Diagnosis and Management 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. 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. 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. An early and accurate diagnosis of sarcoidosis remains challenging, because initial presentations may vary, many patients are asymptomatic, and there is no single reliable diagnostic test. Prognosis is variable and depends on epidemiologic factors, mode of onset, initial clinical course, and specific organ involvement. 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. Refractory or complex cases may require immunosuppressive therapy. Despite aggressive treatment, some patients may develop life-threatening pulmonary, cardiac, or neurologic complications from severe, progressive disease. End-stage disease may ultimately require lung or heart transplantation for eligible patients.

Sarcoidosis is a multisystem granulomatous disease of unknown etiology that most often affects the lungs and intrathoracic lymph nodes but can involve any organ of the body (Table 1).1,2 The paucity of randomized controlled trials has led to limited evidence-based data for clinicians caring for patients with sarcoidosis. This article reviews the epidemiology, etiology, clinical presentation, diagnosis, and current evidence on the treatment of pulmonary and extrapulmonary sarcoidosis.

View/Print Table

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingReferences

Consider sarcoidosis in patients with unexplained cough, shortness of breath, or constitutional symptoms, especially in groups with a higher prevalence, such as blacks or Scandinavians.

C

1

Diagnosis of sarcoidosis 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.

C

1

Cardiac or neurologic sarcoidosis can result in irreversible or life-threatening disease and often requires aggressive treatment with high-dose corticosteroids.

C

3942

Treatment is not indicated for patients with asymptomatic stage I or II sarcoidosis because spontaneous resolution is common.

C

1

Treatment with corticosteroids should be considered for patients with significant symptomatic or progressive stage II or III pulmonary disease or serious extrapulmonary disease.

B

1, 47, 48

Patients with refractory or complex cases of sarcoidosis may require additional immunosuppressive therapy.

C

1, 51, 52


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingReferences

Consider sarcoidosis in patients with unexplained cough, shortness of breath, or constitutional symptoms, especially in groups with a higher prevalence, such as blacks or Scandinavians.

C

1

Diagnosis of sarcoidosis 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.

C

1

Cardiac or neurologic sarcoidosis can result in irreversible or life-threatening disease and often requires aggressive treatment with high-dose corticosteroids.

C

3942

Treatment is not indicated for patients with asymptomatic stage I or II sarcoidosis because spontaneous resolution is common.

C

1

Treatment with corticosteroids should be considered for patients with significant symptomatic or progressive stage II or III pulmonary disease or serious extrapulmonary disease.

B

1, 47, 48

Patients with refractory or complex cases of sarcoidosis may require additional immunosuppressive therapy.

C

1, 51, 52


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

View/Print Table

Table 1.

Organ Involvement in Sarcoidosis

Organ systemPrevalence (% of patients)Clinical manifestationsDiagnostic workup

Mediastinal lymph nodes

95 to 98

Hilar and

The Authors

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NATALIA SOTO-GOMEZ, MD, is a senior research fellow in the Division of Pulmonary and Critical Care Medicine at the University of Texas Health Science Center at San Antonio....

JAY I. PETERS, MD, is a professor in the Division of Pulmonary and Critical Care Medicine at the University of Texas Health Science Center at San Antonio.

ANOOP M. NAMBIAR, MD, is an assistant professor in the Division of Pulmonary and Critical Care Medicine at the University of Texas Health Science Center at San Antonio.

Address correspondence to Jay I. Peters, MD, University of Texas Health Science Center, 7704 Floyd Curl, San Antonio, TX 78229 (e-mail: peters@uthscsa.edu). Reprints are not available from the authors.

Author disclosure: No relevant financial affiliations.

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