Typical Presentations of Sarcoidosis
Sarcoidosis typically presents as a multisystem disease with pulmonary manifestations dominating in over 90% of cases, often with bilateral hilar lymphadenopathy on chest imaging, and may include constitutional symptoms such as cough, dyspnea, fatigue, and malaise. 1, 2
Common Clinical Manifestations
Pulmonary Manifestations (>90% of cases)
- Cough (dry or with scant mucoid sputum) in 40-80% of patients 1
- Dyspnea and chest pain 1
- Bilateral hilar lymphadenopathy (key radiographic finding) 2
- Perilymphatic nodules on chest CT, upper lobe or diffuse infiltrates 2
- Asymptomatic in approximately 50% of cases diagnosed by radiographic screening 1
Cutaneous Manifestations
- Lupus pernio (violaceous lesions on nose, cheeks, ears) - considered diagnostic 1, 2
- Erythema nodosum (especially in Löfgren's syndrome) 2
- Maculopapular or violaceous skin lesions 2
- Subcutaneous nodules 2
Ocular Manifestations
- Uveitis (anterior, posterior, or panuveitis) 2
- Optic neuritis 2
- Scleritis, retinitis 2
- Lacrimal gland swelling 2
Lymphatic System
Cardiac Involvement
- Atrioventricular block 2
- Ventricular tachycardia 2
- Cardiomyopathy 2
- Sudden cardiac death (particularly common in Japanese patients) 1
Neurological Manifestations
- Cranial nerve palsies (especially facial nerve - Bell's palsy) 2
- CNS lesions with gadolinium enhancement on MRI 2
Metabolic/Endocrine Abnormalities
- Hypercalcemia (10-13% of patients) 1
- Hypercalciuria (approximately 30% of patients) 1
- Abnormal vitamin D metabolism 2
Diagnostic Syndromes
Three clinical presentations are considered highly specific for sarcoidosis and may not require histological confirmation 1, 3:
Löfgren's syndrome: Bilateral hilar adenopathy with erythema nodosum and/or periarticular arthritis - typically has good prognosis 1, 2
Heerfordt's syndrome: Uveoparotid fever with facial nerve palsy 1, 2
Lupus pernio: Characteristic violaceous skin lesions on face 1, 2
Laboratory Findings
- Elevated angiotensin-converting enzyme (ACE) levels in 60-83% of patients 1
- Elevated alkaline phosphatase 1
- BAL lymphocytosis or elevated CD4:CD8 ratio 2
Epidemiological Patterns
- More common in young and middle-aged adults (peaks in third-fourth decades) 1
- Second peak in women between 45-65 years 1
- Higher prevalence in African Americans (35.5/100,000) compared to whites (10.9/100,000) in the US 1
- More common in northern Europe (Sweden, Iceland) 1
- Twice as common in women than men 1
- More common in non-smokers 1
Clinical Course
- Spontaneous remission occurs in nearly two-thirds of patients 4
- Chronic course in up to 30% of patients 4
- Mortality rate of 1-4% attributed directly to sarcoidosis 4
- Higher mortality in African American women (2.4 times higher than matched cohorts) 1
Diagnostic Approach
Diagnosis relies on three criteria 1, 5:
- Compatible clinical and radiologic presentation
- Pathologic evidence of noncaseating granulomas
- Exclusion of other diseases with similar findings (infections, malignancy, berylliosis)
Clinical Pitfalls and Caveats
- Many patients are asymptomatic with incidental findings on chest imaging 5
- Initial presentations can vary widely, making early diagnosis challenging 5
- No single reliable diagnostic test exists 5
- Always exclude infections (particularly tuberculosis) and malignancy before confirming diagnosis 3
- Berylliosis can present with identical histopathological features and requires blood lymphocyte proliferation test for differentiation 1
- Consider sarcoidosis in any young or middle-aged adult with unexplained cough, shortness of breath, or constitutional symptoms, especially in Black or Scandinavian populations 5
Understanding these diverse presentations is crucial for early recognition and appropriate management of sarcoidosis, as treatment decisions should be based on the extent of organ involvement and disease severity.