From the Guidelines
Sarcoidosis is a chronic inflammatory disease characterized by the formation of small clumps of inflammatory cells called granulomas in various organs throughout the body, most commonly affecting the lungs and lymph nodes, but can also involve the skin, eyes, heart, liver, and other organs. The exact cause of sarcoidosis remains unknown, though it likely results from an abnormal immune response to an environmental trigger in genetically susceptible individuals 1. Symptoms vary widely depending on which organs are affected, ranging from no symptoms at all to fatigue, persistent cough, shortness of breath, skin rashes, eye inflammation, or heart rhythm abnormalities. Many cases resolve spontaneously without treatment, but when treatment is needed, corticosteroids like prednisone are the primary therapy, with other medications such as methotrexate, hydroxychloroquine, or TNF inhibitors used for more severe or persistent cases 1.
Key Features of Sarcoidosis
- Formation of noncaseating granulomas in various organs
- Unknown exact cause, but likely due to abnormal immune response to environmental trigger
- Symptoms vary depending on affected organs
- Spontaneous resolution in some cases, while others require treatment
Treatment Approach
- Corticosteroids like prednisone are the primary therapy for sarcoidosis 1
- Other medications like methotrexate, hydroxychloroquine, or TNF inhibitors may be used for more severe or persistent cases
- Treatment decisions based on affected organs and severity of inflammation
Prognosis and Monitoring
- Disease course is unpredictable, with some cases resolving spontaneously and others progressing to chronic or progressive disease
- Regular monitoring is important to assess disease progression and response to treatment
- Treatment should focus on preventing progression to irreversible disease and improving quality of life 1
From the Research
Definition of Sarcoidosis
- Sarcoidosis is a systemic disease of unknown etiology characterized by the presence of noncaseating granulomas in any organ, most commonly the lungs and intrathoracic lymph nodes 2.
- It is a systemic condition characterized by formation of granulomas that can involve many organ systems, with the lungs and intrathoracic lymph nodes involved in more than 90% of cases 3.
- Sarcoidosis is a systemic disease, where for the abnormal localized collections of chronic inflammatory cells, the granuloma is cardinal, which may result in the formation of nodule(s) in the tissue of any organ of the body, with lungs and lymph nodes involvement being the most common 4.
Clinical Presentation
- A diagnosis of sarcoidosis should be suspected in any young or middle-aged adult presenting with unexplained cough, shortness of breath, or constitutional symptoms, especially among blacks or Scandinavians 2.
- The presentation of pulmonary sarcoidosis is nonspecific, and less than half of patients initially have respiratory symptoms 3.
- Sarcoidosis can involve the cardiac, ocular, hepatic, dermatologic, and central nervous systems 3.
Diagnosis
- Diagnosis relies on three criteria: (1) a compatible clinical and radiologic presentation, (2) pathologic evidence of noncaseating granulomas, and (3) exclusion of other diseases with similar findings, such as infections or malignancy 2.
- Typical granulomatous findings on lymph node biopsy can increase confidence in sarcoidosis diagnosis after other conditions are excluded 3.
- There are three syndromes which, if present, are diagnostic of sarcoidosis: Lofgren syndrome, Heerfordt syndrome, and lupus pernio 3.
Treatment
- The optimal treatment for sarcoidosis remains unclear, but corticosteroid therapy has been the mainstay of therapy for those with significantly symptomatic or progressive pulmonary disease or serious extrapulmonary disease 2.
- Systemic corticosteroids are first-line treatment, and second-line treatment with methotrexate or hydroxychloroquine is used if steroids are ineffective or to enable steroid tapering 3.
- Refractory disease should be comanaged with a sarcoidosis subspecialist 3.