Publications by authors named "Achille Aouba"
Systemic lupus erythematosus (SLE) is an autoimmune disease whose pathophysiology remains incompletely understood, involving genetic and epigenetic factors. However, an increasing small subset of patients present with monogenic lupus, providing insight into the pathogenesis of the disease. This systematic review focuses on SLE associated with A20 haploinsufficiency (HA20), a monogenic disorder associated with tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3) variants.
View Article and Find Full Text PDFBackground And Aims: Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the effect of various vasodilator treatments.
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- - The study investigates how serum levels of ceruloplasmin, an inhibitor of myeloperoxidase, affect the prognosis of patients with anti-MPO antibody-positive anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV).
- - It analyzed data from 92 patients, revealing that those with lower ceruloplasmin levels had a significantly higher death rate (40% vs. 12%) during a median follow-up of 40 months.
- - The findings suggest that ceruloplasmin levels at diagnosis could be an important marker for survival in patients with anti-MPO AAV, while similar analyses in anti-PR3 antibody patients showed no differences.
Article Synopsis
- ApoE mice serve as a model for studying atherosclerosis, with a focus on the effects of a Western diet and uremia.
- Five groups of mice were analyzed based on their diet and kidney conditions, and various imaging and histological methods were utilized to assess atherosclerosis.
- While immunostaining revealed greater inflammation in ApoE mice compared to control mice, with a Western diet showing stronger effects, F-FDG PET-MR imaging did not indicate any increased glucose uptake in the aortas of the different ApoE groups.
Objectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.
Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.
Seventy-seven patients with antiphospholipid syndrome were tested for autoantibodies against C1q, C3, FB, FH, and C4bp. Fifty-seven patients had at least one anti-complement antibody. IgM anti-FH positivity was associated with thrombosis when anti-C3 and anti-FB were, negatively or positively, associated with various noncriteria manifestations of antiphospholipid syndrome.
View Article and Find Full Text PDFIntroduction: Idiopathic Multicentric Castleman Disease (iMCD) is a complex and poorly understood pathophysiological entity, which encompasses a variety of conditions and can mimic or be associated with autoimmune/autoinflammatory diseases, making it challenging to diagnose and treat. Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder associated with hematological abnormalities and caused by acquired somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene (UBA1) which shares several common clinical and biological signs with iMCD. In this article, we report a patient with VEXAS syndrome initially presenting as iMCD, questioning the link between these two entities.
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- The study aimed to identify factors contributing to the progression of aortic dilations in patients with giant cell arteritis (GCA).
- Among 47 analyzed patients, 28% experienced fast-progressive aortic dilations, while 34% had slow-progressive and 38% were not progressive, with no significant differences in baseline characteristics across these groups.
- Fast-progressive patients were more likely to have atheromatous disease and used statins and antiplatelet agents more frequently; inflammation in the aorta was linked to dilation in the majority of patients with GCA-related aortitis.
Background And Aims: Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver SM using updated tools.
View Article and Find Full Text PDFObjectives: To assess the frequency and characteristics of severe relapse in patients with giant cell arteritis (GCA) in a real-life setting.
Methods: In a monocentric database of 530 patients, we retrospectively analysed patients who experienced at least one relapse and distinguished severe from nonsevere relapses. Severe relapse was defined by the occurrence of an ischaemic event (ophthalmologic, neurologic, digestive, limb ischaemia), the occurrence of an aortic complication (i.
Introduction: This study aimed to provide an updated analysis of the different prognostic trajectories of patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibodies.
Methods: Among a cohort of 70 patients, baseline characteristics and phenotypes, treatments and outcomes were analyzed. A Cox proportional hazards model was used to identify factors associated with poor outcomes, i.
Article Synopsis
- VEXAS syndrome is a poorly understood, acquired autoinflammatory disease linked to serious infections, highlighting significant risks for susceptible patients.
- A study of 74 patients revealed that the most frequent infection sites were the lungs, skin, and urinary tract, with a notable microbiological confirmation rate.
- Key risk factors for serious infections included age over 75, specific genetic mutations, and treatment with JAK inhibitors, with 36% of patients dying during the study, often due to these severe infections.
Background: Metabolic imaging is routinely used to demonstrate aortitis in patients with giant-cell arteritis. We aimed to investigate the preclinical model of aortitis in BALB/c IL1rn mice using [F]fluorodeoxyglucose ([F]FDG) positron emission tomography-magnetic resonance (PET-MR), gamma counting and immunostaining. We used 15 first-generation specific and opportunistic pathogen-free (SOPF) 9-week-old IL1rn mice, 15 wild-type BALB/cAnN mice and 5 s-generation specific pathogen-free (SPF) 9-week-old IL1rn.
View Article and Find Full Text PDFTo determine how therapeutic strategies for giant cell arteritis (GCA), especially glucocorticoid (GC) management, evolved between 2014 and 2020. Consecutive GCA patients followed for at least 24 months in a single tertiary center were enrolled and separated into two groups: those diagnosed from 2014 to 2017 and those diagnosed from 2018 to 2020. GC doses (mg/kg/day) were analyzed at onset, at Month 3 (M3) and, if continued, at M6, M12, M18 and M24.
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- The study aimed to determine which clinical and radiological features are linked to positive CNS biopsies in patients suspected of having primary angiitis of the central nervous system (PACNS).
- Out of 200 patients with PACNS, 100 underwent biopsies, with 61% returning positive; factors like being female, having seizures or cognitive impairment, and specific imaging findings were associated with positive results.
- The findings suggest that certain characteristics can aid doctors in deciding whether or not to perform a CNS biopsy for suspected PACNS cases.
Article Synopsis
- A study was conducted to investigate the characteristics and outcomes of ANCA-associated vasculitis (AAV) caused by anti-thyroid drugs (ATDs), specifically focusing on microscopic polyangiitis (MPA).
- The research included 45 patients with ATD-induced AAV, and it was found that most had positive ANCA results, with skin complications and joint pain being the primary symptoms.
- Compared to primary MPA, ATD-induced MPA patients were younger, had more skin problems and fewer kidney issues, and experienced a lower risk of disease relapse after treatment.
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in , the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of truncating variations is clearly established, that of missense variations is difficult to determine.
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- A study compared two ways of giving a medicine called tocilizumab to patients with a disease called Takayasu arteritis (TAK).
- They looked at 109 patients from different countries and found that both methods worked similarly well after 6 months, with about 69% showing improvement.
- However, patients who got tocilizumab as a shot under the skin had a higher chance of getting worse again compared to those who received it through an IV.
Objectives: To assess the indications, efficiency and tolerance profiles of methotrexate (MTX) in patients with giant cell arteritis (GCA) in a real-life setting.
Methods: From a monocentric database of >500 GCA patients, we retrospectively selected 49 patients who received MTX between 2010 and 2020. Cumulative glucocorticoid (GC) doses, the number of relapses and GC-related adverse events were recorded before, during and after MTX.
Introduction: ANCA-associated vasculitis (AAV) is an exceptional cause of small and large vascular aneurysms. Here, we present the phenotypic characteristics of patients with AAV associated with the presence of aneurysms.
Methods: We conducted a retrospective multicenter study and a systematic review of the literature.
Background: Primary angiitis of the central nervous system (PACNS) is a rare disease, for which no validated guidelines exist. We report the findings of a survey on the clinical practice of physicians who manage adults with PACNS.
Methods: An online survey was distributed through neurology, internal medicine, and rheumatology societies in Canada and Europe.