Patient Education

Sarcoidosis

What is Sarcoidosis?
The immune system plays a vital role in protecting the body from infections. However, in some cases, it overreacts, much like an allergic response. Inflammation occurs when the immune system is highly active. In sarcoidosis (pronounced SAR-COY-DOE-SIS), this immune activity leads to persistent inflammation, forming granulomas—small clusters of immune cells. These granulomas most commonly affect the lungs, lymph nodes, and skin, but they can develop in other organs as well. When too many granulomas develop, over time they can disrupt the structure and function of affected organs and cause organ damage. If left unchecked, chronic inflammation may lead to fibrosis, or permanent scarring of different organ tissue.

How rare is Sarcoidosis?
Sarcoidosis affects an estimated 150,000 to 200,000 people in the United States and approximately 1.2 million individuals worldwide.

What Causes Sarcoidosis?
The exact cause of sarcoidosis remains unknown. Research suggests that genetics may play a role, making some individuals more likely to develop the disease. Environmental factors, such as exposure to certain bacteria, viruses, or chemicals, might also trigger sarcoidosis in people who are already susceptible. However, the specific triggers are not yet fully understood.

How Does Sarcoidosis Progress?
The course of sarcoidosis varies from person to person. For about half of those diagnosed, inflammation resolves on its own, leading to remission without the need for long-term medication. However, in other cases, the disease becomes chronic, requiring ongoing medical treatment to manage symptoms and prevent complications.

Since sarcoidosis can be unpredictable, regular medical checkups are essential. If symptoms persist, doctors may recommend medications to help control inflammation and maintain organ function.

Sarcoidosis most commonly affects the lungs, occurring in approximately 90% of cases, but it can involve nearly any organ in the body. Despite advances in research, sarcoidosis remains challenging to diagnose, with limited treatment options and no known cure.

The disease presents with varying severity among individuals. In some cases, sarcoidosis resolves on its own without long-term effects. Others may experience persistent but non-progressive symptoms that impact their quality of life. However, up to one-third of patients will require long-term treatment, as their disease remains active beyond 2 to 5 years, making it chronic, debilitating, and potentially life-threatening.

Pulmonary Sarcoidosis

What is Pulmonary Sarcoidosis?
Pulmonary sarcoidosis is a rare disease characterized by the formation of granulomas—small clusters of inflamed tissue—that can interfere with organ function. While the exact cause of sarcoidosis remains unknown, it is believed to result from an abnormal immune response.

Sarcoidosis most commonly affects the lungs and lymph nodes but can involve almost any organ. When the disease primarily impacts the lungs, it is referred to as pulmonary sarcoidosis. Some individuals may have sarcoidosis limited to the lungs, while others experience it in multiple organs. In rare cases, sarcoidosis occurs outside the lungs without lung involvement.

Pulmonary sarcoidosis can lead to structural changes in the lungs, affecting breathing and lung function. In some cases, the inflammation resolves on its own without treatment. However, in more severe forms of the disease, persistent inflammation can cause permanent lung damage, even with medical intervention.

What Causes Pulmonary Sarcoidosis?
The exact cause of pulmonary sarcoidosis remains unknown. The disease is more common in people of African and Scandinavian descent, suggesting a possible genetic link. Some experts believe that environmental factors, such as bacteria, viruses, or chemicals, may trigger an abnormal immune response leading to the disease. Ongoing research continues to explore potential causes.

Symptoms of Pulmonary Sarcoidosis
Many people with pulmonary sarcoidosis experience no symptoms and may not even know they have the disease. When symptoms do occur, they vary widely depending on the organs affected. Pulmonary sarcoidosis can reduce lung capacity and cause lung stiffness, leading to:

Lung-related symptoms:

Shortness of breath (worsening with activity)
Persistent dry cough
Chest pain
Wheezing

Symptoms affecting other parts of the body:

Extreme fatigue
Fever
Eye inflammation (pain, burning, blurred vision, light sensitivity)
Night sweats
Joint and bone pain
Skin changes (rashes, lumps, discoloration on the face, arms, or shins)
Swollen lymph nodes
Unintentional weight loss

Since these symptoms overlap with many other conditions, seeing a healthcare provider for a proper diagnosis is crucial.

How is Pulmonary Sarcoidosis Diagnosed?
Diagnosing pulmonary sarcoidosis requires a thorough medical history, physical examination, and a series of diagnostic tests to rule out other lung diseases. Common tests include:

Chest X-ray – Assesses lung structure and detects granulomas or enlarged lymph nodes.
CT Scan – Provides detailed images of lung tissues and disease progression.
Pulmonary Function Tests (PFTs) – Measures lung capacity and airflow.
Blood Tests – Evaluates oxygen levels, organ function, and inflammation markers.
Bronchoscopy – Uses a thin tube with a camera to examine lung airways; allows for tissue biopsy and bronchoalveolar lavage (washing cells from the lungs for analysis).
Lung Biopsy – Collects lung tissue samples to confirm the presence of granulomas.

How is Pulmonary Sarcoidosis Treated?
Treatment focuses on controlling symptoms and preserving organ function. Some cases improve without treatment, while others require medical intervention. Treatment options include:

Corticosteroids (e.g., prednisone) – First-line therapy to reduce inflammation.
Immunosuppressive Medications (e.g., methotrexate, infliximab) – Used when steroids alone are not effective or cause significant side effects.
Pulmonary Rehabilitation – Includes education, exercise, and support to improve lung function and quality of life.
Oxygen Therapy – For severe cases with significant lung impairment.
Lung Transplant – A last-resort option for life-threatening, advanced disease.

Since different treatments work for different people, a personalized approach is essential.

Key Takeaways About Pulmonary Sarcoidosis

Sarcoidosis is an inflammatory disease that most commonly affects the lungs and lymph nodes but can involve any organ.
Pulmonary sarcoidosis causes small inflammatory lumps (granulomas) that impact lung function.
The cause remains unknown, but genetics and environmental triggers are suspected.
Symptoms include shortness of breath, persistent dry cough, chest pain, and wheezing. Other symptoms may affect the skin, eyes, joints, and immune system.
Treatment is not always necessary, but when needed, steroids and immunosuppressants help manage inflammation and symptoms.
Severe cases may require oxygen therapy or, in rare cases, a lung transplant.

Next Steps for Patients
To make the most of your healthcare visits:

Know the purpose of your appointment and what you want to discuss.
Write down questions in advance.
Bring a companion to help remember key details.
Take notes on diagnoses, treatments, and instructions.
Understand your medications—why they’re prescribed, how they work, and potential side effects.
Ask about alternatives and potential outcomes without treatment.
Know how to reach your healthcare team for urgent concerns outside office hours.

Cardiac Sarcoidosis: A Heart-Related Manifestation of Sarcoidosis

Sarcoidosis-Associated Pulmonary Hypertension (SAPH)

What is SAPH?
Sarcoidosis-associated pulmonary hypertension (SAPH) is high blood pressure in the lungs caused by inflammation, lung scarring, or heart involvement in sarcoidosis. It makes it harder for the heart to pump blood through the lungs, leading to serious complications.

Symptoms of SAPH

Shortness of breath (especially with activity)
Fatigue
Chest pain or palpitations
Fainting (syncope)
Swelling in the legs (fluid retention)

Why is SAPH Serious?
SAPH can cause right heart failure, reduced oxygen levels, and increased risk of death if not treated.
How is SAPH Diagnosed?

Echocardiogram (heart ultrasound) – Screens for pulmonary hypertension.
Right Heart Catheterization (RHC) – Confirms high lung pressure and is the gold standard test.
Pulmonary Function Tests & 6-Minute Walk Test – Assess lung function and oxygen levels.
CT Scan or V/Q Scan – Checks for lung scarring or blood clots.

How is SAPH Treated?
Treatment depends on the cause of SAPH in each patient. Options include:

Medications
Steroids & immunosuppressants (for inflammation)
Pulmonary hypertension (PH) medications (for lung blood vessels)
Oxygen therapy (if oxygen levels are low)
Diuretics (to reduce swelling and fluid buildup)
CPAP therapy (for sleep apnea, which can worsen PH)
Blood thinners (if clots are present)
Lung Transplant (for severe cases)

Key Takeaways

SAPH is serious but treatable if detected early.
If you have sarcoidosis and unexplained shortness of breath, ask your doctor about SAPH.
Proper diagnosis and personalized treatment can improve symptoms and quality of life.

Neurosarcoidosis: Sarcoidosis of The Brain, Spinal-cord and the Nerves

What is Neurosarcoidosis?
Neurosarcoidosis is a chronic inflammatory disease that affects the central nervous system (CNS), including the brain, spinal cord, and optic nerve. This condition occurs when sarcoidosis-related inflammation damages these areas, leading to potential destruction of the myelin—the protective coating around nerve fibers (axons). As a result, nerve signal transmission is disrupted, causing loss of function in various parts of the body.

The disease most commonly affects the cranial and facial nerves, the hypothalamus, and the pituitary gland, leading to a wide range of neurological symptoms.

Symptoms of Neurosarcoidosis
The symptoms of neurosarcoidosis depend on the areas affected and often resemble other neurological conditions, such as multiple sclerosis (MS).

If the Pituitary Gland is Affected

Irregular menstrual cycles
Fatigue
Excessive thirst
Frequent urination

If the Brain or Cranial Nerves are Affected

Confusion or disorientation
Hearing loss
Dementia or delirium
Dizziness, vertigo, or movement disturbances
Vision problems, including double vision
Facial palsy (muscle weakness or drooping)
Headaches
Loss of smell or taste (or abnormal taste perception)
Psychiatric symptoms (e.g., mood disturbances, anxiety, or depression)
Seizures
Speech difficulties

If Peripheral Nerves are Affected

Muscle weakness
Numbness or tingling
Loss of movement or coordination

Causes and Risk Factors
The exact cause of neurosarcoidosis remains unknown, but it is thought to involve a combination of immune system dysfunction, genetic predisposition, and environmental triggers.

Risk factors include:

Age 20 to 40 years old
Swedish and African-American ancestry
A history of sarcoidosis, which increases the likelihood of developing neurosarcoidosis

Diagnosis of Neurosarcoidosis
Neurosarcoidosis can be difficult to diagnose because its symptoms mimic other neurological disorders such as diabetes insipidus, meningitis, optic neuritis, hypopituitarism, and certain brain tumors. A history of sarcoidosis along with neurological symptoms raises suspicion of neurosarcoidosis.

Diagnostic tests may include:

MRI (Magnetic Resonance Imaging) – Scans the brain and spinal cord for inflammation and nerve damage.
Lumbar Puncture (Spinal Tap) – Examines cerebrospinal fluid for signs of inflammation.
Chest X-ray – Checks for sarcoidosis-related lung involvement.
Nerve Biopsy – Confirms the presence of granulomas in affected nerves.

Treatment of Neurosarcoidosis
There is no cure for neurosarcoidosis, but treatment focuses on managing symptoms and preventing disease progression. Treatment is generally reserved for patients with severe or worsening symptoms.

Common treatments include:

Corticosteroids (e.g., prednisone) – First-line treatment to reduce inflammation and shorten symptom duration.
Immunosuppressive Medications (e.g., methotrexate, azathioprine, infliximab) – Used when steroids alone are ineffective or cause significant side effects.
Physical and Occupational Therapy – Helps patients adapt to daily challenges and maintain mobility.
Assistive Devices (e.g., braces, canes) – Provides additional support for movement difficulties.
Pain Management – May include medications or therapy to improve quality of life.

Choosing the right treatment requires collaboration with a neurologist experienced in treating neurosarcoidosis.

Key Takeaways:
Neurosarcoidosis is a rare but serious form of sarcoidosis that requires early diagnosis and careful management. While it can significantly impact daily life, personalized treatment plans and supportive care can help improve symptoms and maintain function. Regular follow-ups with a specialist are essential to monitor disease progression and adjust treatments as needed.

Hepatic Sarcoidosis

Sarcoidosis is a multisystem inflammatory disease characterized by the presence of non-caseating granulomas in affected organs. While pulmonary sarcoidosis is the most common form, hepatic involvement occurs in up to 70% of patients.

Symptoms and Clinical Presentation
Most patients with hepatic sarcoidosis are asymptomatic, and liver involvement is often discovered incidentally through elevated liver enzymes on routine blood tests. However, when symptoms do occur, they may include:

Right upper quadrant pain (discomfort in the upper right side of the abdomen)
Fatigue
Pruritus (itching)
Jaundice (yellowing of the skin and eyes)

Long-standing hepatic sarcoidosis can lead to serious complications, including:

Portal hypertension (increased pressure in the liver’s blood vessels)
Cirrhosis (scarring of the liver)

Diagnosis of Hepatic Sarcoidosis
A liver biopsy is typically required to confirm hepatic sarcoidosis, as it helps differentiate the disease from other autoimmune and granulomatous liver conditions, such as primary biliary cholangitis, tuberculosis, or fungal infections.

Treatment Options
Not all cases of hepatic sarcoidosis require treatment. Management depends on the severity of symptoms and liver dysfunction.

First-line treatment:
Corticosteroids (e.g., prednisone) – Reduce inflammation and control symptoms.
Ursodeoxycholic acid (UDCA) – Helps improve liver function and reduce cholestatic symptoms (such as jaundice and itching).
Second-line treatment (for patients who do not respond to steroids or UDCA):
Immunosuppressants (e.g., methotrexate, azathioprine, or infliximab)
Severe cases:
In rare instances, liver transplantation may be necessary for end-stage liver disease due to hepatic sarcoidosis.

Key Takeaways

Hepatic sarcoidosis is common but often asymptomatic, with many cases discovered through elevated liver enzymes.
Symptoms may include abdominal pain, fatigue, itching, and jaundice.
Complications such as portal hypertension and cirrhosis can occur in long-standing disease.
Liver biopsy is essential for diagnosis and differentiation from other liver conditions.
Treatment is not always necessary, but corticosteroids and ursodeoxycholic acid are first-line options for symptomatic cases.
In severe cases, immunosuppressants or liver transplantation may be required.

Regular monitoring of liver function and individualized treatment plans are essential for managing hepatic sarcoidosis effectively.

Hypercalcemia, Hypercalciuria, and Kidney Disease in Sarcoidosis

Sarcoidosis is a multisystem granulomatous disease that can significantly impact calcium metabolism and kidney function. While the disease primarily affects the lungs and lymph nodes, it can also lead to hypercalcemia (elevated blood calcium levels), hypercalciuria (excess calcium in the urine), and kidney disease, which may result in complications such as nephrolithiasis (kidney stones) and nephrocalcinosis (calcium deposits in the kidneys).

Hypercalcemia in Sarcoidosis
Hypercalcemia in sarcoidosis occurs due to excessive production of 1,25-dihydroxy vitamin D (calcitriol) by activated macrophages within granulomas. This leads to increased calcium absorption in the intestines and results in high blood calcium levels. Prevalence:10–17% of sarcoidosis patients develop hypercalcemia.

Symptoms of Hypercalcemia: Fatigue and muscle weakness, abdominal pain and constipation, kidney stones (nephrolithiasis), cognitive impairment or confusion, or excessive thirst and frequent urination.

Hypercalciuria in Sarcoidosis
Hypercalciuria, or excessive calcium excretion in urine, can occur independently or alongside hypercalcemia. It is a strong risk factor for kidney stones and kidney damage.

Complications of Hypercalciuria:

Nephrolithiasis (kidney stones)
Obstructive uropathy (urinary tract blockage due to stones)
Nephrocalcinosis (calcium deposits in kidney tissue)

Kidney Disease in Sarcoidosis
Sarcoidosis-related kidney disease primarily results from calcium metabolism disorders and granulomatous inflammation in the kidneys.

Nephrolithiasis (Kidney Stones)

Occurs in 10–14% of sarcoidosis patients.
Renal colic (severe pain due to kidney stones) may be the first sign of sarcoidosis.
Some patients are diagnosed with sarcoidosis only after recurrent kidney stones.

Nephrocalcinosis (Calcium deposits in kidney tissue)

Chronic hypercalciuria can lead to calcium deposits in kidney tissue.
Occurs in <5% of sarcoidosis patients but is more common in those with kidney failure.
Can lead to irreversible kidney damage if not treated.

Granulomatous Interstitial Nephritis

The most common kidney lesion in sarcoidosis.
May present with sterile leukocyturia, hematuria, or proteinuria.
Occurs in up to 23%.

Diagnosis and Management

Diagnostic Tests:

Blood tests (to check calcium levels, kidney function, and vitamin D metabolism).
24-hour urine test (to measure calcium excretion and assess hypercalciuria).
Imaging (Ultrasound, CT, or MRI) (to detect kidney stones or nephrocalcinosis).
Kidney biopsy (for suspected granulomatous nephritis).

Treatment Approaches

Hypercalcemia & Hypercalciuria:

Corticosteroids (first-line treatment to suppress granuloma activity and vitamin D production).
Hydration (to enhance calcium excretion).
Dietary modifications (reducing calcium, vitamin D, and oxalate intake).
Avoiding excessive sunlight exposure (to limit vitamin D production).
Alternative medications:
Hydroxychloroquine or ketoconazole (to reduce vitamin D activation).
Bisphosphonates (to lower calcium levels in severe cases).

Kidney Disease:

Corticosteroids and immunosuppressants (to reduce granulomatous inflammation).
Thiazide diuretics (to manage hypercalciuria and prevent kidney stones).
Dialysis or kidney transplantation (for end-stage renal disease in severe cases).

Key Takeaways

Hypercalcemia and hypercalciuria are common in sarcoidosis and can lead to kidney complications.
Kidney stones and nephrocalcinosis are major concerns due to chronic calcium imbalance.
Granulomatous inflammation in the kidneys can mimic other kidney diseases, requiring careful diagnosis.
Early treatment with corticosteroids and hydration can prevent irreversible kidney damage.
Patients with sarcoidosis should undergo regular kidney function monitoring to detect complications early.

Managing calcium metabolism abnormalities in sarcoidosis is crucial to prevent long-term kidney damage and improve patient outcomes.