Sarcoidosis

Overview

Sarcoidosis is a disease characterized by the growth of tiny collections of inflammatory cells (granulomas) in any part of the body, most commonly affecting the lungs and lymph nodes. The cause of sarcoidosis is unknown, but it is thought to result from an overreaction of the body's immune system in response to an unknown substance, possibly triggered by bacteria, viruses, dust, or chemicals. People with a genetic predisposition may be more likely to develop the disease. There is no cure for sarcoidosis, but most people do well with no treatment or only modest treatment. Symptoms can vary depending on the affected organs, and they may include fatigue, swollen lymph nodes, weight loss, joint pain, persistent dry cough, shortness of breath, eye problems, heart symptoms, and skin problems, among others. If you have signs and symptoms of sarcoidosis, it is important to see your doctor for proper diagnosis and treatment.

Understanding the disease

Symptoms

Sarcoidosis can present with a range of symptoms, depending on which organs are affected. General symptoms may include fatigue, swollen lymph nodes, weight loss, and joint pain. When affecting the lungs, sarcoidosis can cause persistent dry cough, shortness of breath, wheezing, and chest pain. Skin symptoms may include a rash, disfiguring sores, areas of skin that are darker or lighter in color, and growths under the skin. Eye symptoms may include blurred vision, eye pain, burning or itching eyes, severe redness, and sensitivity to light. Cardiac sarcoidosis can cause symptoms related to heart function such as chest pain, shortness of breath, and irregular heartbeats. It is important to see a doctor if you have signs and symptoms of sarcoidosis. It is important to note that these symptoms can be associated with other conditions and it is always best to consult a medical professional for an accurate diagnosis.

Risk Factors

Risk factors for developing sarcoidosis include:

1. Age and sex: Sarcoidosis can occur at any age, but it often occurs between the ages of 20 and 60 years. Women are slightly more likely to develop the disease.
2. Race: People of African descent and those of Northern European descent have a higher incidence of sarcoidosis. African-Americans are more likely to have involvement of other organs along with the lungs.
3. Family history: If someone in your family has had sarcoidosis, you are more likely to develop the disease.

Development

Sarcoidosis results from the growth of tiny collections of inflammatory cells (granulomas) in various parts of the body, most commonly the lungs and lymph nodes. The exact cause of sarcoidosis is unknown, but experts believe it stems from an overreaction of the immune system in response to an unknown substance, possibly triggered by bacteria, viruses, dust, chemicals, or a potential abnormal reaction to the body's own proteins (self-proteins) in people who are genetically predisposed. Sarcoidosis can affect multiple organs, including the eyes, skin, heart, and other organs. The disease may develop gradually or suddenly and may last for years, sometimes causing organ damage.

Assessment and Diagnosis

Triage

You should see a doctor if you have signs and symptoms of sarcoidosis, which may include fatigue, swollen lymph nodes, weight loss, pain and swelling in joints, persistent dry cough, shortness of breath, wheezing, chest pain, a rash of red or reddish-purple bumps, disfiguring sores (lesions) on the nose, cheeks and ears, areas of skin that are darker or lighter in color, growths under the skin (nodules), eye symptoms like blurred vision, eye pain, burning, itching or dry eyes, severe redness, sensitivity to light, and heart symptoms such as chest pain, shortness of breath, fainting, irregular heartbeats, rapid or fluttering heartbeats, and swelling caused by excess fluid.

Diagnosis

To diagnose sarcoidosis, your doctor will begin with a physical exam and discuss your symptoms. They may also perform tests such as blood and urine tests, chest X-ray, CT scan of the chest, lung function tests, electrocardiogram (ECG), eye exam, and possibly positron emission tomography (PET) scan or magnetic resonance imaging (MRI). A biopsy may be conducted to examine tissue samples from affected areas, such as the skin, lungs, or lymph nodes. Regular follow-up appointments and monitoring are important for determining the effectiveness of treatments and detecting complications.

Management and Treatment

Complications

Potential complications of sarcoidosis include long-term problems affecting the lungs, eyes, kidneys, heart, and other organs. Untreated pulmonary sarcoidosis can lead to permanent scarring in the lungs (pulmonary fibrosis), making it difficult to breathe and potentially causing pulmonary hypertension. Inflammation can affect the eyes, causing damage to the retina, which may cause blindness. Sarcoidosis can also affect kidney function and lead to kidney stones or kidney failure. Cardiac sarcoidosis can result in granulomas in the heart, disrupting heart rhythm, blood flow, and normal heart function, which may rarely lead to death.

Treatment

There is no specific cure for sarcoidosis, but treatments are available to manage symptoms and prevent complications. The choice of treatment depends on the severity and location of the disease, as well as the individual's overall health. Mild cases of sarcoidosis may not require treatment, as the disease may resolve on its own. In such cases, your doctor may recommend monitoring your condition closely and waiting to see if symptoms worsen or if complications arise. For more severe cases or cases that affect the eyes, heart, lungs, or other vital organs, treatments may include:

1. Steroids: Prednisone, a powerful corticosteroid, is often prescribed to reduce inflammation and suppress the immune system's overactive response.
2. Immunosuppressive drugs: These medications help regulate the immune system and prevent it from attacking healthy tissues. Examples include methotrexate, azathioprine, and mycophenolate mofetil.
3. Biologics: In some cases, biologic therapies that target specific immune system components may be used to treat sarcoidosis. Examples include infliximab and adalimumab.
4. Nonsteroidal anti-inflammatory drugs (NSAIDs): Over-the-counter pain relievers like ibuprofen or naproxen can help manage pain and reduce inflammation.
5. Ophthalmic medications: For eye-related symptoms, your doctor may prescribe eye drops or ointments to alleviate discomfort and prevent damage to the retina.
6. Medications to manage specific symptoms: Depending on the symptoms, your doctor may prescribe medications to address specific issues, such as pain, cough, or cardiac problems. It is essential to work closely with your healthcare provider to determine the most appropriate treatment plan for your specific situation. Regular follow-ups and monitoring are necessary to assess the effectiveness of the treatment and detect any potential complications.

Preparing for medical consultation

To prepare for an appointment for sarcoidosis, you should:

1. Make a list of your symptoms, including when they started and how they have progressed.
2. Note any family history of sarcoidosis or other medical conditions you have.
3. Include a list of any medications, supplements, or herbal products you are currently taking.
4. Prepare any questions you have for your doctor, such as concerns about medication side effects, managing other health conditions, or seeking additional resources for information.
5. Consider bringing a family member or friend along for support and to help remember important details from the appointment. By being prepared and proactive, you can make the most of your appointment and work with your doctor to manage your sarcoidosis effectively.