Sarcoidosis

Sarcoidosis is an inflammatory disorder in which lumps of inflammatory cells called granulomata are formed in multiple body organs, predominantly in the lungs and lymph nodes. The cause of the disease is unknown, and the symptoms depend on the organ involved. For example, lungs involvement result in cough, wheezing, breathing difficulties, etc. the other areas affected are the skin, eyes, liver, heart, spleen, brain, etc.

Some people show no or mild symptoms. The disease heals on its own. No specific treatment is available for sarcoidosis. Only supportive treatment is given. Very few people have severe complications. In some people with severe disease, anti-inflammatory medications are given. 

The exact cause of the disease is unknown. It is thought to result from the body’s abnormal or exaggerated immune reactions against some triggers like infection or chemicals in genetically susceptible people. Some people have a family history of sarcoidosis.

Having the following attributes may increase your chances of having sarcoidosis;

·         Family history: If any of your family members have suffered from sarcoidosis, your risk of having the disorder may increase.

·         Age: It usually affects people between the ages of 20-50 years.

·         Race: African-Americans are affected more by sarcoidosis.

1.9 million people got affected by pulmonary sarcoidosis in 2015 globally, and 122,000 deaths were recorded. The incidence of sarcoidosis is around 5-40 cases per one million population in the USA. It is more prevalent in African-Americans. It affects the age groups of 20-50, and women are more likely to be affected than men.

Signs and symptoms of sarcoidosis depend on the organs involved. The patients can present like;

·         Around 5% of patients are asymptomatic. Sarcoidosis is detected accidentally on chest imaging

·         45% of patients have systemic symptoms like fever, anorexia, weight loss, joint pain.

·         50% of patients have lung involvement. They present with symptoms of cough, shortness of breath, particularly on exertion, chest pain, and rarely hemoptysis (blood in cough)

·         Löfgren syndrome: development of fever, polyarthralgia (pain in multiple joints), and lymphadenopathy at the hila of the lungs on both sides.

·         Skin involvement may present as erythema nodosum which are red tender lumps, cutaneous lesions called lupus pernio, purple rash on cheeks and nose, or rarely maculopapular plaques.

·         In eyes, conjunctiva and uvea can be involved and have plaques or granulomas, which may lead to blindness.

·         Bones and joints may be involved

·         Heart involvement may cause heart failure, heart block, or sudden death

·         Meningitis may occur

·         Rarely Cranial nerves involvement may result in nerve palsies

·         Rarely may it involve the hypothalamus and pituitary gland resulting in hormonal dysfunctions.

Sarcoidosis is diagnosed by excluding other conditions as there is no specific test marker for sarcoidosis. The doctor will take the complete history asking questions about the onset of your symptoms, involvement of other body parts, family history, etc. They will examine you for the signs with particular emphasis on the lungs, lymph nodes, skin.

The diagnosis is supported by blood tests and imaging studies.

·         The blood tests may exclude other diseases. Angiotensin-converting enzyme (ACE enzyme) is usually found at increased levels in sarcoidosis. Increased calcium levels are also found.

·         Urine tests and blood urea nitrogen creatinine may show the functions and condition of the kidneys.

·         Imaging studies: Chest X-Ray gives valuable information and is central to diagnosis. A High-resolution CT scan provides a clearer picture in cases of confusion. May also show interstitial fibrosis.

·         ECG of the heart will show the degree of heart involvement

·         PET scan to check for widespread disease.

·         A definitive diagnosis is usually made based on the biopsy result that shows non-caseating granulomas which test negative for the presence of fungus or mycobacteria. A tissue for biopsy is usually taken from the hilar lymph nodes by performing bronchoscopy. Tissue for biopsy can also be taken from the skin lesions or the other regions with granulomas.

Sarcoidosis is a diagnosis of exclusion. Disorders having similar symptoms need to be excluded to make an efficient diagnosis and treatment.

·         Tuberculosis

·         Lymphoma

·         Rheumatoid nodules

·         Metastatic disease

·         Septic emboli

·         Granulomatosis with polyangitis

·         Varicella infection,

·         Atypical infections, for example, Mycobacterium avium complex, Cryptococcus, cytomegalovirus, etc.

Management depends on the severity of the disease and the extent of organs involvement and dysfunction.  Asymptomatic patients do not need any treatment. Medications used for symptomatic patients include;

·         Anti-inflammatory medicines; ibuprofen

·          Corticosteroids; topical, inhaled, oral

·         Immunomodulators: methotrexate, choloroquine, cyclophosphamide, azathioprine, infliximab, etc.

·         Supportive therapy may include improving physical activity to combat fatigue and enhance muscle activity and strength.

·         A dysfunctional heart may need a cardiac pacemaker

·         Pulmonary exercises to improve lung functions

·         Fatal cases with severely affected lungs may need an organ transplant. 

Sarcoidosis causes mild illness in most people, and they recover without treatment in about two years. In very few people, sarcoidosis can cause a long-term illness. It can also cause some complications like scarring of the lungs called pulmonary fibrosis, cataract and blindness in the eyes, kidney stones and kidney failure, heart block, nerve palsies, etc. Advanced pulmonary involvement with or without pulmonary hypertension and the involvement of organs other than lungs, particularly the heart or brain, is associated with poor outcomes. For untreated people, the mortality rate is less than 5%. Death usually is a result of pulmonary complications, respiratory failure, or heart failure.

Sarcoidosis is an incurable disease. To cope with the disease, you need to make some lifestyle changes like;

·         Eat a healthy, well-balanced diet including fruits, vegetables, and antioxidants to improve your overall health

·         Perform some form of exercise or brisk walking regularly to improve activity

·         Avoid stress, maintain good sleep hygiene, avoid excessive alcohol or smoking

·         Be regular in your follow-ups and checkups with your health care provider. Take your medications regularly.

·         Join a sarcoidosis support group if your symptoms are bothering your mental health and other activities.

Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 28, 2023.

References

Learn About Sarcoidosis | American Lung Association

https://www.lung.org/lung-health-diseases/lung-disease-lookup/sarcoidosis/learn-about-sarcoidosis

Diagnosis and Treatment of Pulmonary Sarcoidosis: A Review | Pulmonary Medicine | JAMA | JAMA Network

https://jamanetwork.com/journals/jama/article-abstract/2789537