Understanding Sarcoidosis Disease: Causes, Symptoms, Treatment and Prevention

Sarcoidosis is an inflammatory disease characterised by the growth of granulomas in any part of the body. A patient suffering from sarcoidosis most commonly observes red, swollen lumps (granulomas) in the affected organ. The symptoms, however, may vary from nonexistent to severe, depending on the progression of the disease and the location of the lump. Though the exact cause of the disease is still unclear, experts believe it could be due to an abnormal immune response to an unknown substance. Continuing on the topic, let’s dive deep into the causes, symptoms, treatment, and prevention measures involved in Sarcoidosis disease.

What is Sarcoidosis?

Sarcoidosis is a complex inflammatory disease where abnormal collections of inflammatory cells, known as granulomas, form in the affected organ/part of the body, most commonly in the lungs and lymph nodes. Once formed, these granulomas can affect the normal structure and function of the affected organs.

Who does Sarcoidosis Affect?

Sarcoidosis can affect individuals of any age, race, or gender. However, there are some patterns that are being observed based on different factors, such as:

• Age and gender: Sarcoidosis most commonly affects adults between the ages of 20 to 40 years, although it can occur at any age. Women are slightly more likely to develop sarcoidosis than men.
• Ethnicity: It appears to be more prevalent and more severe in certain ethnic groups, particularly people of African descent and those of Northern European descent.
• Genetic factors: There is evidence suggesting a genetic predisposition to sarcoidosis, as it tends to cluster in families. Having a family member with sarcoidosis increases the risk.
• Environmental factors: Exposure to certain environmental factors, such as dust, chemicals, or infectious agents, may also play a role in triggering sarcoidosis in susceptible individuals.
• Occupation: Certain occupations, such as firefighting, agricultural work, or exposure to inorganic dust, may increase the risk due to potential environmental exposures.
• Autoimmune conditions: Individuals with other autoimmune diseases might have a higher risk of developing sarcoidosis, as their immune systems may already be predisposed to abnormal responses.

Note: While anyone can develop sarcoidosis, the disease's onset and severity can vary widely among different regions, populations, and individuals.

How Common is Sarcoidosis?

Sarcoidosis is considered relatively rare but not uncommon. Its prevalence varies widely across different populations and geographic regions. For instance, in the US, it is estimated that sarcoidosis occurs in about 10 to 40 per 100,000 people per year, whereas in India, the prevalence of sarcoidosis is estimated to be between 61.2 to 150 cases per 100,000 population. This variance in estimates is partly attributable to underreporting and the diagnostic challenges posed by the overlapping symptoms with tuberculosis, a more prevalent disease in the country.

What are the Stages of Sarcoidosis?

Sarcoidosis is staged based on the extent of granulomatous involvement in the body, particularly in the lungs. The most commonly used staging system is the Scadding classification, which describes five stages of sarcoidosis:

• Stage 0: No evidence of disease, even on chest X-ray.
• Stage I: Enlarged lymph nodes but no lung involvement.
• Stage II: Enlarged lymph nodes with lung involvement.
• Stage III: Lung involvement without enlarged lymph nodes.
• Stage IV: Advanced fibrosis (scarring) in the lungs.

Staging helps doctors to determine the severity and progression of the disease, guide treatment decisions, and monitor response to therapy. It's important to note that sarcoidosis can affect organs beyond the lungs, and staging may also consider the involvement of other organs such as the skin, eyes, liver, and heart.

What are the Causes of Sarcoidosis?

While the exact cause of sarcoidosis is unknown, it is believed to result from an abnormal immune response to an unknown substance. Potential causes and contributing factors include:

• Genetic factors: Certain genetic predispositions may make individuals more susceptible to developing sarcoidosis. Family history and specific genetic markers can increase the risk.
• Infections: Some researchers believe that bacteria, viruses, or fungi might trigger sarcoidosis in susceptible individuals. However, no specific pathogen has been conclusively linked to the disease.
• Environmental exposures: Exposure to certain environmental factors, such as dust, chemicals, or mould, might play a role in triggering sarcoidosis.
• Autoimmune reactions: Sarcoidosis may be an autoimmune condition where the body's immune system attacks its tissues and organs.

What are the Symptoms of Sarcoidosis?

Sarcoidosis is a systemic inflammatory disease that can affect multiple organs in the body. The symptoms can vary widely depending on which organs are involved. Here's a breakdown of the symptoms associated with sarcoidosis in different parts of the body:

General symptoms of sarcoidosis

• Fatigue
• Fever
• Weight loss
• Night sweats
• Malaise (general feeling of discomfort or illness)

Symptoms of sarcoidosis in lungs

• Persistent dry cough
• Shortness of breath (dyspnea)
• Chest pain
• Wheezing
• Coughing up blood (hemoptysis)

Symptoms of sarcoidosis in eyes (Ocular sarcoidosis)

• Blurred vision
• Eye pain
• Redness
• Sensitivity to light (photophobia)
• Floaters (spots in vision)

Symptoms of Sarcoidosis on Skin (Cutaneous sarcoidosis)

• Skin lesions
• Skin discoloration
• Skin nodules

Symptoms of sarcoidosis in heart (Cardiac sarcoidosis)

• Palpitations (irregular heartbeat)
• Chest pain
• Shortness of breath
• Fainting or near-fainting episodes (syncope)
• Swelling (edema) due to fluid retention

Symptoms of Sarcoidosis in the Nervous System (Neurological Sarcoidosis)

• Facial paralysis (Bell's palsy)
• Headaches
• Vision problems
• Seizures
• Cognitive impairment or memory problems

Note: Sarcoidosis can affect other organs as well, such as the liver, kidneys, and joints, leading to specific symptoms related to those areas. The severity and presentation of symptoms can vary widely among individuals, and some people may have mild or no symptoms at all.

How is Sarcoidosis Diagnosed? 

Diagnosing sarcoidosis can be challenging due to the variability of symptoms and the fact that it can affect multiple organs. The diagnosis typically involves a combination of medical history review, physical examinations, imaging tests, laboratory tests, and sometimes biopsies. Here are the primary steps and methods used in diagnosing sarcoidosis:

Medical history and physical examination

The doctor will ask about the patient's symptoms, their duration, and any potential exposures to substances that might trigger sarcoidosis. After that, a physical examination will be performed to check for signs of the disease, such as swollen lymph nodes or skin lesions.

Imaging tests

Diagnosing sarcoidosis may involve a number of imaging tests:

• Chest X-ray: A chest x-ray is often one of the first tests performed. It can reveal enlarged lymph nodes or lung involvement.
• CT scan: A CT scan of the chest provides more detailed images and can help assess the extent and severity of lung involvement.
• MRI scan: MRI scans might be used if there is suspicion of sarcoidosis in the brain, spinal cord, or heart.
• PET scan: This imaging test can identify active inflammation throughout the body.

Pulmonary function test

The doctor may prescribe a pulmonary function test to assess the functioning of the patient’s lungs, and determine if sarcoidosis has affected lung function.

Laboratory tests

• Blood Tests: Blood tests can check for elevated levels of calcium, liver enzymes, and other markers that might indicate sarcoidosis.
• ACE Levels: Elevated angiotensin-converting enzyme (ACE) levels can be a marker of sarcoidosis, although not specific to the disease.
• Electrolytes and Kidney Function Tests: These tests can help assess the involvement of organs like the kidneys.

Biopsy

• Skin biopsy: If there are skin lesions, a biopsy of the skin can help confirm the diagnosis.
• Lymph node biopsy: Enlarged lymph nodes can be biopsied to check for granulomas.
• Lung biopsy: In some cases, a more invasive lung biopsy may be necessary to obtain tissue for examination.

Bronchoscopy with biopsy

A bronchoscopy involves inserting a thin, flexible tube through the nose or mouth into the lungs. Tissue samples (biopsies) can be taken from the lungs or lymph nodes to look for granulomas, which are a typical sign of sarcoidosis.

Other tests

• Eye examination: Since sarcoidosis can affect the eyes, an eye examination by an ophthalmologist may be conducted.
• Cardiac testing: If there are symptoms suggesting heart involvement, the doctor may recommend tests such as an ECG, echocardiogram, or cardiac MRI.
• Testing for other diseases: Part of diagnosing sarcoidosis involves ruling out other diseases that can cause similar symptoms, such as tuberculosis, fungal infections, or other inflammatory conditions.

Note: The combination of these tests and evaluations helps healthcare providers confirm the diagnosis of sarcoidosis and determine the extent and severity of the disease, thereby helping doctors to proceed with the appropriate treatment and management.

How is Sarcoidosis Treated?

The treatment of sarcoidosis depends on the severity of the disease, the organs involved, and the symptoms experienced by the patient. While in many cases, sarcoidosis resolves on its own without the need for any treatment, but when the treatment is necessary, it focuses on reducing inflammation, managing symptoms, and preventing organ damage. Here are the primary approaches to treating sarcoidosis:

Observation

For mild cases or when the disease is not causing significant symptoms or organ dysfunction, the doctor may recommend regular monitoring through medical check-ups and imaging tests, to track the progression of the disease.

Medications

• Corticosteroids: Corticosteroids, such as Prednisone, are prescribed to reduce inflammation and suppress the immune system. These are most commonly used for acute flare-ups or in severe cases of sarcoidosis, in which vital organs are being affected.
• Immunosuppressive drugs: These are prescribed to patients who do not respond to corticosteroids or require long-term treatment. Commonly prescribed immunosuppressants include methotrexate, azathioprine, and mycophenolate mofetil. These are used to control the immune system and reduce inflammation.
• Biologic agents: Biologic agents are often prescribed for refractory sarcoidosis or severe cases not responding to other treatments. These include tumour necrosis factor (TNF) inhibitors such as infliximab or adalimumab to target specific components of the immune system involved in inflammation.
• Antimalarial drugs: Antimalarial drugs, such as hydroxychloroquine or chloroquine, are prescribed for skin sarcoidosis or mild cases affecting the skin and joints, to reduce skin lesions and joint symptoms.

Organ-specific treatments

• Lungs: Inhaled corticosteroids, oxygen therapy, or pulmonary rehabilitation is prescribed to manage respiratory symptoms, and improve lung function and breathing.
• Heart: Antiarrhythmic medications, pacemakers, or implantable cardioverter-defibrillators (ICDs) are used to manage heart rhythm problems and improve heart function.
• Eyes: Topical corticosteroids, immunosuppressive eye drops, or systemic medications are used to reduce inflammation and prevent vision loss.
• Skin: Topical corticosteroids, antimalarial drugs, or systemic medications are prescribed for severe cases to reduce skin lesions and improve appearance.
• Nervous System: High-dose corticosteroids, immunosuppressive drugs, or biologic agents are used to reduce inflammation in the nervous system and prevent complications.

What are the Complications of Sarcoidosis?

As sarcoidosis can affect multiple organs in the body, it can lead to a variety of complications. Depending upon the organ being affected, here are some of the common complications of sarcoidosis:

• Pulmonary fibrosis: Scarring and stiffening of the lung tissue, which can lead to respiratory failure.
• Pulmonary hypertension: High blood pressure in the arteries of the lungs, causing strain on the heart.
• Bronchiectasis: Damage to the airways, leading to chronic infections and impaired lung function.
• Cardiac sarcoidosis: Involvement of the heart, which can lead to arrhythmias, heart block, heart failure, and sudden cardiac death.
• Pericarditis: Inflammation of the pericardium, the sac surrounding the heart, leading to chest pain and other symptoms.
• Uveitis: Inflammation of the uvea, the middle layer of the eye, which can cause pain, redness, blurred vision, and even blindness if untreated.
• Glaucoma and cataracts: Secondary complications from prolonged inflammation or corticosteroid treatment.
• Lupus Pernio: Chronic skin lesions, often on the face, which can be disfiguring.
• Erythema nodosum: Painful red or purple lumps, usually on the legs, which are often associated with acute sarcoidosis.
• Neurosarcoidosis: Involvement of the nervous system, leading to facial palsy, seizures, meningitis, and other neurological issues.
• Hypercalcemia: Elevated calcium levels in the blood, which can cause kidney stones and, if severe, kidney failure.
• Granulomatous nephritis: Inflammation of the kidneys due to granuloma formation, leading to impaired kidney function.
• Hepatic Sarcoidosis: Inflammation of the liver, which can cause abnormal liver function tests and, in rare cases, cirrhosis.
• Arthritis: Joint inflammation, leading to pain and stiffness.
• Muscle weakness: Involvement of the muscles, causing weakness and fatigue.

Other organ complications

• Spleen and bone marrow Involvement: Leading to anaemia and other blood disorders.
• Lymphatic system: Enlargement of lymph nodes, which can be painful and cause discomfort.

General complications

• Fatigue: Persistent tiredness and weakness, which can significantly impact quality of life.
• Weight loss: Unintentional weight loss due to chronic inflammation and systemic involvement.

Complications from Medications

Corticosteroids

• Weight gain, increased appetite, and mood swings.
• High blood pressure, hyperglycemia, and increased diabetes risk.
• Osteoporosis and increased fracture risk.
• Increased susceptibility to infections.
• Cataracts and glaucoma with long-term use.

Mitigation strategies

• Use the lowest effective dose for the shortest duration.
• Monitor bone density and blood pressure.
• Supplement with calcium and vitamin D.

Immunosuppressive drugs

• Increased infection risk due to suppressed immune function.
• Liver toxicity and potential liver damage.
• Bone marrow suppression leading to anaemia, leukopenia, and thrombocytopenia.

Mitigation strategies

• Regular blood tests to monitor liver function and blood cell counts.
• Prompt infection treatment.

Biologic Agents

• Increased risk of serious infections, including tuberculosis.
• Development of antibodies against the biologic agent, reducing its effectiveness.
• Possible development of autoimmune conditions.

Mitigation strategies

• Screen for latent infections before starting treatment.
• Monitor for signs of infection and autoimmune reactions.

Antimalarial drugs

• Retinal toxicity leading to vision problems.
• Gastrointestinal upset and skin reactions.

Mitigation strategy

• Regular eye examinations to detect early signs of retinal damage.

How to Prevent Sarcoidosis Disease?

Preventing sarcoidosis can be challenging due to its unknown cause, but certain lifestyle and supportive measures can help reduce the risk of developing or exacerbating the condition. People with high risk of sarcoidosis are asked to:

• Maintain a healthy lifestyle through a balanced diet rich in fruits, vegetables, and whole grains, along with regular exercise to support overall immune health.
• Avoiding exposure to potential environmental triggers, such as dust, chemicals, and mould, is crucial, especially for individuals in high-risk occupations.
• Avoid smoking and secondhand smoke to maintain lung health.

For those with a family history of sarcoidosis, genetic counselling and regular health check-ups are recommended to track disease progression, manage treatment side effects, and adjust therapies as needed.

• Regular monitoring and follow-up are recommended to track disease progression, manage treatment side effects, and adjust therapies as needed.
• If required support groups and counselling is recommended to provide emotional support and coping strategies for living with a chronic illness.

Additionally, awareness of symptoms like persistent cough, shortness of breath, and unexplained fatigue can help with timely medical consultation and intervention, improving outcomes and managing the disease more effectively.

Wrap up

While sarcoidosis remains a relatively obscure health concern in India, it is still advisable to stay vigilant and seek professional medical advice if you experience any symptoms of this disease. At Max Healthcare, we are committed to providing specialised care and support for those affected by sarcoidosis. Our dedicated team of experts offers personalised treatment plans, advanced diagnostic tools, and comprehensive care to help you manage your symptoms effectively. Don't let sarcoidosis control your life—take charge of your health. Schedule an appointment with Max Healthcare today and let us help you on your journey towards better health and well-being.