Urinary incontinence in systemic sclerosis: a prospective multicentre cohort study.

Investigate the natural history of urinary incontinence (UI) in systemic sclerosis (SSc) and assess its impact on quality of life (QoL). A longitudinal, international observational study followed 189 patients with SSc for a median duration of 5 years (IQR: 4.8-5.3). Presence, subtype and severity of UI, hospital admission and QoL were assessed using serial self-administered questionnaires. Mortality data came from national death registries. Multilevel mixed-effect logistic regressions explored factors associated with UI. Cox models adjusted the effects of UI on hospitalization and death for age, sex and subtype of SSc. Mean annual rates of new-onset UI and remission were 16.3% (95%CI 8.3%-24.2%) and 20.8% (95%CI 12.6-29.1), respectively. Among UI patients, 57.9% (95%CI 51.8-64.0) changed from one UI subtype to another. Between annual questionnaires, the severity of UI was the same in 51.1% (95%CI 40.8-61.4), milder or resolved in 35.2% (95%CI 25.3-44.9), and worse in 13.8% (95%CI 6.7-20.9). Anti-centromere antibodies, digestive symptoms, sex, age, neurological or urological comorbidities, diuretics and puffy fingers were all associated with UI. The two strongest predictors of UI and UI subtypes were a recent UI episode and the subtype of previous leakage episodes. UI at inclusion was not associated with hospital admission (adjusted HR: 1.86; 95%CI 0.88-3.93), time to death (aHR: 0.84; 95%CI 0.41-1.73) or change in QoL over time. Self-reported UI among SSc patients is highly dynamic: it waxes and wanes, changing from one subtype to another over time.

[VEXAS syndrome : when do we have to consider it ?] / Syndrome VEXAS : quand y penser ?

VEXAS syndrome was recently discovered in patients who developed late in adulthood an inflammatory syndrome with fever, cytopenias, dysplastic bone marrow, cutaneous and pulmonary neutrophilic inflammation, arthritis, chondritis, or vasculitis. It is the result of an inactivating somatic mutation affecting methionine codon 41 of the UBA1 gene which encodes an ubiquitin activating enzyme (E1). Systemic corticosteroids generally reduce symptoms, while other immunosuppressive drugs only have limited long-term effects. Azacitidine is a promising treatment, but further studies are warranted. Here, we describe 2 new cases including one associated with pyoderma gangrenosum and cryoglobulinemia.

Le syndrome VEXAS (Vacuoles, E1 Enzyme, X-Linked, Auto- Inflammatory, Somatic Syndrome) a été récemment découvert chez des patients développant tardivement à l'âge adulte un syndrome inflammatoire associé à de la fièvre, des cytopénies, une moelle osseuse dysplasique, une inflammation neutrophilique cutanée et pulmonaire, des arthrites, des chondrites ou des vasculites. Il est le résultat d'une mutation somatique inactivatrice affectant le codon méthionine 41 du gène UBA1 qui encode une enzyme E1 activant l'ubiquitine. Les corticostéroïdes systémiques permettent généralement de diminuer les symptômes alors que les autres immunosuppresseurs ont un effet limité à long terme. L'azacitidine est l'un des traitements ayant démontré une efficacité, cependant de nouvelles études sont souhaitables. Nous décrivons ici 2 cas dont l'un est associé à un pyoderma gangrenosum et une cryoglobulinémie.

Prevalence of large vessel vasculitis in ANCA-associated vasculitis: a retrospective cohort study.

ANCA-associated vasculitis (AAV) in general involves small blood vessels and includes granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA). Although reported in a few studies, the prevalence of large vessel vasculitis (LVV) in patients with AAV remains to be further explored. The goal of the present study was to assess the prevalence of LVV in a cohort of patients with AAV and to characterize this population. We conducted a ten-year retrospective study of a single-center cohort of AAV, including 101 patients with GPA (n = 58), EGPA (n = 28), MPA (n = 15), and compared the groups with or without associated LVV. LVV was diagnosed in five patients, two with aortitis and three with temporal arteritis, corresponding to a total prevalence of 5.0% [95% CI 1.6-11.2%]. This value was significantly higher than the estimated prevalence of LVV in the normal Swiss population (OR 234.9 95% CI 91.18-605.2, p < 0.001). All five patients had GPA, whereas no cases with EGPA or MPA were identified. Anti-PR3 antibodies were detected in four out of five patients, anti-MPO in one patient. Since LVV can occur in a significant proportion of patients with GPA, evaluation for LVV may be considered systematically in the diagnostic workup of AAV.

[Egg allergy in children and adults]. / Allergie aux œufs chez l'enfant et l'adulte.

Hen's egg allergy is the second major cause of food allergy in children and is rare in adults. It can present with diverse and sometimes severe symptoms that can be challenging for patients and clinicians. Allergy history represents the main diagnostic tool, and can be completed with skin tests, specific IgE testing and in selected cases with an oral challenge test. All patients with egg anaphylaxis should benefit from an emergency kit in case of reaction and specialized allergologic evaluation. Strict eviction of eggs can be difficult to achieve because of hidden allergens. For safety purpose, an oral tolerance induction is helpful selected patients. A pre-vaccination assessment is required in rare selected cases.

L'allergie aux œufs représente la deuxième cause d'allergie alimentaire la plus fréquente chez le jeune enfant mais elle est nettement plus rare chez l'adulte. Ses manifestations diverses et parfois graves représentent un défi pour les patients et le clinicien. L'outil diagnostique principal est l'histoire clinique, suivi si nécessaire par des tests cutanés, le dosage des immunoglobulines E spécifiques et/ou un test de provocation. Les patients présentant une anaphylaxie doivent être équipés d'une trousse d'urgence et adressés au spécialiste. L'éviction stricte des œufs est indiquée mais peut être difficile à respecter en raison des allergènes cachés. Une induction de tolérance orale chez des patients sélectionnés offre la perspective future d'une meilleure sécurité au quotidien. Un bilan avant vaccination est requis dans de rares cas sélectionnés.

[IgG4 related disease†: the Geneva experience​]. / Maladie à IgG4†: l'expérience genevoise.

IgG4-related disease is a fibroinflammatory pathology which gathers several disorders with common histological, serological and clinical features. The disease usually manifests itself as a diffuse or localized enlargement of one or several organs that reveals upon histology a dense lymphoplasmatic infiltrate with IgG4 positive plasma cells, a storiform fibrosis and obliterative phlebitis. Serum IgG4 are often but not always increased. Diagnostic criterias were published in 2011. Lesions caused by the disease might become irreversible without treatment. Currently, glucocorticoids are the first line of treatment. However, other immunosuppressants such as rituximab are sometimes used.

La maladie à IgG4 est une pathologie fibro-inflammatoire regroupant un ensemble de troubles aux caractéristiques histologiques, sérologiques et cliniques communes. Elle se manifeste généralement par une hypertrophie localisée ou diffuse d'un ou plusieurs organes dont la biopsie montre un infiltrat lymphoplasmocytaire riche en plasmocytes IgG4+, une fibrose storiforme et une phlébite oblitérante. Les IgG4 sériques sont souvent mais pas toujours augmentées. Des critères diagnostiques ont été publiés en 2011. Ses atteintes peuvent être irréversibles en l'absence de traitement. Actuellement, les glucocorticoïdes constituent la thérapie de premier choix. Cependant, d'autres immunosuppresseurs tels que le rituximab sont parfois employés.

[Livedo : physiopathology and diagnosis]. / Le livedo : physiopathologie et diagnostic.

The livedo is a purplish erythema forming more or less regular mesh on the skin. This phenomenon is caused by blood deoxygenation and stasis in the dermal venules. It is important to differentiate between a benign form, usually associated with cold exposure, and a secondary form necessitating further investigations of an underlying disease. The purpose of this article is to discuss the pathophysiology and causes of this phenomenon. Treatment is not covered in this article because of its complex and often multidisciplinary approach.

Le livedo est un érythème violacé formant des mailles plus ou moins marquées et régulières sur la peau. Il s'agit d'un phénomène causé par une désoxygénation et une stase au niveau des veinules dermiques. Lors de son apparition, il est important de différencier une forme bénigne, souvent liée à l'exposition au froid, d'une forme pathologique qui peut être le premier signe d'une maladie sous-jacente qu'il convient de rechercher. Le but de cet article est de discuter de la physiopathologie et des causes de ce phénomène. La prise en charge thérapeutique n'est pas traitée dans cet article en raison de son caractère complexe et souvent multidisciplinaire en cas d'origine secondaire.

[Allergology and clinical immunology]. / Allergologie et immunologie clinique.

Hereditary angioedema (HA) is a disabling and potentially fatal condition. The management of HA includes treatment of acute attacks, short-term prophylaxis to prevent an attack, and long-term prophylaxis to minimize the frequency and severity of recurrent attacks. In this article, we will present new therapeutic alternatives for long term prophylaxis. Glucocorticoids (GC) usage leads to a number of severe side-effects. In giant cell arteritis, the use of tocilizumab in conjunction with low doses of GC reduces the number of relapses. In ANCA-associated vasculitis the use of an anti-C5R (avacopan) alone or in conjunction with low doses of GC results in similar remission rates to those induced by high dose GC.

L'angiœdème héréditaire (AH) est une maladie invalidante et potentiellement mortelle. La prise en charge de l'AH comprend le traitement des crises aiguës, la prophylaxie à court terme pour prévenir une attaque et la prophylaxie à long terme pour minimiser la fréquence et la gravité des crises récurrentes. Nous discutons les nouvelles alternatives thérapeutiques pour la prophylaxie à long terme. L'utilisation des glucocorticoïdes (GC) est grevée d'effets secondaires multiples et graves. Dans l'artérite gigantocellulaire l'adjonction d'un anti-IL6 à des doses faibles de GC a permis de réduire le nombre de rechutes. Dans les vascularites à ANCA, un anti-C5R (avacopan) a permis de réduire la quantité de GC nécessaire pour atteindrela rémission.

[Benefits of gluten-free diet: myth or reality?]. / Benfaits du régime sans gluten: mythe ou réalité?

Non celiac gluten sensitivity may explain digestive and general symptoms in patients without celiac disease but this recently described entity is controversial. The role of gluten in comparison to other nutriments such as saccharides and polyols (FODMAPs) remains debated. If a gluten-free diet is clearly indicated in celiac disease and wheat allergy, it remains debatable in non-celiac gluten sensitivity given weak and contradictory evidence. There is no strong evidence for a strict indication to a gluten-free diet in endocrinological, psychiatric, and rheumatologic diseases, or to improve performance in elite sports.

A severe case of rhabdomyolysis after Moderna mRNA anti-COVID-19 vaccine with a literature review.

The identification of rhabdomyolysis as a potential fatal adverse reaction to recent COVID-19 vaccines is essential. As the symptoms of rhabdomyolysis are not specific, the threshold to actively search for this complication should be low.