History of pre-eclampsia does not appear to be a risk factor for vascular phenotype in women with systemic sclerosis.

BACKGROUND: Vascular phenotype is associated with a poor prognosis in systemic sclerosis (SSc). The identification of its risk factors could facilitate its early detection. OBJECTIVES: To explore risk factors for a vascular phenotype of SSc, among them a history of pre-eclampsia. METHODS: This observational multicentre case-control study enrolled adult women fulfilling European Alliance of Associations for Rheumatology 2013 diagnosis criteria for SSc and having a pregnancy history≥6 months before SSc diagnosis in 14 French hospital-based recruiting centres from July 2020 to July 2022. Cases had specific vascular complications of SSc defined as history of digital ischaemic ulcers, pulmonary arterial hypertension, specific cardiac involvement or renal crisis. Women with SSc were included during their annual follow-up visit and filled in a self-administered questionnaire about pregnancy. A case report form was completed by their physician, reporting data on medical history, physical examination, clinical investigations and current medication. The main outcome was the presence/absence of a personal history of pre-eclampsia before SSc diagnosis, according to the validated pre-eclampsia questionnaire. RESULTS: 378 women were included: 129 cases with a vascular phenotype and 249 matched controls. A history of pre-eclampsia was reported in 5 (3.9%) cases and 12 (4.8%) controls and was not associated with a vascular phenotype (OR=0.96, 95% CI 0.28 to 3.34, p=0.9). Besides, Rodnan skin score and disease duration≥5 years were risk factors for vascular phenotype. CONCLUSIONS: In women with SSc and a pregnancy history≥6 months before SSc, a history of pre-eclampsia is not associated with a vascular phenotype.

Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients.

OBJECTIVE: A new adult-onset autoinflammatory syndrome has been described, named VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic). We aimed to compare the clinical characteristics, the laboratory features and the outcomes between idiopathic-relapsing polychondritis (I-RP) and VEXAS-relapsing polychondritis (VEXAS-RP). METHODS: Patients from French retrospective multicentre cohort of RP were separated into two groups: a VEXAS-RP and an I-RP. RESULTS: Compared with patients with I-RP (n=40), patients with VEXAS-RP (n=55) were men (96% vs 30%, p<0.001) and were older at diagnosis (66 vs 44 years, p<0.001). They had a greater prevalence of fever (60% vs 10%, p<0.001), of skin lesions (82% vs 20%, p<0.001), of ocular involvement (57% vs 28%, p=0.01), of pulmonary infiltrates (46% vs 0%, p<0.001), of heart involvement (11% vs 0%, p=0.0336) and with higher median C-reactive protein levels (64 mg/L vs 10 mg/L, p<0.001). Seventy-five per cent of the patients with VEXAS-RP had myelodysplastic syndrome (MDS) versus none in I-RP group. The glucocorticoids use, and the number of steroid sparing agents were similar in both groups, but patients with VEXAS-RP had more frequent refractory disease (remission obtained in 27% vs 90%, p<0001). VEXAS-RP was associated with higher risk of death: six patients (11%) died in the VEXAS-RP group after a median follow-up of 37 months and none in the I-RP group after a median follow-up of 92 months (p<0.05). CONCLUSION: We report the largest cohort of VEXAS-RP, characterised by high prevalence of male sex, fever, skin lesion, ocular involvement, pulmonary infiltration, heart involvement, older age and MDS association.

[Autoimmune hemolytic anemias]. / Anémies hémolytiques auto-immunes.

Autoimmune hemolytic anemias. Autoimmune hemolytic anemias (AIHA) are a rare cause of acquired hemolytic anemia, linked to the presence of an autoantibody directed against one or more antigens expressed on the surface of the red blood cell and certified by a positive direct antiglobulin test (DAT). AIHA can be non regenerative (10-20% of cases) and DAT may be negative (5% of cases). There are two main forms: warm antibodies AIHA (IgG positive TDA +/- C3d) and cold antibodies AIHA (C3d positive TDA), which differ in their underlying causes and treatment. Warm antibodies AIHA are in 50% of cases associated to B-cell chronic lymphoid leukemia, variable common immune deficiency, systemic lupus or drug; the treatment is based on short corticosteroid therapy (3 to 6 months) and rituximab is the 2nd line treatment. Cold antibodies AIHA are of two types: either post-infectious (mycoplasma, EBV), or linked to cold agglutinin disease that is indolent B clonal hemopathy; the treatment is primarily symptomatic and relies on cold protection measures. Corticosteroid therapy and splenectomy are ineffective. In cases of severe anemia, treatment with rituximab alone or in combination with chemotherapy is indicated.

Anemies hemolytiques auto-immunes. Les anémies hémolytiques auto-immunes sont une cause rare d'anémie hémolytique acquise, liée à la présence d'un auto-anticorps dirigé contre un ou plusieurs antigènes exprimé(s) à la surface du globule rouge et le plus souvent attestée par un test direct à l'antiglobuline (TDA) positif. Rarement, les anémies hémolytiques auto-immunes peuvent être arégénératives (10- 20 % des cas), et le TDA peut être négatif (5 % des cas). On en distingue deux formes principales : les anémies hémolytiques auto- immunes à anticorps chauds (TDA positif de type IgG +/- C3d) et les anémies hémolytiques auto-immunes à anticorps froids (TDA positif de type C3d), qui diffèrent par leurs causes sous-jacentes et par leur traitement. Les anémies hémolytiques auto-immunes à anticorps chauds sont dans 50 % des cas « secondaires ¼ à une hémopathie lymphoïde B, un déficit immunitaire commun variable, un lupus systémique, ou induites par un médicament ; le traitement repose sur une corticothérapie courte (3 à 6 mois), et le rituximab est le traitement de 2e ligne. Les anémies hémolytiques auto-immunes à anticorps froids sont de deux types : soit postinfectieuses (mycoplasme, virus d'Epstein-Barr), soit liées à une maladie des agglutinines froides, qui est une hémopathie clonale B indolente ; le traitement est avant tout symptomatique et repose sur les mesures de protection vis-à-vis du froid. La corticothérapie et la splénectomie sont inefficaces. En cas d'anémie marquée, un traitement par rituximab seul ou combiné à une chimiothérapie est indiqué.

[Fabry disease]. / Maladie de Fabry.

Fabry disease. Fabry disease is an X-linked disorder in which lysosomal alpha-galactosidase A is lacking, leading to enzyme-substrate accumulation and tissues dysfunction. Acroparesthesia, angiokeratoma, familial nephropathy or hypertrophic cardiomyopathy should suggest Fabry disease. Enzymatic assay allows diagnosis in men but genetic assay is needed for women. Enzyme replacement therapy is available since 2001 and a pharmacologic chaperone since 2016.

Maladie de Fabry. La maladie de Fabry est une maladie rare, monogénique, liée à l'X, où un déficit enzymatique en alpha-galactosidase A lysosomale provoque l'accumulation intracellulaire de son substrat à l'origine de dysfonctions d'organe. On doit l'évoquer aussi bien chez l'homme que chez la femme, en particulier devant des acroparesthésies à électropyogramme normal, des angiokératomes, une insuffisance rénale familiale ou une cardiopathie hypertrophique possiblement isolée et sans obstacle à l'éjection. Le diagnostic se fait par dosage enzymatique chez l'homme et par analyse génétique chez la femme. Trois traitements sont disponibles : deux enzymothérapies substitutives depuis 2001, une molécule chaperon depuis 2016.

Efficacy of Anti-TNFα in Severe and Refractory Neuro-Behcet Disease: An Observational Study.

To report the safety and efficacy of anti-tumor necrosis factor α (TNFα) therapy in severe and refractory neuro-Behçet disease (NBD) patients.Observational, multicenter study including 17 BD patients (70.6% of male, with a median age of 39.3 [24-60] years), with symptomatic parenchymal NBD, refractory to previous immunosuppressant and treated with anti-TNFα (infliximab 5 mg/kg [n = 13] or adalimumab [n = 4]). Complete remission was defined by the disappearance of all neurological symptoms and by the improvement of radiological abnormalities at 12 months.Overall improvement following anti-TNF was evidenced in 16/17 (94.1%) patients including 6 (35.3%) complete response and 10 (58.8%) partial response. The median time to achieve remission was 3 months (1-6). The median Rankin score was 2 (1-4) at the initiation of anti-TNFα versus 1 (0-4) at the time of remission (P = 0.01). Corticosteroids have been stopped in 4 (23.5%) patients, and reduced by more than 50% as compared with the dosage at baseline in 10 (58.8%) patients. Side effects occurred in 23.5% of patients and required treatment discontinuation in 17% of cases.TNF blockade represents an effective therapeutic approach for patients with severe and refractory NBD, a difficult to treat population.

Melioidosis in a European traveler without comorbidities: a case report and literature review.

Melioidosis is an endemic disease in Southeast Asia and northern Australia. It habitually affects immune-depressed hosts and may have a wide range of clinical manifestations. The use of positron emission tomography-computed tomography (PET-CT) has not been described previously for this disease. We report the case of a European traveler without comorbidities who developed melioidosis with pulmonary and bone marrow involvement 1 year after exposure. Antibiotic treatment was managed by taking into account the evolution on PET-CT. We review the literature and suggest the use of PET-CT for the initial evaluation of melioidosis, especially to look for a bone location, and to manage the length of antibiotic therapy.