Sarcoidosis: Causes, Diagnosis, Clinical Features, and Treatments

Jain, R.K.; Yadav, Dhananjay; Puranik, Nidhi; Guleria, Randeep; Jin, Jun‐O

doi:10.3390/jcm9041081

Cited by 100 publications

(89 citation statements)

References 184 publications

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“…Several genome wide association studies have demonstrated that both HLA and non-HLA alleles are associated with the development of sarcoidosis and with disease phenotype [ 21 ] ( Tables S1 and S2 ). There are at least eleven more relevant risk loci identified so far (chromosome 11q13.1, HLA-B, HLA-DPB1, ANXA11, IL23R, IL12B, BTNL2, NFKB1/MANBA, SH2B3/ATXN2, FAM177B, and RAB23).…”

Section: Classical Examples Of the Asia Syndromementioning

confidence: 99%

“…There are at least eleven more relevant risk loci identified so far (chromosome 11q13.1, HLA-B, HLA-DPB1, ANXA11, IL23R, IL12B, BTNL2, NFKB1/MANBA, SH2B3/ATXN2, FAM177B, and RAB23). In this context, gene polymorphisms encoding for cytokines, chemokines and other molecules involved in inflammatory pathways, such as interleukin-1 (IL-1), tumor necrosis factor α (TNF-α), transforming growth factor β (TGF-β), and Toll-like receptor 4 (TLR-4), seem to be associated with disease susceptibility [ 19 , 21 , 22 ].…”

Section: Classical Examples Of the Asia Syndromementioning

confidence: 99%

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Classical Examples of the Concept of the ASIA Syndrome

et al. 2020

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Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) was first introduced in 2011 by Shoenfeld et al. and encompasses a cluster of related immune mediated diseases, which develop among genetically prone individuals as a result of adjuvant agent exposure. Since the recognition of ASIA syndrome, more than 4400 documented cases have been reported so far, illustrated by heterogeneous clinical manifestations and severity. In this review, five enigmatic conditions, including sarcoidosis, Sjögren’s syndrome, undifferentiated connective tissue disease, silicone implant incompatibility syndrome (SIIS), and immune-related adverse events (irAEs), are defined as classical examples of ASIA. Certainly, these disorders have been described after an adjuvant stimulus (silicone implantation, drugs, infections, metals, vaccines, etc.) among genetically predisposed individuals (mainly the HLA-DRB1 and PTPN22 gene), which induce an hyperstimulation of the immune system resulting in the production of autoantibodies, eventually leading to the development of autoimmune diseases. Circulating autonomic autoantibodies in the sera of patients with silicone breast implants, as well as anatomopathological aspects of small fiber neuropathy in their skin biopsies have been recently described. To our knowledge, these novel insights serve as a common explanation to the non-specific clinical manifestations reported in patients with ASIA, leading to the redefinition of the ASIA syndrome diagnostic criteria.

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Section: Classical Examples Of the Asia Syndromementioning

confidence: 99%

Section: Classical Examples Of the Asia Syndromementioning

confidence: 99%

Classical Examples of the Concept of the ASIA Syndrome

et al. 2020

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“…Clinical manifestations in sarcoidosis cohorts differ in terms of age, sex, ethnicity, type of onset and organ involvement (Cozier, 2016;Izumi, 1992;Jain et al, 2020;Lill et al, 2016;Loddenkemper et al, 1998;Pereira et al, 2014;Prasse et al, 2008;Siltzbach et al, 1974). Japanese patients are reported to have a much higher likelihood of ocular and cardiac disease than patients in the rest of the world, while uveitis and cutaneous involvement is more common in females than males (Birnbaum et al, 2011;Brito-Zerón et al, 2016;Pasadhika and Rosenbaum, 2015;Yanardag et al, 2003Yanardag et al, , 2013.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Cardiac sarcoidosis: diagnosis and management

Markatis¹,

Afthinos²,

Antonakis³

et al. 2020

Reviews in Cardiovascular Medicine

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Sarcoidosis is a chronic inflammatory disease of unknown etiology characterized by multi-organ involvement. Endorgan disease consists of granulomatous inflammation, which if left untreated or not resolved spontaneously, leads to permanent fibrosis and end-organ dysfunction. Cardiac involvement and fibrosis in sarcoidosis occur in 5-10% of cases and is becoming increasingly diagnosed. This is due to increased clinical awareness among clinicians and new diagnostic modalities, since magnetic resonance imaging and positron-emission tomography are emerging as "gold standard'' tools replacing endomyocardial biopsy. Despite this progress, isolated cardiac sarcoidosis is difficult to differentiate from other causes of arrhythmogenic cardiomyopathy. Cardiac fibrosis leads to congestive heart failure, arrhythmias and sudden cardiac death. Immunosuppressives (mostly corticosteroids) are used for the treatment of cardiac sarcoidosis. Implantable devices like a cardioverter-defibrillator may be warranted in order to prevent sudden cardiac death. In this article current trends in the pathophysiology, diagnosis and management of cardiac sarcoidosis will be reviewed focusing on published research and latest guidelines. Lastly, a management algorithm is proposed.

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“…In the case of neurosarcoidosis, treatment is always required and the treatment regimen depends on expert opinion, as well as on clinical manifestations. Glucocorticoids are generally the initial therapy, whereas the more severe cases are candidates for the second and third-line therapy which includes cytotoxic and immunomodulatory drugs, in addition to monoclonal antibodies ( Figure 3) [22,23]. The prognosis of neurosarcoidosis varies in every case depending on the clinical course and severity of the disease [14].…”

Section: Treatmentmentioning

confidence: 99%