corticotropin. Your doctor may prescribe corticotropin if prednisone doesn’t work or causes severe side effects.

• Pentoxifylline. You may receive this medication to improve blood flow.

• Antibiotics. Antibiotics are used to treat bacterial infections. You may be at an increased risk of developing bacterial infections if you’re taking medications that reduce your immune system activity.

New medication options are still being explored in clinical trials.

Other Treatments

Sarcoidosis can cause complications in many parts of the body. You may receive many other types of treatment to manage these symptoms, like the following.

For Breathing Problems

• Oxygen therapy

• Inhaled corticosteroids

• Vasodilator medications to reduce pulmonary hypertension (high blood pressure in the blood vessels supplying your lungs)

• Lung rehabilitation

For Heart Problems

• Implantable cardioverter defibrillator, a device that helps prevent the heart from suddenly stopping

• Blood pressure medications

• Heart transplant, in the rare cases where sarcoidosis may progress to heart failure

For Brain, Nerve, or Muscle Problems

• Anti-seizure medicines

• Pain medicines

• Physical therapy to improve your mobility and muscle strength

• Surgery if you develop a brain tumor

Prevent Sarcoidosis

Unfortunately, because it’s not clear what causes sarcoidosis, it’s also not clear how to prevent it. More research is needed to understand sarcoidosis prevention.

In the meantime, healthy lifestyle habits may help you prevent or minimize complications if you do develop the condition. For example, taking oral corticosteroids can lead to high blood sugar, so adopting a nutrient-dense, low-sugar diet may help prevent complications such as diabetes.

Always follow your healthcare provider’s instructions in terms of which medications to take, what dose, and how long you should take them. You should also go to all your scheduled follow-up appointments to make sure treatment is working.

The course of sarcoidosis is unpredictable and may take a team of doctors working in fields such as dermatology, neurology, and cardiology to help you manage your symptoms and improve your outlook.