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Phenotype Submission - Sarcoidosis

Cohort Definition Name: “Sarcoidosis”
Contributor name: Joel N. Swerdel
Contributor OrcId: 0000-0001-9491-2737
Logic Description: First occurrence of Sarcoidosis.
Recommended study application: outcome, indication
Assertion statement: This cohort definition was executed on at least one real person-level observational health data source and resulted in a cohort with at least 1 person.
Submitted cohort definition:
sarcoidoisis.txt (7.5 KB)

Target Clinical Description

Sarcoidosis is a chronic inflammatory disease that can affect multiple organs, but most commonly involves the lungs and lymph nodes. The exact cause of sarcoidosis is unknown, but it is believed to result from an abnormal immune response. The characteristic feature of sarcoidosis is the formation of granulomas, which are small clusters of immune cells, in various organs. Sarcoidosis can have a variable clinical course, with some individuals experiencing mild symptoms or spontaneous resolution, while others may have persistent or progressive disease.

Presentation for sarcoidosis:

  • Fatigue

  • Shortness of breath and cough

  • Chest pain

  • Skin rashes or lesions

  • Joint pain and swelling

  • Eye redness, pain, or vision disturbances

  • Enlarged lymph nodes, especially in the neck, armpits, or groin

  • Fever and night sweats

  • Weight loss

Assessment for sarcoidosis:

  • Medical history and physical examination to assess symptoms, identify organ involvement, and evaluate the extent of disease.

  • Chest X-ray or CT scan to evaluate lung involvement, assess the presence of nodules or infiltrates, and determine the stage of the disease.

  • Pulmonary function tests to assess lung function and detect any restriction or obstruction.

  • Biopsy of affected organs, such as the lungs, skin, or lymph nodes, to confirm the diagnosis and examine the granulomas.

  • Blood tests to check for elevated levels of certain markers, such as angiotensin-converting enzyme (ACE) and calcium, which may be associated with sarcoidosis.

Differential diagnoses for sarcoidosis:

  • Tuberculosis: Sarcoidosis may mimic tuberculosis, as both conditions can present with granulomas in the lungs or lymph nodes.

  • Lymphoma: Lymphomas can cause enlarged lymph nodes and may need to be ruled out in the differential diagnosis.

  • Rheumatoid arthritis: Joint pain and swelling can occur in both sarcoidosis and rheumatoid arthritis.

  • Other granulomatous diseases: Conditions like granulomatosis with polyangiitis (Wegener’s granulomatosis) and Crohn’s disease can also involve granuloma formation.

Treatment plan for sarcoidosis:

  • Observation: In some cases, sarcoidosis may resolve on its own without specific treatment. Regular monitoring of symptoms and organ function is important in these situations.

  • Medications: Treatment may be necessary to control symptoms, manage organ involvement, and prevent complications. Commonly used medications include corticosteroids, such as prednisone, which help reduce inflammation, and immunosuppressive drugs, such as methotrexate or azathioprine, for more severe or refractory cases.

  • Symptom management: Specific treatments may be prescribed to alleviate symptoms, such as nonsteroidal anti-inflammatory drugs (NSAIDs) for joint pain or topical creams for skin rashes.

  • Supportive care: Maintaining a healthy lifestyle, including regular exercise, adequate rest, and a balanced diet, is important for overall well-being and managing symptoms associated with sarcoidosis.

  • Pulmonary rehabilitation: For individuals with significant lung involvement, pulmonary rehabilitation programs can help improve exercise tolerance and breathing techniques.

Prognosis for sarcoidosis:

The prognosis of sarcoidosis can vary greatly depending on the extent and severity of organ involvement. In many cases, the disease follows a self-limiting course and resolves spontaneously or with appropriate treatment. However, some individuals may experience chronic or progressive disease, leading to long-term complications and impaired organ function. With close monitoring, proper management, and adherence to treatment plans, most individuals with sarcoidosis can achieve symptom control and maintain a good quality of life. Regular follow-up visits with healthcare providers are essential to monitor disease progression and adjust treatment as needed.

Imported to the OHDSI Phenotype Library. It may be expected to be found with id = 767 in the next release. Thank you ‘Joel Swerdel’,‘Eva-maria Didden’;

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