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Orphanet Journal of Rare Diseases May 2020The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The...
BACKGROUND
The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reuma.pt, is a web-based electronic clinical record, created in 2008, which currently includes specific modules for 12 diseases and > 20,000 patients registered from 79 rheumatology centres. On October 2014, a dedicated module for vasculitis was created as part of the European Vasculitis Society collaborative network, enabling prospective collection and central storage of encrypted data from patients with this condition. All Portuguese rheumatology centres were invited to participate. Data regarding demographics, diagnosis, classification criteria, assessment tools, and treatment were collected. We aim to describe the structure of Reuma.pt/vasculitis and characterize the patients registered since its development.
RESULTS
A total of 687 patients, with 1945 visits, from 13 centres were registered; mean age was 53.4 ± 19.3 years at last visit and 68.7% were females. The most common diagnoses were Behçet's disease (BD) (42.5%) and giant cell arteritis (GCA) (17.8%). Patients with BD met the International Study Group criteria and the International Criteria for BD in 85.3 and 97.2% of cases, respectively. Within the most common small- and medium-vessel vasculitides registered, median [interquartile range] Birmingham Vasculitis Activity Score (BVAS) at first visit was highest in patients with ANCA-associated vasculitis (AAV) (17.0 [12.0]); there were no differences in the proportion of patients with AAV or polyarteritis nodosa who relapsed (BVAS≥1) or had a major relapse (≥1 major BVAS item) during prospective assessment (p = 1.00, p = 0.479). Biologic treatment was prescribed in 0.8% of patients with GCA, 26.7% of patients with AAV, and 7.6% of patients with BD. There were 34 (4.9%) deaths reported.
CONCLUSIONS
Reuma.pt/vasculitis is a bespoke web-based registry adapted for routine care of patients with this form of rare and complex diseases, allowing an efficient data-repository at a national level with the potential to link with other international databases. It facilitates research, trials recruitment, service planning and benchmarking.
Topics: Adult; Aged; Female; Humans; Male; Middle Aged; Portugal; Prospective Studies; Registries; Rheumatic Diseases; Vasculitis
PubMed: 32370776
DOI: 10.1186/s13023-020-01381-0 -
Clinical Immunology (Orlando, Fla.) Jun 2020Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that predominantly affects medium-sized arteries. With the establishment and refinement of vasculitis... (Review)
Review
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that predominantly affects medium-sized arteries. With the establishment and refinement of vasculitis nomenclature and diagnostic criteria, clinical findings of PAN and distinguishing features from other vasculitides are now well characterized. Although PAN typically manifests in adulthood, cohort studies in paediatric patients have shaped our understanding of childhood-onset PAN. The paradigm of childhood-onset PAN changed considerably with the landmark discovery of deficiency of ADA2 (DADA2), a monogenic cause of vasculitis that is often indistinguishable from PAN. Testing for DADA2 has provided an explanation to numerous challenging cases of familial PAN and early-onset PAN around the world. The ability to distinguish DADA2 from classic PAN have important therapeutic implications as tumor necrosis factor inhibitors have demonstrated remarkable efficacy in the treatment of DADA2. In this review, we will discuss our current understanding of PAN and DADA2 and highlight similarities and differences between these vasculitides.
Topics: Adenosine Deaminase; Humans; Polyarteritis Nodosa; Tumor Necrosis Factor-alpha
PubMed: 32276138
DOI: 10.1016/j.clim.2020.108411 -
Europace : European Pacing,... Mar 2023The underlying mechanisms of atrial fibrillation (AF) are largely unknown. Inflammation may underlie atrial remodelling. Autoimmune diseases, related to increased...
AIMS
The underlying mechanisms of atrial fibrillation (AF) are largely unknown. Inflammation may underlie atrial remodelling. Autoimmune diseases, related to increased systemic inflammation, may therefore be associated with new-onset AF.
METHODS AND RESULTS
Participants from the population-based UK Biobank were screened for rheumatic fever, gastrointestinal autoimmune diseases, autoimmune diseases targeting the musculoskeletal system and connective tissues, and neurological autoimmune diseases. Between 2006 and 2022, participants were followed for incident AF. Cox proportional hazards regression analyses were performed to calculate hazard ratios (HRs) and 95% confidence intervals (CIs) to quantify associations. 494 072 participants free from AF were included (median age 58.0 years, 54.8% women). After a median of 12.8 years, 27 194 (5.5%) participants were diagnosed with new-onset AF. Rheumatic fever without heart involvement (HR, 95% CI: 1.47, 1.26-1.72), Crohn's disease (1.23, 1.05-1.45), ulcerative colitis (1.17, 1.06-1.31), rheumatoid arthritis (1.39, 1.28-1.51), polyarteritis nodosa (1.82, 1.04-3.09), systemic lupus erythematosus (1.82, 1.41-2.35), and systemic sclerosis (2.32, 1.57-3.44) were associated with a larger AF risk. In sex-stratified analyses, rheumatic fever without heart involvement, multiple sclerosis, Crohn's disease, seropositive rheumatoid arthritis, psoriatic and enteropathic arthropathies, systemic sclerosis and ankylosing spondylitis were associated with larger AF risk in women, whereas only men showed a larger AF risk associated with ulcerative colitis.
CONCLUSIONS
Various autoimmune diseases are associated with new-onset AF, more distinct in women. Our findings elaborate on the pathophysiological differences in autoimmunity and AF risk between men and women.
Topics: Male; Humans; Female; Middle Aged; Atrial Fibrillation; Crohn Disease; Colitis, Ulcerative; Rheumatic Fever; Biological Specimen Banks; Autoimmune Diseases; Inflammation; Scleroderma, Systemic; United Kingdom; Risk Factors; Incidence
PubMed: 36546587
DOI: 10.1093/europace/euac244 -
Medicina (Kaunas, Lithuania) Aug 2020Background and Objectives Over the last years, inflammatory bowel disease (IBD) has been reported on a high incidence in pediatric populations and has been associated...
UNLABELLED
Background and Objectives Over the last years, inflammatory bowel disease (IBD) has been reported on a high incidence in pediatric populations and has been associated with numerous extraintestinal manifestations, making its management a real challenge for the pediatric gastroenterologist. Dermatological manifestations in IBD are either specific, related to the disease activity or treatment-associated, or non-specific. This literature review aims to identify and report the dermatological manifestations of IBD in children, the correlation between their appearance and the demographical characteristics, the relationship between these lesions and disease activity, and to highlight the impact of dermatological manifestations on an IBD treatment regime.
MATERIALS AND METHODS
A systemic literature review was performed, investigating articles and case reports on dermatological manifestations in children with IBD starting from 2005. A total of 159 potentially suitable articles were identified and after the exclusion process, 75 articles were selected.
RESULTS
The most common dermatological manifestations reported in pediatric IBD are erythema nodosum and pyoderma gangrenosum. More rare cases of metastatic Crohn's disease, epidermolysis bullosa acquisita, small-vessel vasculitis, necrotizing vasculitis, leukocytoclastic vasculitis, cutaneous polyarteritis nodosa, and Sweet's syndrome have been reported. Oral manifestations of IBD are divided into specific (tag-like lesions, mucogingivitis, lip swelling with vertical fissures, aphthous stomatitis, and pyostomatitis vegetans) and non-specific. IBD treatment may present with side effects involving the skin and mucosa. Anti-tumor necrosis factor agents have been linked to opportunistic skin infections, psoriasiform lesions, and a potentially increased risk for skin cancer. Cutaneous manifestations such as acrodermatitis enteropathica, purpuric lesions, and angular cheilitis may appear secondary to malnutrition and/or malabsorption.
CONCLUSIONS
The correct diagnosis of dermatological manifestations in pediatric IBD is of paramount importance because of their impact on disease activity, treatment options, and a patient's psychological status.
Topics: Biological Factors; Child; Colitis, Ulcerative; Crohn Disease; Humans; Immunosuppressive Agents; Malabsorption Syndromes; Receptors, Tumor Necrosis Factor; Skin Diseases
PubMed: 32842528
DOI: 10.3390/medicina56090425 -
Frontiers in Immunology 2021The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first... (Observational Study)
Observational Study
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa in 2014. It is now recognized that patients may develop multisystem disease that spans multiple medical subspecialties. Here, we describe the findings from a large single center longitudinal cohort of 60 patients, the broad phenotypic presentation, as well as highlight the cohort's experience with hematopoietic cell transplantation and COVID-19. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic, however, most patients presented with significant overlap between these three phenotype groups. The cardinal features of the inflammatory/vascular group included cutaneous manifestations and stroke. Evidence of immune dysregulation was commonly observed, including hypogammaglobulinemia, absent to low class-switched memory B cells, and inadequate response to vaccination. Despite these findings, infectious complications were exceedingly rare in this cohort. Hematologic findings including pure red cell aplasia (PRCA), immune-mediated neutropenia, and pancytopenia were observed in half of patients. We significantly extended our experience using anti-TNF agents, with no strokes observed in 2026 patient months on TNF inhibitors. Meanwhile, hematologic and immune features had a more varied response to anti-TNF therapy. Six patients received a total of 10 allogeneic hematopoietic cell transplant (HCT) procedures, with secondary graft failure necessitating repeat HCTs in three patients, as well as unplanned donor cell infusions to avoid graft rejection. All transplanted patients had been on anti-TNF agents prior to HCT and received varying degrees of reduced-intensity or non-myeloablative conditioning. All transplanted patients are still alive and have discontinued anti-TNF therapy. The long-term follow up afforded by this large single-center study underscores the clinical heterogeneity of DADA2 and the potential for phenotypes to evolve in any individual patient.
Topics: Adenosine Deaminase; Adolescent; Adult; Aged; COVID-19; Child; Child, Preschool; Cohort Studies; Female; Hematopoietic Stem Cell Transplantation; Humans; Infant; Intercellular Signaling Peptides and Proteins; Longitudinal Studies; Male; Middle Aged; Tumor Necrosis Factor Inhibitors; Young Adult
PubMed: 35095905
DOI: 10.3389/fimmu.2021.811473 -
Cureus Oct 2023Polyarteritis nodosa (PAN) is a rare systemic vasculitis characterised by necrotising inflammation of medium-sized arteries. PAN can affect patients of any age, gender,...
Polyarteritis nodosa (PAN) is a rare systemic vasculitis characterised by necrotising inflammation of medium-sized arteries. PAN can affect patients of any age, gender, or ethnic background. Its highest incidence is in the fifth-sixth decade of life, with a slight male-to-female predilection. PAN can be idiopathic or secondary to a multitude of systemic conditions, such as infection, haematological malignancy, or autoinflammatory disorders. PAN has a broad spectrum of possible clinical manifestations the most common being constitutional symptoms, such as fever and myalgia. While cardiac involvement is well-described and is a common cause of mortality, it is exceedingly uncommon as the initial presentation. Below, we describe a case of a female in her 60s who presented with pericarditis as the first manifestation of PAN.
PubMed: 37822689
DOI: 10.7759/cureus.46717 -
Cureus Feb 2022Polyarteritis nodosa (PAN) is a rare form of necrotizing medium-vessel vasculitis. PAN has the potential for widespread organ involvement, but the skin, renal,...
Polyarteritis nodosa (PAN) is a rare form of necrotizing medium-vessel vasculitis. PAN has the potential for widespread organ involvement, but the skin, renal, neurologic, and musculoskeletal systems are most commonly involved. A definitive diagnosis can be made with a biopsy of an easily accessible organ such as the skin or an involved nerve or muscle. We present a case of a 66-year-old female with no significant past medical history who presented with chest and epigastric pain. She was subsequently found to have computed tomography angiography (CTA) findings consistent with PAN, including areas of arterial narrowing alternating with areas of aneurysmal dilation confined to the mesenteric arteries. A biopsy of the involved arteries was deemed unsafe and ultimately not performed. Her lab findings were remarkable for elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) and unremarkable for a broad infectious disease workup. Suspicion of PAN was further strengthened by a positive response to, and eventual full recovery on, high-dose steroids alone.
PubMed: 35273868
DOI: 10.7759/cureus.21925 -
Cureus May 2022Aneurysm of the coronary artery is an uncommon condition that is usually found incidentally. The left coronary aneurysm is the least common. We report the case of a...
Aneurysm of the coronary artery is an uncommon condition that is usually found incidentally. The left coronary aneurysm is the least common. We report the case of a young patient with a history of vasculitis who was found to have a left fusiform coronary aneurysm. This is a 20-year-old female who has a history of polyarteritis nodosa and who came due to shortness of breath associated with chest discomfort. The physical exam was only relevant for multiple joint pains and tenderness. An echocardiogram showed a possible coronary aneurysm that was confirmed on the angio-tomography. The patient was discharged without complications. The left main coronary artery aneurysm is a rare condition and the least common of the coronary aneurysms. There is no established guideline for screening and therapy of these aneurysms, but invasive methods are not a preferred method for follow-up on this condition.
PubMed: 35673313
DOI: 10.7759/cureus.24790 -
Journal of Medicine and Life Jun 2023The severity of the 2019 coronavirus disease (COVID-19) and its effects remain unpredictable. Certain factors, such as obesity, hypertension, and type 2 diabetes... (Observational Study)
Observational Study
The severity of the 2019 coronavirus disease (COVID-19) and its effects remain unpredictable. Certain factors, such as obesity, hypertension, and type 2 diabetes mellitus, may increase the severity of the disease. Rheumatology experts suggest that patients with active autoimmune conditions and controlled autoimmune diseases on immunosuppressive therapy may be at higher risk of developing severe COVID-19. In this retrospective observational study, we aimed to examine the patterns of COVID-19 in patients with underlying rheumatological diseases and their association with disease severity and hospital outcomes. A total of 34 patients with underlying rheumatological diseases who tested positive for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) by polymerase chain reaction (PCR) were included between March 2020 and April 2021 at King Fahd Hospital of the University. The study population consisted of 76.47% female and 23.53% male patients, with a mean age ranging from 20 to 40 years. Female gender (p=0.0001) and younger age (p=0.004) were associated with milder disease. The most frequent rheumatological disease was systemic lupus erythematosus (SLE) (38.24%), which was associated with a milder infection (p=0.045). Patients treated with mycophenolate mofetil (MMF) had a milder disease course (p=0.0037). Hypertension was significantly associated with severe COVID-19 disease (p=0.037). There was no significant relationship between SLE and the need for ICU admission. Patients on hydroxychloroquine and MMF tended to develop milder disease, and there was no association between the severity of the infection and the treatment with steroids.
Topics: Humans; Female; Male; Young Adult; Adult; Saudi Arabia; Diabetes Mellitus, Type 2; COVID-19; SARS-CoV-2; Lupus Erythematosus, Systemic; Autoimmune Diseases; Hypertension; Mycophenolic Acid; Rheumatic Diseases
PubMed: 37675163
DOI: 10.25122/jml-2023-0037 -
Frontiers in Medicine 2022Cutaneous polyarteritis nodosa (cPAN) was first reported by Lindberg in 1931. It has been recognized as a skin-limited vasculitis whose cutaneous histopathological... (Review)
Review
Cutaneous polyarteritis nodosa (cPAN) was first reported by Lindberg in 1931. It has been recognized as a skin-limited vasculitis whose cutaneous histopathological features are indistinguishable from those of PAN. Cutaneous arteritis (CA) was defined as a form of single-organ vasculitis in the revised Chapel Hill Classification and was recognized as the same disease as cPAN. It became known that deficiency of adenosine deaminase 2 (DADA2) cases were included in cases that had been diagnosed with CA. Because of their similarity and differences in the treatment methods, DADA2 should be considered in CA cases, especially if they are diagnosed or developed in early childhood. Cutaneous arteritis may be classified as an immune complex-mediated vasculitis. It was reported that the pathogenesis of anti-lysosomal-associated membrane protein-2 (LAMP-2) antibodies and anti-phosphatidylserine-prothrombin complex (PS/PT) antibodies as good parameters in CA. The main skin manifestations include livedo racemosa, subcutaneous nodules, and ulcers. Although CA is recognized to have a benign clinical course, it has become known that it is easy to relapse. The existence of skin ulcers upon diagnosis or sensory neuropathies was suggested to be a predictor of poor prognosis. Cutaneous arteritis with them may need to be treated with more intensive therapies.
PubMed: 36300176
DOI: 10.3389/fmed.2022.1022512