Diagnosis

Sarcoidosis

An idiopathic, multisystem, noncaseating granulomatous inflammatory disease that usually affects the lungs but may also involve the joints, skin, eyes, heart, and central nervous system.

Also known as: Besnier-Boeck-Schaumann disease, Boeck sarcoid, Darier-Roussy sarcoid and lymphogranulomatosis, Schaumann's disease

Etiology

Cause [3ar]

Unknown etiology
Associations to antigens: beryllium, dust, agents causing asthma
Associations to infections: mycobacteria and propionibacteria
Associations to genetics: MHC (DR alleles)

Pathophysiology

T-cells, B-cells, cytokines and tumor necrosis factor --> cellular immune reaction
Inverted CD4/CD8 ratio --> noncaseating granulomas in organs
Clinical manifestations:
- Lungs: Cough, dyspnea, reduced vital capacity, hilar lymphadenopathy
- Dermatologic: Maculopapulonodular subcutaneous lesions, Erythema nodosum
- Ocular involvement: Uveitis
- Cardiac: Cardiomyopathy, heart failure, conduction defects (arrhythmia)
- Kidney: Renal calculi
- CNS (neurosarcoidosis): Hearing loss, seizure, psychiatry, diabetes insipidus, hyperprolactinemia
- Other: Fever, polyarthralgia, lymphadenopathy

Complications [3ar]

Pulmonary hypertension
End-stage lung disease

Epidemiology

Incidence per 100.000 [sha][c7a][a8a][mn5][n4c][v6v][dth]

Symptoms & findings

Symptoms

Anorexia, Anosmia, Arrhythmia, Arthralgia, Blurred vision, Cardiac arrest, Cough, Dyspnea, Epistaxis, Erythema nodosum, Fatigue, Fever, Hearing loss, Hemoptysis, Lymphadenopathy, Malaise, Nasal congestion, Nasal discharge, Post-nasal drip, Pruritus, Rhinorrhea, Saddle nose deformity, Seizure, Sneezing

Clinical findings

Elevated Angiotensin-Converting Enzyme, Elevated CD4/CD8-ratio, Mediastinal lymphadenopathy, Non-necrotizing granuloma, Uveitis

Anamneses

None listed.

Localized findings

Pain

Radiates

MaxillofacialEyesRegio nasalisThoraxJoints

Onset

Gradual (days)

Pattern

Constant

Severity

Mild (1-3)Moderate (4-7)

Rash

Radiates

Regio nasalis

Lesion type

Ulcer

Rash

Radiates

ThoraxAbdomenGenitalArmBackLower body

Distribution

AsymmetricLocalizedMultipleSingleSymmetric

Lesion type

ErythemaNodule

Lesion configuration

AnnularDiscoid/nummular

Color

Red

Associated symptom

PainSwelling

Approach

Blood test: Anemia, leukopenia, thrombocytopenia, liver function tests, blood urea nitrogen, creatinine, glucose, electrolytes, hypercalcemia [3ar]
Serelogy: ACE-inhibitor, adenosine deaminase, serum amyloid A, and soluble interleukin-2 receptor [cc4][3ar]
Spirometry: reduced vital capacity, functional residual capacity, dynamic lung compliance, DLCO
Broncho Alveolar Lavage (BAL): CD4:CD8 ratio
Chest X-ray
CT thorax
PET-CT
MRI caput
Tissue biopsy

Radiographic Stages [3ar]

Stage I: Presence of bilateral hilar adenopathy
Stage II: Bilateral hilar adenopathy and reticular opacities
Stage III: Reticular opacities with shrinking hilar nodes (mainly infiltrates)
Stage IV: Reticular opacities with fibrosis

Treatment

The management depends on the course of the disease and many experience spontaneous remission within 6 months after diagnosis. [cc4]

NSAIDs for the treatment of arthralgias [l9w]
Steroid treatment: IV methylprednisolone or oral prednisone: 2 mg/kg/day
Steroid-resistant disease: [l9w]
- Methotrexate
- Chloroquine
- Cyclophosphamide
- Azathioprine
- Chlorambucil
- Cyclosporine
- Infliximab
- Thalidomide
Lung transplantation

Differential diagnoses

Acute invasive fungal sinusitis, Acute sinusitis, Allergic rhinosinusitis, Allergy, Arteriosclerosis, Cat scratch disease, Chronic sinusitis, Eosinophilic granuloma, Fungal infection, Leprosy, Lung cancer, Lymphoma, Pneumonia, Pneumonitis, Portal hypertension, Primary biliary cirrhosis, Tuberculosis, Uveitis, Wegener's granulomatosis

References

[1] Bokhari SRA, Zulfiqar H, Mansur A. Sarcoidosis. [Updated 2023 Jun 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430687/

[2] Bechman K, Biddle K, Russell M, Gibson M, adas m, Yang Z, Alveyn E, Nagra d, Norton S, biring S, Galloway J. The Incidence and Prevalence of Sarcoidosis in England [abstract]. Arthritis Rheumatol. 2024; 76 (suppl 9).

[3] Hoffmann AL, Milman N, Byg KE. Childhood sarcoidosis in Denmark 1979–1994: incidence, clinical features and laboratory results at presentation in 48 children. Acta Paediatr 2004; 93: 30–36.

[4] Morimoto T, Azuma A, Abe S, Usuki J, Kudoh S, Sugisaki K, Oritsu M, Nukiwa T. Epidemiology of sarcoidosis in Japan. Eur Respir J. 2008 Feb;31(2):372-9.

[5] Rybicki BA, Major M, Popovich J Jr, Maliarik MJ, Iannuzzi MC. Racial differences in sarcoidosis incidence: a 5-year study in a health maintenance organization. Am J Epidemiol. 1997 Feb 1;145(3):234-41.

[6] Dumas O, Abramovitz L, Wiley AS, Cozier YC, Camargo CA Jr. Epidemiology of Sarcoidosis in a Prospective Cohort Study of U.S. Women. Ann Am Thorac Soc. 2016 Jan;13(1):67-71.

[7] Fernández-Ramón R, Gaitán-Valdizán JJ, Sánchez-Bilbao L, Martín-Varillas JL, Martínez-López D, Demetrio-Pablo R, González-Vela MC, Cifrián J, Castañeda S, Llorca J, González-Gay MA, Blanco R. Epidemiology of sarcoidosis in northern Spain, 1999-2019: A population-based study. Eur J Intern Med. 2021 Sep;91:63-69.

[8] Hena KM. Sarcoidosis Epidemiology: Race Matters. Front Immunol. 2020 Sep 15;11:537382.

[9] Clément, A., Epaud, R., & Fauroux, B. (2005). CHAPTER 16 Sarcoidosis in children.

[10] http://emedicine.medscape.com/article/301914 (2014-01-02); [Medscape]

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