What is the diagnosis and treatment for Sarcoidosis?

From the Guidelines

Sarcoidosis patients with cardiac involvement should be treated with glucocorticoids, with or without other immunosuppressives, to improve functional cardiac abnormalities, including heart block, dysrhythmias, or cardiomyopathy. This recommendation is based on the European Respiratory Journal's clinical practice guidelines on treatment of sarcoidosis 1. The guidelines suggest that glucocorticoids, with or without other immunosuppressives, should be used in patients with evidence of functional cardiac abnormalities, including heart block, dysrhythmias, or cardiomyopathy, due to cardiac sarcoidosis.

Diagnosis and Treatment

The diagnosis of cardiac sarcoidosis involves the use of echocardiography, Holter monitoring, and advanced imaging techniques such as cardiac MRI with late gadolinium enhancement 1. Cardiac MRI is considered the imaging study of choice in patients suspected of having cardiac sarcoidosis, as it can identify inflammation and fibrotic changes in the myocardium.

Treatment Approach

The treatment approach for sarcoidosis depends on the severity of symptoms and organ involvement. For mild cases with minimal symptoms, a watch-and-wait approach may be appropriate. For symptomatic patients, corticosteroids are the first-line treatment, typically starting with prednisone 20-40mg daily for 1-3 months, followed by a gradual taper over 6-12 months 1. For patients who cannot tolerate steroids or have refractory disease, second-line options include methotrexate, hydroxychloroquine, or TNF-alpha inhibitors like infliximab.

Key Considerations

• Cardiac sarcoidosis can lead to significant morbidity and mortality if left untreated or undertreated.
• Glucocorticoids, with or without other immunosuppressives, are the mainstay of treatment for cardiac sarcoidosis.
• Regular monitoring of pulmonary function tests, chest imaging, and calcium levels is essential to assess disease progression and potential side effects of treatment.
• The exact cause of sarcoidosis remains unknown, but it is likely due to an exaggerated immune response to an unidentified antigen in genetically susceptible individuals.

Recommendations

• Glucocorticoids, with or without other immunosuppressives, should be used in patients with evidence of functional cardiac abnormalities, including heart block, dysrhythmias, or cardiomyopathy, due to cardiac sarcoidosis 1.
• Methotrexate, hydroxychloroquine, or TNF-alpha inhibitors like infliximab may be considered as second-line options for patients who cannot tolerate steroids or have refractory disease 1.
• Regular monitoring of disease progression and potential side effects of treatment is essential to optimize patient outcomes.

From the FDA Drug Label

Symptomatic sarcoidosis

• Sarcoidosis is listed as one of the conditions for which prednisone is indicated.
• The FDA drug label indicates that prednisone is used for symptomatic sarcoidosis 2.
• This suggests that prednisone can be used to manage symptoms of sarcoidosis.

From the Research

Definition and Diagnosis 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 3.
• 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 3.
• 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 3.

Treatment of Sarcoidosis

• Corticosteroids are the mainstay of therapy for those with significantly symptomatic or progressive pulmonary disease or serious extrapulmonary disease 3, 4.
• Second-line therapy includes cytotoxic agents, such as methotrexate, azathioprine, leflunomide, and mycophenolate, which have all been reported as effective in sarcoidosis 5, 6.
• Biologics and other agents, such as monoclonal antibodies directed against tumor necrosis factor, are third-line therapy and have been shown to be particularly effective for advanced disease 5.
• Refractory or complex cases may require immunosuppressive therapy, and transplantation can be considered for advanced and end-stage disease depending on organ involvement 3, 7.

Prognosis and Complications

• Prognosis is variable and depends on epidemiologic factors, mode of onset, initial clinical course, and specific organ involvement 3.
• Despite aggressive treatment, some patients may develop life-threatening pulmonary, cardiac, or neurologic complications from severe, progressive disease 3.
• End-stage disease may ultimately require lung or heart transplantation for eligible patients 3, 7.