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Sarcoidosis

MedGen UID:
48554
•Concept ID:
C0036202
•
Disease or Syndrome
Synonyms: Sarcoid of Boeck; Schaumann's disease
SNOMED CT: Boeck's sarcoidosis (31541009); Sarcoidosis (31541009); Boeck's sarcoid (31541009); Besnier-Boeck-Schaumann syndrome (31541009); Miliary lupoid of Boeck (31541009); Lupus pernio of Besnier (31541009); Benign lymphogranulomatosis of Schaumann (31541009); Darier-Roussy sarcoid (31541009)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019338
Orphanet: ORPHA797

Definition

A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSarcoidosis
Follow this link to review classifications for Sarcoidosis in Orphanet.

Professional guidelines

PubMed

Diagnosis and Treatment of Pulmonary Sarcoidosis: A Review.
Belperio JA, Shaikh F, Abtin FG, Fishbein MC, Weigt SS, Saggar R, Lynch JP 3rd
JAMA 2022 Mar 1;327(9):856-867. doi: 10.1001/jama.2022.1570. PMID: 35230389
ERS clinical practice guidelines on treatment of sarcoidosis.
Baughman RP, Valeyre D, Korsten P, Mathioudakis AG, Wuyts WA, Wells A, Rottoli P, Nunes H, Lower EE, Judson MA, Israel-Biet D, Grutters JC, Drent M, Culver DA, Bonella F, Antoniou K, Martone F, Quadder B, Spitzer G, Nagavci B, Tonia T, Rigau D, Ouellette DR
Eur Respir J 2021 Dec;58(6) Epub 2021 Dec 16 doi: 10.1183/13993003.04079-2020. PMID: 34140301
HRS expert consensus statement on the diagnosis and management of arrhythmias associated with cardiac sarcoidosis.
Birnie DH, Sauer WH, Bogun F, Cooper JM, Culver DA, Duvernoy CS, Judson MA, Kron J, Mehta D, Cosedis Nielsen J, Patel AR, Ohe T, Raatikainen P, Soejima K
Heart Rhythm 2014 Jul;11(7):1305-23. Epub 2014 May 9 doi: 10.1016/j.hrthm.2014.03.043. PMID: 24819193

Recent clinical studies

Etiology

Interstitial Lung Disease and Sarcoidosis.
Sharp M, Mustafa AM, Farah N, Bonham CA
Clin Chest Med 2023 Sep;44(3):575-584. doi: 10.1016/j.ccm.2023.06.003. PMID: 37517836
Pulmonary Sarcoidosis.
Valeyre D, Bernaudin JF, Jeny F, Duchemann B, Freynet O, Planès C, Kambouchner M, Nunes H
Clin Chest Med 2015 Dec;36(4):631-41. doi: 10.1016/j.ccm.2015.08.006. PMID: 26593138
Sarcoidosis.
Smith L
Workplace Health Saf 2015 Aug;63(8):372. doi: 10.1177/2165079915592748. PMID: 26240121
HRS expert consensus statement on the diagnosis and management of arrhythmias associated with cardiac sarcoidosis.
Birnie DH, Sauer WH, Bogun F, Cooper JM, Culver DA, Duvernoy CS, Judson MA, Kron J, Mehta D, Cosedis Nielsen J, Patel AR, Ohe T, Raatikainen P, Soejima K
Heart Rhythm 2014 Jul;11(7):1305-23. Epub 2014 May 9 doi: 10.1016/j.hrthm.2014.03.043. PMID: 24819193
Sarcoidosis.
Cox CE, Davis-Allen A, Judson MA
Med Clin North Am 2005 Jul;89(4):817-28. doi: 10.1016/j.mcna.2005.02.006. PMID: 15925652

Diagnosis

Ocular Sarcoidosis.
Rosenbaum JT, Pasadhika S
Clin Chest Med 2024 Mar;45(1):59-70. Epub 2023 Sep 1 doi: 10.1016/j.ccm.2023.08.003. PMID: 38245371
Cardiac Sarcoidosis.
Ribeiro Neto ML, Jellis CL, Cremer PC, Harper LJ, Taimeh Z, Culver DA
Clin Chest Med 2024 Mar;45(1):105-118. Epub 2023 Sep 4 doi: 10.1016/j.ccm.2023.08.006. PMID: 38245360
Diagnosis and Treatment of Pulmonary Sarcoidosis: A Review.
Belperio JA, Shaikh F, Abtin FG, Fishbein MC, Weigt SS, Saggar R, Lynch JP 3rd
JAMA 2022 Mar 1;327(9):856-867. doi: 10.1001/jama.2022.1570. PMID: 35230389
BTS Clinical Statement on pulmonary sarcoidosis.
Thillai M, Atkins CP, Crawshaw A, Hart SP, Ho LP, Kouranos V, Patterson K, Screaton NJ, Whight J, Wells AU
Thorax 2021 Jan;76(1):4-20. Epub 2020 Dec 2 doi: 10.1136/thoraxjnl-2019-214348. PMID: 33268456
Sarcoidosis.
Llanos O, Hamzeh N
Med Clin North Am 2019 May;103(3):527-534. Epub 2019 Feb 21 doi: 10.1016/j.mcna.2018.12.011. PMID: 30955519

Therapy

Diagnostic and management strategies in cardiac sarcoidosis.
Malhi JK, Ibecheozor C, Chrispin J, Gilotra NA
Int J Cardiol 2024 May 15;403:131853. Epub 2024 Feb 17 doi: 10.1016/j.ijcard.2024.131853. PMID: 38373681
Cardiac magnetic resonance biomarkers as surrogate endpoints in cardiovascular trials for myocardial diseases.
Benz DC, Gräni C, Antiochos P, Heydari B, Gissler MC, Ge Y, Cuddy SAM, Dorbala S, Kwong RY
Eur Heart J 2023 Dec 1;44(45):4738-4747. doi: 10.1093/eurheartj/ehad510. PMID: 37700499Free PMC Article
Treatment of Sarcoidosis: A Multidisciplinary Approach.
Gerke AK
Front Immunol 2020;11:545413. Epub 2020 Nov 19 doi: 10.3389/fimmu.2020.545413. PMID: 33329511Free PMC Article
Sarcoidosis-Associated Pulmonary Hypertension.
Shlobin OA, Baughman RP
Semin Respir Crit Care Med 2017 Aug;38(4):450-462. Epub 2017 Jul 27 doi: 10.1055/s-0037-1603767. PMID: 28750460
Atypical Optic Neuritis.
Gaier ED, Boudreault K, Rizzo JF 3rd, Falardeau J, Cestari DM
Curr Neurol Neurosci Rep 2015 Dec;15(12):76. doi: 10.1007/s11910-015-0598-1. PMID: 26467052

Prognosis

Sarcoidosis epidemiology: recent estimates of incidence, prevalence and risk factors.
Arkema EV, Cozier YC
Curr Opin Pulm Med 2020 Sep;26(5):527-534. doi: 10.1097/MCP.0000000000000715. PMID: 32701677Free PMC Article
Advanced sarcoidosis.
Baughman RP, Wells A
Curr Opin Pulm Med 2019 Sep;25(5):497-504. doi: 10.1097/MCP.0000000000000612. PMID: 31365384
Sarcoidosis around the Globe.
Mateyo K, Thomeer M
Semin Respir Crit Care Med 2017 Aug;38(4):393-403. Epub 2017 Jul 27 doi: 10.1055/s-0037-1602845. PMID: 28750456
Outcome of sarcoidosis.
Nagai S, Handa T, Ito Y, Ohta K, Tamaya M, Izumi T
Clin Chest Med 2008 Sep;29(3):565-74, x. doi: 10.1016/j.ccm.2008.03.006. PMID: 18539245
Sarcoidosis.
Tozman EC
Curr Opin Rheumatol 1989 Dec;1(4):540-4. doi: 10.1097/00002281-198901040-00021. PMID: 2702058

Clinical prediction guides

Presentation, diagnosis and clinical course of the spectrum of progressive-fibrosing interstitial lung diseases.
Cottin V, Hirani NA, Hotchkin DL, Nambiar AM, Ogura T, Otaola M, Skowasch D, Park JS, Poonyagariyagorn HK, Wuyts W, Wells AU
Eur Respir Rev 2018 Dec 31;27(150) Epub 2018 Dec 21 doi: 10.1183/16000617.0076-2018. PMID: 30578335Free PMC Article
Role of Cardiac Magnetic Resonance in the Diagnosis and Prognosis of Nonischemic Cardiomyopathy.
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.
Muchtar E, Blauwet LA, Gertz MA
Circ Res 2017 Sep 15;121(7):819-837. doi: 10.1161/CIRCRESAHA.117.310982. PMID: 28912185
Cardiac sarcoidosis: contemporary review.
Kron J, Ellenbogen KA
J Cardiovasc Electrophysiol 2015 Jan;26(1):104-9. Epub 2014 Nov 4 doi: 10.1111/jce.12552. PMID: 25231794
Infiltrative diseases of the heart.
Moinuddin MJ, Figueredo V, Amanullah AM
Rev Cardiovasc Med 2010 Fall;11(4):218-27. doi: 10.3909/ricm0551. PMID: 21389911

Recent systematic reviews

Myocarditis in systemic immune-mediated diseases: Prevalence, characteristics and prognosis. A systematic review.
Cheng CY, Baritussio A, Giordani AS, Iliceto S, Marcolongo R, Caforio ALP
Autoimmun Rev 2022 Apr;21(4):103037. Epub 2022 Jan 5 doi: 10.1016/j.autrev.2022.103037. PMID: 34995763
Paradoxical eruptions to targeted therapies in dermatology: A systematic review and analysis.
Murphy MJ, Cohen JM, Vesely MD, Damsky W
J Am Acad Dermatol 2022 May;86(5):1080-1091. Epub 2020 Dec 8 doi: 10.1016/j.jaad.2020.12.010. PMID: 33307146
Pulmonary rehabilitation for interstitial lung disease.
Dowman L, Hill CJ, May A, Holland AE
Cochrane Database Syst Rev 2021 Feb 1;2(2):CD006322. doi: 10.1002/14651858.CD006322.pub4. PMID: 34559419Free PMC Article
Ocular Manifestations in Rheumatoid Arthritis, Connective Tissue Disease, and Vasculitis: A Systematic Review and Metaanalysis.
Turk MA, Hayworth JL, Nevskaya T, Pope JE
J Rheumatol 2021 Jan 1;48(1):25-34. Epub 2020 May 1 doi: 10.3899/jrheum.190768. PMID: 32358156
Clinical features, treatment and outcome in neurosarcoidosis: systematic review and meta-analysis.
Fritz D, van de Beek D, Brouwer MC
BMC Neurol 2016 Nov 15;16(1):220. doi: 10.1186/s12883-016-0741-x. PMID: 27846819Free PMC Article

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