-
JACC. Case Reports Apr 2024Takayasu arteritis is characterized by blood vessel inflammation involving the aorta and its branches. We describe a patient with Takayasu arteritis with severe...
Takayasu arteritis is characterized by blood vessel inflammation involving the aorta and its branches. We describe a patient with Takayasu arteritis with severe multivessel involvement and classic physical examination findings but virtually no symptoms because of the presence of extensive collateral circulation seen on computed tomography angiography and magnetic resonance angiography imaging.
PubMed: 38774808
DOI: 10.1016/j.jaccas.2024.102252 -
JACC. Case Reports Apr 2024This study presents an unusual manifestation of Takayasu arteritis in a 16-year-old girl with significant left main and right coronary artery vasculitis. The distinct...
This study presents an unusual manifestation of Takayasu arteritis in a 16-year-old girl with significant left main and right coronary artery vasculitis. The distinct clue on the diagnosis was cardiac magnetic resonance findings of increased periaortic tissue enhancement in late gadolinium enhancement sequences. Cardiac magnetic resonance has high accuracy in the diagnosis of patients with Takayasu arteritis.
PubMed: 38774801
DOI: 10.1016/j.jaccas.2024.102279 -
Scientific Reports May 2024The Nova Scotia Duck Tolling Retriever (NSDTR) is predisposed to immune mediated rheumatic disease (IMRD), steroid-responsive meningitis-arteritis (SRMA) and certain...
The Nova Scotia Duck Tolling Retriever (NSDTR) is predisposed to immune mediated rheumatic disease (IMRD), steroid-responsive meningitis-arteritis (SRMA) and certain forms of cancer. Cytokines are the main regulators of the immune system. Interleukin 2 is a cytokine involved in activation of T regulatory cells, playing a role in central tolerance and tumor immunity. Interleukin 12 and interleukin 23 share the same subunit, p40, and are both pro-inflammatory cytokines. The aim of this study was to compare levels of IL-2 in healthy NSDTRs to those with cancer or autoimmune disease and to compare levels of IL-12/IL-23p40 in healthy NSDTRs and beagles versus NSDTRs with cancer or autoimmune disease. 62 dogs were included in the analysis of IL-12/IL-23p40; healthy NSDTRs (n = 16), healthy beagles (n = 16), NSDTRs autoimmune (n = 18) and NDSTRs lymphoma/mastocytoma (n = 12) and 68 dogs for IL-2; healthy (n = 20), autoimmune (n = 36) and lymphoma/mastocytoma/adenocarcinoma (n = 12). NSDTRs with autoimmune disease had higher levels of IL-12/IL-23p40 compared to healthy dogs (p = 0.008). NSDTRs with lymphoma also had higher levels of IL-12/IL-23p40 compared to healthy NSDTRs (p = 0.002). There was no difference in levels of IL-2 between healthy and diseased NSDTR. Statistical analysis was performed using Bonferroni corrections for multiple testing. These findings can contribute to the knowledge of autoimmune disease and cancer in dogs.
Topics: Animals; Dogs; Autoimmune Diseases; Lymphoma; Dog Diseases; Interleukin-12; Female; Male; Interleukin-23; Interleukin-2
PubMed: 38773194
DOI: 10.1038/s41598-024-62265-y -
Journal of Autoimmunity Jun 2024To assess the prognosis and outcome of patients with isolated carotid vasculitis.
OBJECTIVE
To assess the prognosis and outcome of patients with isolated carotid vasculitis.
METHODS
We performed a retrospective multicenter study of 36 patients (median age at diagnosis was 37 [IQR 27-45] years and 11 [31 %] patients were men) with initial presentation as isolated carotid vasculitis. Study endpoints included vascular complications, relapses, and progression to large vessel vasculitis (i.e. Giant cell arteritis or Takayasu).
RESULTS
The most frequent involvement was the left internal carotid artery (39 %), and 81 % had stenosis. After a median follow-up of 32 months [IQR 12-96], 21 (58 %) patients had a vascular event, including 31 % of new onset vascular lesions and 25 % of stroke/transient ischemic attack. Patients with stroke had less carotidynia at diagnosis (33 % vs 74 %, p = 0.046), higher significant carotid stenosis (i.e. > 50 %) (89 % vs. 30 %, p = 0.026) and higher severe carotid stenosis (i.e. >70 %) (67 % vs 19 %, p = 0.012), compared to those without stroke. Twenty (52 %) patients experienced relapses. High CRP at diagnosis was associated with relapses (p = 0.022). At the end of follow-up, 21 (58 %) patients were classified as having Takayasu arteritis, 13 (36 %) as isolated carotid vasculitis, and two (6 %) as giant cell arteritis.
CONCLUSION
Carotid vasculitis may occur as a topographically limited lesion and is associated with significant rate of vascular complications.
Topics: Humans; Male; Female; Prognosis; Middle Aged; Retrospective Studies; Adult; Giant Cell Arteritis; Takayasu Arteritis; Recurrence; Vasculitis; Follow-Up Studies; Stroke; Carotid Stenosis; Disease Progression
PubMed: 38761452
DOI: 10.1016/j.jaut.2024.103242 -
Medicine May 2024Acute retinal necrosis (ARN) was first reported in 1971 by Urayama et al as an acute uveitis accompanied by retinal arteritis and white retinal lesions in the peripheral...
RATIONALE
Acute retinal necrosis (ARN) was first reported in 1971 by Urayama et al as an acute uveitis accompanied by retinal arteritis and white retinal lesions in the peripheral retina that can progress to a rhegmatogenous retinal detachment (RRD). We have experienced a case of ARN that, unlike the common developmental course to an RRD associated with ARN, progressed to proliferative vitreoretinopathy (PVR) involving the entire retina in 2 days. The purpose of this report is to present our findings in the case of ARN with an atypical rapid time course.
PATIENT CONCERNS
The patient was a 56-year-old woman who was treated for uveitis of unknown origin by her primary care physician. She was referred to our hospital because of a worsening of the fundus findings.
DIAGNOSIS
Fundus examination in our hospital revealed vitreous opacities in the right eye, yellowish-white lesions extending around the retina, and some retinal hemorrhages. Because the retinal changes suggested ARN, we performed a polymerase chain reaction of the anterior atrial fluid and detected varicella-zoster virus. Then, the diagnosis of ARN was confirmed, and treatment was begun. At 1 month and a half after beginning the treatment, focal retinal traction was observed in the right fundus. Two days later, a circumferential PVR and a total retinal detachment were detected.
INTERVENTIONS
We then performed vitrectomy with an encircling buckle and a silicone oil tamponade.
OUTCOMES
Our examination 6 months postoperatively showed that the retina was attached and the BCVA was 20/200.
LESSONS
Our findings of a case of ARN showed that the progression from a local vitreous traction to a full circumferential PVR can develop in 2 days.
Topics: Humans; Female; Retinal Necrosis Syndrome, Acute; Middle Aged; Vitreoretinopathy, Proliferative; Disease Progression; Retinal Detachment; Vitrectomy
PubMed: 38758916
DOI: 10.1097/MD.0000000000038150 -
Journal of Autoimmunity Jun 2024Giant cell arteritis (GCA) is an immune-mediated large-vessels vasculitis with complex etiology. Although the pathogenic mechanisms remain poorly understood, a central...
BACKGROUND
Giant cell arteritis (GCA) is an immune-mediated large-vessels vasculitis with complex etiology. Although the pathogenic mechanisms remain poorly understood, a central role for CD4 T cells has been demonstrated. In this context, understanding the transcriptome dysregulation in GCA CD4 T cells will yield new insights into its pathogenesis.
METHODS
Transcriptome analysis was conducted on CD4 T cells from 70 patients with GCA with different disease activity and treatment status (active patients before treatment and patients in remission with and without glucocorticoid treatment), and 28 healthy controls. The study also evaluated potential impacts of DNA methylation on gene expression alterations and assessed cross-talk with CD14 monocytes.
RESULTS
This study has uncovered a substantial number of genes and pathways potentially contributing to the pathogenicity of CD4 T cells in GCA. Specifically, CD4 T cells from GCA patients with active disease exhibited altered expression levels of genes involved in multiple immune-related processes, including various interleukins (IL) signaling pathways. Notably, IL-2, a decisive interleukin for regulatory T cells homeostasis, was among the most significant. Additionally, impaired apoptotic pathways appear crucial in GCA development. Our findings also suggest that histone-related epigenetic pathways may be implicated in promoting an inflammatory phenotype in GCA active patients. Finally, our study observed altered signaling communication, such as the Jagged-Notch signaling, between CD4 T cells and monocytes that could have pathogenic relevance in GCA.
CONCLUSIONS
Our study suggests the participation of novel cytokines and pathways and the occurrence of a disruption of monocyte-T cell crosstalk driving GCA pathogenesis.
Topics: Humans; Giant Cell Arteritis; Monocytes; CD4-Positive T-Lymphocytes; Transcriptome; Female; Male; Aged; Signal Transduction; Gene Expression Profiling; DNA Methylation; Middle Aged; Aged, 80 and over; Epigenesis, Genetic; Cell Communication; Gene Expression Regulation
PubMed: 38754238
DOI: 10.1016/j.jaut.2024.103240 -
European Heart Journal. Case Reports May 2024Granulomatosis with Polyangiitis (GPA) is a rare multi-system autoimmune disorder that may present with cardiac manifestations that are often under-recognized. In this...
BACKGROUND
Granulomatosis with Polyangiitis (GPA) is a rare multi-system autoimmune disorder that may present with cardiac manifestations that are often under-recognized. In this report, we discuss a usual case of a patient who presented as a cardiac emergency with recurrent ST elevation and discuss the approach and management.
CASE SUMMARY
A 44-year-old man presented with two episodes of chest pain associated with ST-segment elevation on 12-lead ECG. Under investigation over the past several weeks for fatigue, nasal congestion, and red eyes, his first presentation was associated with widespread ST-segment elevation and an echogenic myocardium suggestive of myocarditis that was confirmed on cardiac MRI. A week later, the development of chest pain, antero-lateral ST elevation, and regional wall motion abnormalities suggested an acute coronary syndrome and he proceeded to primary percutaneous intervention that treated a lesion in the distal left anterior descending artery secondary to coronary arteritis. Diagnosed with GPA, he was started on immunosuppression and has had a resolution of his cardiac involvement at follow-up.
DISCUSSION
This case report describes an unusual case of myocarditis and coronary arteritis presenting acutely in the same patient and emphasizes the importance of considering systemic autoimmune conditions when encountering primarily cardiac presentations. Early recognition and diagnosis of cardiac involvement will improve the long-term outcomes in these patients.
PubMed: 38745729
DOI: 10.1093/ehjcr/ytae228 -
The Lancet. Rheumatology Jun 2024Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases. We aimed to characterise the genetic basis of giant cell arteritis by performing the largest GWAS of this vasculitis to date and to assess the functional consequences and clinical implications of identified risk loci.
METHODS
We collected and meta-analysed genomic data from patients with giant cell arteritis and healthy controls of European ancestry from ten cohorts across Europe and North America. Eligible patients required confirmation of giant cell arteritis diagnosis by positive temporal artery biopsy, positive temporal artery doppler ultrasonography, or imaging techniques confirming large-vessel vasculitis. We assessed the functional consequences of loci associated with giant cell arteritis using cell enrichment analysis, fine-mapping, and causal gene prioritisation. We also performed a drug repurposing analysis and developed a polygenic risk score to explore the clinical implications of our findings.
FINDINGS
We included a total of 3498 patients with giant cell arteritis and 15 550 controls. We identified three novel loci associated with risk of giant cell arteritis. Two loci, MFGE8 (rs8029053; p=4·96 × 10; OR 1·19 [95% CI 1·12-1·26]) and VTN (rs704; p=2·75 × 10; OR 0·84 [0·79-0·89]), were related to angiogenesis pathways and the third locus, CCDC25 (rs11782624; p=1·28 × 10; OR 1·18 [1·12-1·25]), was related to neutrophil extracellular traps (NETs). We also found an association between this vasculitis and HLA region and PLG. Variants associated with giant cell arteritis seemed to fulfil a specific regulatory role in crucial immune cell types. Furthermore, we identified several drugs that could represent promising candidates for treatment of this disease. The polygenic risk score model was able to identify individuals at increased risk of developing giant cell arteritis (90th percentile OR 2·87 [95% CI 2·15-3·82]; p=1·73 × 10).
INTERPRETATION
We have found several additional loci associated with giant cell arteritis, highlighting the crucial role of angiogenesis in disease susceptibility. Our study represents a step forward in the translation of genomic findings to clinical practice in giant cell arteritis, proposing new treatments and a method to measure genetic predisposition to this vasculitis.
FUNDING
Institute of Health Carlos III, Spanish Ministry of Science and Innovation, UK Medical Research Council, and National Institute for Health and Care Research.
Topics: Giant Cell Arteritis; Humans; Genome-Wide Association Study; Genetic Predisposition to Disease; Genetic Loci; Female; Male; Aged; Polymorphism, Single Nucleotide; Middle Aged; Case-Control Studies
PubMed: 38734017
DOI: 10.1016/S2665-9913(24)00064-X -
Rheumatology Advances in Practice 2024
PubMed: 38725437
DOI: 10.1093/rap/rkae054 -
Cureus Apr 2024Giant cell arteritis (GCA) is a form of vasculitis characterized by symptoms that often lead a patient to consult a general dentist. Its rarity in the dental setting and...
Giant cell arteritis (GCA) is a form of vasculitis characterized by symptoms that often lead a patient to consult a general dentist. Its rarity in the dental setting and serious life-altering effects make it a formidable diagnosis. We discuss a case of a 60-year-old female with GCA presenting with primary symptoms of excruciating tooth and jaw pain on the left side. We also report secondary symptoms of headache and partial vision loss and engage in a review of the relevant literature. Jaw pain, unexplained toothache, or tissue necrosis in patients aged over 50 years can be misdiagnosed as joint arthritis or temporomandibular disease (TMD), which could lead to severe consequences. Accurately diagnosing this ophthalmic emergency is critical for implementing therapy promptly and preventing ischemic complications. Dentists should maintain a high index of suspicion about its signs and symptoms, which will aid in making an early diagnosis and prompt referral.
PubMed: 38721222
DOI: 10.7759/cureus.57836