Introduction
The use of autologous haematopoietic stem cell transplantation (AHSCT) in autoimmune disease (AD) patients has increased progressively worldwide. We retrospectively analysed the ...long-term outcome of AHSCT for AD reported to the French Society for Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).
Method
All French AD patients (≥ 18 years at transplant) with a first AHSCT between 1997 and 2013 were included. Primary data were derived from the European Society for Blood and Marrow Transplantation (EBMT) registry, and additional data were obtained through a specific questionnaire designed for the study. Primary end-point was overall survival (OS). Secondary end points were progression-free survival (PFS) and non-relapse mortality (NRM).
Results
Ninety-four AD patients were included, of whom 71% suffered from rheumatologic diseases (
n
= 67, including 56 systemic sclerosis (SSc)), 16% from neurological disease (
n
= 15, including 14 multiple sclerosis (MS)) and 13% from various other AD (
n
= 12). After a median (interquartile range, IQR) follow-up of 83 months (38–130), OS at 5 and 10 years were 77% (95% CI 68.5–86.2) and 64% (95% CI 51.7–76.3), and for PFS 51% (95% CI 40.4–61.6) and 44% (95% CI 32.8–55.3), respectively. Overall, NRM was 8.7% (95% CI 4.0–15.5) at day 100, 9.8% (95% CI 4.8–16.9) at 5 years and 13.6% (95% CI 6.9–22.5) at 10 years.
Conclusions
This first SFGM-TC retrospective report shows long-term benefit of AHSCT in AD patients with acceptable toxicity.
Covid-19-Associated Retinopathy: A Case Report Gascon, Pierre; Briantais, Antoine; Bertrand, Emmanuelle ...
Ocular immunology and inflammation,
11/16/2020, 2020-Nov-16, 2020-11-16, 20201116, Volume:
28, Issue:
8
Journal Article
Peer reviewed
A 53-year-old man presented with acute loss of vision, negative scotoma and dyschromatopsia in his left eye. He reported contact with people with severe respiratory syndrome - coronavirus-2 ...(SARS-CoV-2) 8 days prior symptoms. Funduscopic examination revealed several retinal hemorrhages. Spectral-domain optical coherence tomography showed lesions consistent with acute macular neuroretinopathy and paracentral acute middle maculopathy. Quickly after his presentation, SARSCov-2 was confirmed by chest computed tomography-scan and RT-PCR in this patient. Thrombotic complications associated with Covid-19 infection have high incidence and may involve the retina. We described a case of retinal involvement associated with Covid-19 infection.
Funduscopic examination revealed retinal hemorrhages in a man with loss of vision. Optical coherence tomography showed an acute macular neuroretinopathy and paracentral acute middle maculopathy. Coronavirus disease was confirmed by chest computed tomography-scan and RT-PCR.
Objective
Temporal arteritis (TA) is a typical manifestation of giant cell arteritis (GCA). Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitides (AAVs) are rarely revealed by TA ...manifestations, leading to a risk of misdiagnosis of GCA and inappropriate treatments. This study was undertaken to describe the clinical, biologic, and histologic presentations and outcomes in cases of TA revealing AAV (TA‐AAV) compared to controls with classic GCA.
Methods
In this retrospective case–control study, the characteristics of patients with TA‐AAV were compared to those of control subjects with classic GCA. Log‐rank test, with hazard ratios (HRs) and 95% confidence intervals (95% CIs), was used to assess the risk of treatment failure.
Results
Fifty patients with TA‐AAV (median age 70 years) were included. Thirty‐three patients (66%) presented with atypical symptoms of GCA (ear, nose, and throat involvement in 32% of patients, and renal, pulmonary, and neurologic involvement in 26%, 20%, and 16% of patients, respectively). Blood samples were screened for ANCAs at the time of disease onset in 33 patients, and results were positive in 88%, leading to a diagnosis of early TA‐AAV in 20 patients. The diagnosis of AAV was delayed a median interval of 15 months in 30 patients. Compared to controls with GCA, patients with TA‐AAV were younger (median age 70 years versus 74 years), were more frequently men (48% versus 30%), and had high frequencies of atypical manifestations and higher C‐reactive protein levels (median 10.8 mg/dl versus 7.0 mg/dl). In patients with TA‐AAV, temporal artery biopsy (TAB) showed fibrinoid necrosis and small branch vasculitis in 23% of patients each, whereas neither of these characteristics was evident in controls with GCA. Treatment failure–free survival was comparable between early TA‐AAV cases and GCA controls, whereas those with delayed TA‐AAV had a significantly higher risk of treatment failure compared to controls (HR 3.85, 95% CI 1.97–7.51; P < 0.0001).
Conclusion
TA‐AAV should be considered diagnostically in cases of atypical manifestations of GCA, refractoriness to glucocorticoid treatment, or early relapse. Analysis of TAB specimens for the detection of small branch vasculitis and/or fibrinoid necrosis could be useful. Detection of ANCAs should be performed in cases of suspected GCA with atypical clinical features and/or evidence of temporal artery abnormalities on TAB.
•B-cell monoclonality in MSG is associated with SS and with ongoing MALT lymphoma.•B-cell monoclonality in MSG is associated with clinical and biological lymphoma predictors.•B-cell monoclonality in ...MSG occurs when rheumatoid factor is combined to additional risk factors.
Non-Hodgkin's lymphoma (NHL) risk assessment is crucial in Sjögren's syndrome (SS). We studied the prevalence of clonal immunoglobulin gene rearrangements in minor salivary glands (MSG) and their correlations with lymphoma occurrence and with previously established NHL predictors.
Molecular B-cell expansion was studied in fresh-frozen MSG of 207 patients with either suspected SS or with suspected lymphoma during SS, using a standardised multiplex PCR assay combined with heteroduplex analysis by microcapillary electrophoresis. The assignation of clonal cases was based on EuroClonality consortium guidelines.
Among 207 studied patients, 31 (15%) had MSG monoclonal B-cell infiltration. Monoclonality was significantly more frequent in patients with SS (28/123, 22.8%) compared with patients without SS (3/84, 3.6%, P<0.001). Monoclonal B-cell infiltration in MSG of SS patients correlated significantly with ongoing salivary gland NHL, salivary gland swelling, CD4+ T-cell lymphopenia, rheumatoid factor (RF) activity, low complement levels and type 2 mixed cryoglobulinemia. The accumulation of biological risk factors was associated with a higher rate of MSG B-cell monoclonality given that patients with only positive RF had no probability of MSG B-cell monoclonality, RF-positive patients with 1 or 2 other risk factors had a 25.0% and 85.7% probability of MSG B-cell monoclonality, respectively.
The detection of MSG monoclonal B-cell expansion by this easy-to-perform molecular assay is useful, both at the time of diagnosis and during the course of SS. Monoclonal B-cell expansion is associated with a subset of SS patients presenting either ongoing lymphoma or other established lymphoma predictive factors.
Introduction/objectives
The aim of our study was to investigate possible differences in nailfold videocapillaroscopy (NVC) features between patients with dermatomyositis (DM), overlap myositis (OM), ...antisynthetase syndrome (ASS), and immune-mediated necrotizing myopathy (IMNM).
Methods
We performed a cross-sectional monocentric study. All patients with inflammatory myopathies (IMs) over a 6-month period were analyzed by NVC for giant and ramified capillaries, tortuosities, capillary density, disorganization, and scleroderma pattern. Clinical, biological, and pathological characteristics were retrospectively recorded. Patients were classified as having DM, OM, ASS, or IMNM for comparison. Patients were also compared with a group of patients with systemic sclerosis (SSc).
Results
NVC was analyzed in DM (
n
= 17), OM (
n
= 8), ASS (
n
= 12), and IMNM (
n
= 6). Vascular disorganization and avascular zones were observed only in DM (11.8%) and OM (62.5%). The percentage of patients with giant capillaries was higher in OM (
n
= 4/8) than in DM (
n
= 3/17) and absent in ASS and IMNM. Frequency of ramified capillaries, tortuosities, hemorrhages, or thrombosis was not different between subgroups. A scleroderma pattern was only observed in OM patients.
Conclusion
In this limited series of patients, we observed that DM and OM NVC abnormalities are different from ASS and IMNM. We could not determine NVC specific patterns associated with myositis-specific antibody subtypes of DM because of the small number of patients.
Key Points
• Nailfold videocapillaroscopy abnormalities are different in subgroups of inflammatory myopathies.
• Giant capillaries, disorganization, and major capillary loss are observed in overlap myositis and dermatomyositis but not in antisynthetase syndrome (ASS) or immune-mediated necrotizing myopathy.
• Nailfold videocapillaroscopy abnormalities in overlap myositis (with the exclusion of ASS) are close to systemic sclerosis.
We describe a case of relapsing polychondritis with laryngo-tracheal involvement, occurring after ear piercing in a 39-year-old woman. Polychondritis was clearly time-related to ear piercing. This ...association draws attention to the risk of relapsing polychondritis during body art practices with cartilage trauma.
Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme ...replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for the treatment of patients with mild or moderate Gaucher disease type 1 for whom enzyme replacement therapy is unsuitable or not a therapeutic option. There are few published real-world data on the use of miglustat as a maintenance therapy in Gaucher disease type 1 patients switched from previous enzyme replacement therapy. We report a case series of three patients who were switched from long-term enzyme replacement therapy to miglustat for various reasons.
All three patients were Caucasian and had confirmed Gaucher disease type 1. An 80-year-old man requested a switch to oral miglustat therapy in preference to ongoing intravenous enzyme replacement therapy, a 57-year-old woman was commenced on miglustat due to a shortage of imiglucerase, and a 56-year-old woman was switched from previous enzyme replacement therapy due to allergic reactions to intravenous infusions. Hematological disease parameters were stable in each patient on previous enzyme replacement therapy. Two patients continue to be treated with miglustat, having shown good tolerability and stable core disease parameters for approximately 4 years. One patient, who was also stable during 7 years of therapy, eventually discontinued miglustat as a precaution because he developed peripheral neuropathy of as yet unknown origin.
Overall, our experience indicates that miglustat can be used as maintenance therapy for Gaucher disease type 1 after initial enzyme replacement therapy, but the selection of patients to whom this approach should be applied should be made after careful consideration of all disease parameters.
Objective
Takayasu arteritis (TAK) is a large vessel vasculitis affecting young women of childbearing age. The outcome of pregnancies in TAK patients, factors associated with maternal and foetal ...complications and adverse outcomes were analysed.
Methods
All pregnancies in women with a TAK diagnosis were retrospectively included from 20 French hospitals providing care for TAK, until August 2015.
Results
The study consisted of 43 pregnancies in 33 women, including 29 with a pre-existing TAK diagnosis and 4 diagnosed during pregnancy. Complications were observed in 20 pregnancies (47%), including 35% with arterial hypertension (
n
= 15), 9% with pre-eclampsia (
n
= 4), 2% with HELLP syndrome (
n
= 1) and 14% with intrauterine growth restriction (IUGR,
n
= 6, leading in one case to a medically indicated termination of pregnancy). There were 42 live births (98%) at a median term of 38 27–42 weeks gestation including 9 before 37 weeks (21%). The median birth weight was 2940 610–4310 grams. Five children (12%) required transfer to a neonatal intensive care unit. One premature boy (27 weeks gestation) died after 2 days. Treatment during pregnancy included steroids (
n
= 25/43; 58%), azathioprine (
n
= 9/43; 21%) and infliximab (
n
= 1/43; 2%). The risk of developing arterial hypertension during pregnancy was associated with previous chronic arterial hypertension and with an infra-diaphragmatic vasculitis injury (
P
= 0.01 and
P
= 0.04, respectively). No correlation was reported between TAK activity and any of the obstetrical complications described in the study.
Conclusion
This study showed a high rate of adverse obstetrical complications without significant impact on live birth rates
.
Pregnancy did not appear to influence TAK disease activity.
Key Points
•
We observed a high rate of adverse obstetrical complications in women with Takayasu arteritis; however, the rate of live births was high
.
Pregnancy did not appear to influence TA disease activity.
Aseptic abscess (AA) syndrome is a rare disease whose pathophysiology is unknown. It is often associated with inflammatory bowel disease and characterised by sterile inflammation with collections of ...neutrophils affecting several organs, especially the spleen. Microbiota are known to influence local and systemic immune responses, and both gut and oral microbiota perturbations have been reported in diseases associated with AA syndrome. However, interactions between these factors have never been studied in AA syndrome. The purpose of this translational case-control study (ABSCESSBIOT) is to investigate gut and/or oral microbiota in patients with AA syndrome compared with healthy controls. Moreover, microbiota associated metabolites quantification and Treg/Th17 balance characterisation will give a mechanistic insight on how microbiota may be involved in the pathophysiology of AA syndrome.
This French multicentre case-control study including 30 French centres (University hospital or regional hospital) aims to prospectively enrol 30 patients with AA syndrome with 30 matched controls and to analyse microbiota profiling (in stools and saliva), microbial metabolites quantification in stools and circulating CD4
T cell populations.
This study protocol was reviewed and approved by an independent French regional review board (n° 2017-A03499-44, Comité de Protection des Personnes Ile de France 1) on 10 October 2022, and declared to the competent French authority (Agence Nationale de Sécurité du Médicament et des produits de santé, France). Oral and written informed consent will be obtained from each included patient and the control participant. Study results will be reported to the scientific community at conferences and in peer-reviewed scientific journals.
Clinical Trials web-based platform (NCT05537909).
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