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Internal Medicine (Tokyo, Japan) Feb 2022Behçet disease and its related disorder, Sweet disease, are multifactorial disorders whose susceptibility loci have been identified in the genes of various...
Behçet disease and its related disorder, Sweet disease, are multifactorial disorders whose susceptibility loci have been identified in the genes of various immunological factors aside from human leukocyte antigens. The neurological involvement of these diseases, including encephalitis, myelitis, and meningitis, referred to as neuro-Behçet disease (NBD) and neuro-Sweet disease (NSD) respectively, is sometimes difficult to diagnose, especially when the characteristic mucocutaneous symptoms do not precede neurological symptoms or when characteristics of both diseases are present in a single patient. NBD and NSD constitute a spectrum of diseases that are differentiated according to the combination of risk factors, including the genetic background. Encephalitis, myelitis, and meningitis similar to NBD or NSD can be diagnosed as spectrum disorders, even if the characteristic mucocutaneous symptoms fail to be detected. Understanding these conditions as a disease spectrum may help elucidate the disease pathogenesis and assist in the development of therapeutic agents.
Topics: Behcet Syndrome; Diagnosis, Differential; Encephalitis; Humans; Meningitis; Sweet Syndrome
PubMed: 34615825
DOI: 10.2169/internalmedicine.8227-21 -
Indian Journal of Ophthalmology Jun 2023Vogt-Koyanagi-Harada (VKH) disease, a bilateral granulomatous panuveitis associated with multisystem involvement, is a T-cell-mediated autoimmune disorder in which...
Vogt-Koyanagi-Harada (VKH) disease, a bilateral granulomatous panuveitis associated with multisystem involvement, is a T-cell-mediated autoimmune disorder in which cytotoxic T-cell target melanocytes in genetically susceptible individuals. Recently, there has been an increase in literature on the new onset of uveitis and reactivation of previously diagnosed cases of uveitis following Covid-19 vaccinations. It has been postulated that Covid-19 vaccines can lead to an immunomodulatory change resulting in an autoimmune phenomenon in the recipients. VKH following COVID-19 infection was reported in four patients and a total of 46 patients developing VKH or VKH-like disease following COVID-19 vaccinations. There are reports of four patients who had been recovering or recovered from VKH after receiving the first dosage of the vaccine and developed worsening of ocular inflammation after receiving the second dose of the vaccine.
Topics: Humans; Uveomeningoencephalitic Syndrome; COVID-19 Vaccines; COVID-19; Panuveitis; Uveitis
PubMed: 37322685
DOI: 10.4103/IJO.IJO_172_23 -
Medicina (Kaunas, Lithuania) Jan 2022Primary inflammatory choriocapillaropathies (PICCPs) belong to a group of intraocular inflammatory diseases with the common characteristic of inflammatory... (Review)
Review
PURPOSE
Primary inflammatory choriocapillaropathies (PICCPs) belong to a group of intraocular inflammatory diseases with the common characteristic of inflammatory choriocapillaris hypo- or non-perfusion as the main clinicopathological mechanism. The purpose of our article is to describe clinical characteristics and multimodal imaging, that can help the diagnosis and treatment of PICCPs.
METHODS
Narrative review with multimodal imaging analysis.
RESULTS
Choriocapillaris non-perfusion can affect the end-choriocappilaries, at the benign end of the PICCP spectrum (MEWDS), to larger choriocapillaris vessels or precapillary vessels at the origin of more severe forms such as acute posterior multifocal placoid pigment epitheliopathy (APMPPE), idiopathic multifocal choroiditis (MFC) and Serpiginous Choroiditis (SC). Diagnosis is mostly based on multimodal imaging and especially on indocyanine green angiography (ICGA), fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT)/OCT-angiography (OCT-A). ICGA shows the typical pattern of patchy lobular hypofluorescence reflecting hypo- or non-perfusion of the choriocapillaris that can also take the aspect of geographic areas in the more severe forms. Treatment depends on the severity of the disease and goes from observation in MEWDS and some mild cases of APMPPE, to oral corticosteroid and/or immunomodulator agents in the more severe conditions of APMPPE and MFC and SC cases. Close multimodal monitoring is crucial in order to introduce or adjust treatment.
CONCLUSION
PICCPs are resulting from one common clinicopathological mechanism, inflammatory choriocapillaris hypo- or non-perfusion. ICGA findings are essential for the diagnosis and follow-up of PICCPs, but non-invasive methods such as FAF and SD-OCT/OCT-A also have their role especially in follow-up of the diseases. Treatment should be individualized according to the pathology and the evolution of lesions.
Topics: Choroid; Choroiditis; Fluorescein Angiography; Humans; Multifocal Choroiditis; Tomography, Optical Coherence
PubMed: 35208488
DOI: 10.3390/medicina58020165 -
Journal of Autoimmunity Oct 2022Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease. (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease.
METHODS
A total of 1762 male and 1216 female patients with Behçet's disease from six diverse populations were studied, with the majority of patients of Turkish origin. Genotyping was performed using an Infinium ImmunoArray-24 BeadChip, or extracted from available genotyping data. Following imputation and extensive quality control measures, genome-wide association analysis was performed comparing male to female patients in the Turkish cohort, followed by a meta-analysis of significant results in all six populations. In addition, a weighted genetic risk score for Behçet's disease was calculated and compared between male and female patients.
RESULTS
Genetic association analysis comparing male to female patients with Behçet's disease from Turkey revealed an association with male sex in HLA-B/MICA within the HLA region with a GWAS level of significance (rs2848712, OR = 1.46, P = 1.22 × 10). Meta-analysis of the effect in rs2848712 across six populations confirmed these results. Genetic risk score for Behçet's disease was significantly higher in male compared to female patients from Turkey. Higher genetic risk for Behçet's disease was observed in male patients in HLA-B/MICA (rs116799036, OR = 1.45, P = 1.95 × 10), HLA-C (rs12525170, OR = 1.46, P = 5.66 × 10), and KLRC4 (rs2617170, OR = 1.20, P = 0.019). In contrast, IFNGR1 (rs4896243, OR = 0.86, P = 0.011) was shown to confer higher genetic risk in female patients.
CONCLUSIONS
Male patients with Behçet's disease are characterized by higher genetic risk compared to female patients. This genetic difference, primarily derived from our Turkish cohort, is largely explained by risk within the HLA region. These data suggest that genetic factors might contribute to differences in disease presentation between men and women with Behçet's disease.
Topics: Humans; Female; Male; Behcet Syndrome; Genome-Wide Association Study; Risk Factors; HLA-C Antigens; Genetic Testing
PubMed: 35987173
DOI: 10.1016/j.jaut.2022.102882 -
Mediators of Inflammation 2020To examine demographic and clinical characteristics and long-term visual outcome in a cohort of Italian patients affected by Behçet's uveitis (BU).
OBJECTIVES
To examine demographic and clinical characteristics and long-term visual outcome in a cohort of Italian patients affected by Behçet's uveitis (BU).
MATERIALS AND METHODS
Retrospective chart review of 47 patients with BU attending our unit between January 2018 and December 2019. Ophthalmologic manifestations, best-corrected visual acuity (BCVA), fluoroangiography and optical coherence tomography findings, and ocular complications were recorded. Predictive factors of a poor visual outcome and long-term complications were also investigated.
RESULTS
Forty-seven patients (23 males and 24 females) for a total of 84 eyes were enrolled. Uveitis was bilateral in 37 (78.7%) patients with panuveitis being the most frequent anatomical pattern (40 out of 84 eyes), whereas 27 eyes presented a posterior uveitis. Isolated anterior uveitis was detected in 16 eyes. A significant improvement of median BCVA between baseline and last follow-up values was detected ( = 0.042). A higher risk of poor visual prognosis was observed in patients with uveitis duration greater than 15 years ( = 0.019). A significant resolution of retinal vasculitis was detected between baseline and last follow-up evaluation ( < 0.0001) whereas the mean ± SD macular thickness did not decrease significantly between baseline (376.00 ± 97.45 m) and last follow-up evaluation (338.08 ± 55.81 m). Forty-two eyes developed 57 complications during the disease course. Cataract was the most frequent ( = 12), followed by epiretinal membranes ( = 11) and cystoid macular edema ( = 6). The following variables were identified as predictors of long-term complications: human leukocyte antigen- (HLA-) B51 ( = 0.006), panuveitis ( = 0.037), and a uveitis duration of more than 15 years ( = 0.049).
CONCLUSIONS
In Italian patients, BU typically arises in the third decade and predominantly manifests as a bilateral posterior uveitis or panuveitis. Its duration is associated with a poor visual prognosis. Uveitis duration, the presence of HLA-B51, and panuveitis are predictors of long-term structural complications, thus representing main drivers in the treatment decision-making.
Topics: Adult; Behcet Syndrome; Cataract; Female; Fluorescein Angiography; HLA-B51 Antigen; Humans; Italy; Macular Edema; Male; Middle Aged; Ophthalmology; Panuveitis; Prognosis; Retrospective Studies; Tomography, Optical Coherence; Treatment Outcome; Uveitis; Young Adult
PubMed: 32508524
DOI: 10.1155/2020/6872402 -
Journal of Neuroinflammation May 2024Behcet's disease (BD) is a rare but globally distributed vasculitis that primarily affects populations in the Mediterranean and Asian regions. Behcet's uveitis (BU) is a... (Review)
Review
Behcet's disease (BD) is a rare but globally distributed vasculitis that primarily affects populations in the Mediterranean and Asian regions. Behcet's uveitis (BU) is a common manifestation of BD, occurring in over two-thirds of the patients. BU is characterized by bilateral, chronic, recurrent, non-granulomatous uveitis in association with complications such as retinal ischemia and atrophy, optic atrophy, macular ischemia, macular edema, and further neovascular complications (vitreous hemorrhage, neovascular glaucoma). Although the etiology and pathogenesis of BU remain unclear, numerous studies reveal that genetic factors (such as HLA-B51), dysregulated immune responses of both the innate and adaptive immune systems, infections (such as streptococcus), and environmental factors (such as GDP) are all involved in its development. Innate immunity, including hyperactivity of neutrophils and γδT cells and elevated NK1/NK2 ratios, has been shown to play an essential role in this disease. Adaptive immune system disturbance, including homeostatic perturbations, Th1, Th17 overaction, and Treg cell dysfunction, is thought to be involved in BU pathogenesis. Treatment of BU requires a tailored approach based on the location, severity of inflammation, and systemic manifestations. The therapy aims to achieve rapid inflammation suppression, preservation of vision, and prevention of recurrence. Systemic corticosteroids combined with other immunosuppressive agents have been widely used to treat BU, and beneficial effects are observed in most patients. Recently, biologics have been shown to be effective in treating refractory BU cases. Novel therapeutic targets for treating BU include the LCK gene, Th17/Treg balance, JAK pathway inhibition, and cytokines such as IL-17 and RORγt. This article summarizes the recent studies on BU, especially in terms of pathogenesis, diagnostic criteria and classification, auxiliary examination, and treatment options. A better understanding of the significance of microbiome composition, genetic basis, and persistent immune mechanisms, as well as advancements in identifying new biomarkers and implementing objective quantitative detection of BU, may greatly contribute to improving the adequate management of BU patients.
Topics: Humans; Behcet Syndrome; Uveitis; Animals
PubMed: 38778397
DOI: 10.1186/s12974-024-03123-6 -
Acta Reumatologica Portuguesa 2020Behcet's disease (BD) is a multisystem autoimmune relapsing vasculitis with almost unknown etiology, which involves both large and small vessels. The involvement of the... (Review)
Review
INTRODUCTION
Behcet's disease (BD) is a multisystem autoimmune relapsing vasculitis with almost unknown etiology, which involves both large and small vessels. The involvement of the central nervous system (CNS) is rare, divided into two main sub-types- parenchymal nad and non-parenchymal. The peripheral nervous system is generally preserved or involved in very rare cases.
CASE REPORT
We present a rare case of neuro-Behcet's Disease (NBD) in a young 25-year-old female. The patient presented to our clinic with sudden onset complaints of general weakness, quadriparesis more prevalent for the right limbs, slurred speech, and swallowing disorders. Initially, a clinical diagnosis of cerebral infarction was made, but later the condition was defined as parenchymal Neuro-Behcet disease and the patient underwent corticosteroid and immunosuppressive treatment.
DISCUSSION
NBD remains a difficult diagnosis to establish as other diseases and conditions may have a similar clinical presentation. The diagnosis is based on the clinical presentation and the typical lesions in brain magnetic resonance imaging (MRI). The development and disappearance of lesions at MRI in relation with disease-specific treatment may correlate with the course of clinical neurologic deficits.
CONCLUSIONS
Differential diagnosis of NBD should be considered in cerebrovascular disease, brain tumors, and demyelinating processes.
Topics: Adult; Behcet Syndrome; Female; Humans; Nervous System Diseases
PubMed: 32898126
DOI: No ID Found -
Archivos de La Sociedad Espanola de... Aug 2023The objective of this research is to identify and systematize the medical conditions generated by SARS-CoV-2 on the optic nerve and retina of young, adult, and elderly... (Review)
Review
The objective of this research is to identify and systematize the medical conditions generated by SARS-CoV-2 on the optic nerve and retina of young, adult, and elderly adults who suffered from COVID-19 in the period 2019-2022. A theoretical documentary review (TDR) was conducted within the framework of an investigation to determine the current state of knowledge of the subject under study. The TDR includes the analysis of publications in the scientific databases PubMed/Medline, Ebsco, Scielo and Google. A total of 167 articles were found, of which 56 were studied in depth, and these evidence the impact of COVID-19 infection on the retina and optic nerve of infected patients, both during the acute phase and in subsequent recovery. Among the reported findings, the following stand out: anterior and posterior non-arteritic ischemic optic neuropathy, optic neuritis, central or branch vascular occlusion, paracentral acute medial maculopathy, neuroretinitis, as well as concomitant diagnoses such as possible Vogt-Koyanagi-Harada disease, multiple evanescent white dot syndrome (MEWDS), Purtscher-like retinopathy, among others.
Topics: Adult; Humans; Aged; COVID-19; SARS-CoV-2; Retina; Optic Nerve; Chorioretinitis
PubMed: 37369321
DOI: 10.1016/j.oftale.2023.06.015 -
American Journal of Ophthalmology Aug 2021To determine classification criteria for multifocal choroiditis with panuveitis (MFCPU).
PURPOSE
To determine classification criteria for multifocal choroiditis with panuveitis (MFCPU).
DESIGN
Machine learning of cases with MFCPU and 8 other posterior uveitides.
METHODS
Cases of posterior uveitides were collected in an informatics-designed preliminary database, and a final database was constructed of cases achieving supermajority agreement on diagnosis, using formal consensus techniques. Cases were split into a training set and a validation set. Machine learning using multinomial logistic regression was used on the training set to determine a parsimonious set of criteria that minimized the misclassification rate among the posterior uveitides. The resulting criteria were evaluated on the validation set.
RESULTS
One thousand sixty-eight cases of posterior uveitides, including 138 cases of MFCPU, were evaluated by machine learning. Key criteria for MFCPU included (1) multifocal choroiditis with the predominant lesions size >125 µm in diameter; (2) lesions outside the posterior pole (with or without posterior involvement); and either (3) punched-out atrophic chorioretinal scars or (4) more than minimal mild anterior chamber and/or vitreous inflammation. Overall accuracy for posterior uveitides was 93.9% in the training set and 98.0% (95% confidence interval 94.3, 99.3) in the validation set. The misclassification rates for MFCPU were 15% in the training set and 0% in the validation set.
CONCLUSIONS
The criteria for MFCPU had a reasonably low misclassification rate and seemed to perform sufficiently well for use in clinical and translational research.
Topics: Adult; Anterior Chamber; Female; Humans; Machine Learning; Male; Middle Aged; Multifocal Choroiditis; Visual Acuity
PubMed: 33845016
DOI: 10.1016/j.ajo.2021.03.043 -
Journal Francais D'ophtalmologie May 2023
Topics: Humans; COVID-19 Vaccines; COVID-19; Panuveitis; Visual Acuity; RNA, Messenger
PubMed: 36934019
DOI: 10.1016/j.jfo.2022.10.002