Inflammatory disorder of unknown cause that is characterized by noncaseating granuloma formation in affected organs, most often in the lungs.
Epidemiology
Incidence:
Adverse prognostic factors:
Age of onset > 40 years
Black race
Cardiac involvement
Chronic hypercalcemia
Chronic uveitis
Cystic bone lesions
Lupus pernio
Nasal mucosa involvement
Nephrocalcinosis
Neurosarcoidosis
Progressive pulmonary fibrosis
Survival rate:
Aetiology
Genetic risk factors:
Family history
Environmental risk factors:
Mouldy environments
Occupational exposure to insecticides and agricultural employment
Iron foundry workers (exposure to silica dust)
Firefighters
Smoking: Decreased risk of sarcoidosis
Pathophysiology
Pathological hallmark of sarcoidosis is the presence of compact, epithelioid, non-necrotizing granulomas with varying degrees of lymphocytic inflammation.
Immunological features of granuloma formation:
Granuloma resolution/progression:
Gross pathology:
Clinical features
Pulmonary sarcoidosis (89–99%):
Cough, dyspnoea, wheezing and stridor
Cutaneous sarcoidosis (16–32%):
Papules, nodules, plaques and infiltrated scars and tattoos
Erythema nodosum: Skin inflammation located in part of fatty layer of skin resulting in reddish, painful, tender lumps
M/C anterior aspect of legs below knees
Lupus pernio: Skin lesions on face resembling lupus. (PATHOGNOMIC)
Chronic raised indurated (hardened) lesion of the skin, often purplish in color
Seen on the nose, ears, cheeks, lips, and forehead
Ophthalmic sarcoidosis (5–23%):
Anterior uveitis (M/C ophthalmic manifestation)
Painful and/or red eye and vision loss
Hepatic sarcoidosis (12–20%):
Abdominal pain and elevated liver functions
Lymph nodes (13–15%):
Peripheral lymphadenopathy
Spleen (5-10%):
Abdominal pain
Neurosarcoidosis (3–9%):
Facial palsy, fatigue (for example, pituitary insufficiency), gait disturbance, headache, hearing loss, numbness or paraesthesia, seizure, trigeminal neuralgia, vertigo, visual loss and weakness and/or paresis
Cardiac sarcoidosis (2-5%):
Conductance disturbances, arrhythmias, dyspnoea, fatigue (for example, cardiomyopathy) and syncope
Special manifestations:
Löfgren syndrome:
Acute form presenting with triad of ankle arthritis, mediastinal lymphadenopathy, and erythema nodosum.
Good prognosis > 90% cases resolve within 2 years
Heerfordt-Waldenström syndrome:
Extremely rare form characterized by uveitis, enlargement of the parotid and submaxillary salivary glands and paresis of the cranial nerves (especially the 7th nerve)
Darier-Roussy sarcoid:
Deep-seated nodules on the trunk and extremities.
Complications
Progressive pulmonary fibrosis
Congestive heart disease
Sudden cardiac death
Diagnosis
Skin tests:
Mantoux test (exclude TB)
Kveim test, Nickerson-Kveim or Kveim-Siltzbach test
Skin test used to detect sarcoidosis, where part of a spleen from a patient with known sarcoidosis is injected into the skin of a patient suspected to have the disease.
Positive: Non-caseating granulomas found (4–6 weeks later)
False-negative: If the patient has been on treatment (e.g. glucocorticoids)
Blood panel:
↑ ESR (non-specific)
Leukopenia
Hypercalcemia (10% cases)
Increased production of 1,25-dihydroxy vitamin D by the granuloma itself
Pulmonary function:
Pulmonary function tests (PFT): Restrictive pattern
DLCO: Reduced CO2 diffusion
Bronchoalveolar lavage (BAL):
↑ CD4+/CD8+ ratio
↑ Serum ACE levels
X-ray (Best initial test):
Stage 0: Normal radiograph
Stage I: Bilateral hilar lymphadenopathy
Stage II: Bilateral hilar adenopathy and parenchymal infiltrates
Stage III: Parenchymal infiltrates alone
Stage IV: Pulmonary fibrosis
High-resolution CT (HRCT) scan and cardiac MRI:
Chest: Extensive hilar and mediastinal adenopathy
Transbronchial biopsy (M/accurate) or USG-guided transbronchial needle aspiration (EBUS-TNA) of mediastinal lymph nodes: