Are patients with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder so different?

Diagnosing hypermobile Ehlers-Danlos syndrome (hEDS) remains challenging, despite new 2017 criteria. Patients not fulfilling these criteria are considered to have hypermobile spectrum disorder (HSD). Our first aim was to evaluate whether patients hEDS were more severely affected and had higher prevalence of extra-articular manifestations than HSD. Second aim was to compare their outcome after coordinated physical therapy. Patients fulfilling hEDS/HSD criteria were included in this real-life prospective cohort (November 2017/April 2019). They completed a 16-item Clinical Severity Score (CSS-16). We recorded bone involvement, neuropathic pain (DN4) and symptoms of mast cell disorders (MCAS) as extra-articular manifestations. After a standardized initial evaluation (T0), all patients were offered the same coordinated physical therapy, were followed-up at 6 months (T1) and at least 1 year later (T2), and were asked whether or not their condition had subjectively improved at T2. We included 97 patients (61 hEDS, 36 HSD). Median age was 40 (range 18-73); 92.7% were females. Three items from CSS-16 (pain, motricity problems, and bleeding) were significantly more severe with hEDS than HSD. Bone fragility, neuropathic pain and MCAS were equally prevalent. At T2 (20 months [range 18-26]) 54% of patients reported improvement (no difference between groups). On multivariable analysis, only family history of hypermobility predicted (favorable) outcome (p = 0.01). hEDS and HDS patients showed similar disease severity score except for pain, motricity problems and bleeding, and similar spectrum of extra-articular manifestations. Long-term improvement was observed in > 50% of patients in both groups. These results add weight to a clinical pragmatic proposition to consider hEDS/HSD as a single entity that requires the same treatments.

[Rheumatoid arthritis-associated interstitial lung disease†: new genetic data and therapeutic perspectives]. / Pneumopathie interstitielle dans la ­polyarthrite rhumatoïde†: nouvelles données génétiques et perspectives thérapeutiques.

Diffuse interstitial lung disease (ILD) is one of the most frequent extra-articular manifestation of rheumatoid arthritis (RA) and is an important factor of morbidity and mortality. However, the physiopathological mechanisms underlying RA-associated ILD remain poorly understood, and disease management is difficult in the absence of effective treatments and international guidelines. The recent identification of genetic variants and mutations similar to those observed in idiopathic pulmonary fibrosis (IPF), a disease affecting exclusively the lung, provides new insights into the understanding of RA-associated ILD. Furthermore, new antifibrotic drugs approved for the treatment of IPF, including pirfenidone and nintedanib, could also prove to be effective for RA-associated ILD. Studies are ongoing to confirm this hypothesis.

La pneumopathie interstitielle diffuse compte parmi les manifestations extra-articulaires les plus fréquentes de la polyarthrite rhumatoïde (PR), et elle est un facteur important de morbidité et de mortalité. Elle reste toutefois mal comprise du point de vue physiopathologique et sa prise en charge est difficile, faute de traitements efficaces et de directives internationales. L'identification récente de variants génétiques et de mutations similaires à ceux observés dans la fibrose pulmonaire idiopathique (FPI), une maladie touchant exclusivement le poumon, offre de nouvelles perspectives de compréhension de la pneumopathie interstitielle associée à la PR. Par ailleurs, les nouveaux traitements antifibrotiques disponibles pour la FPI (pirfénidone et nintédanib) pourraient s'avérer aussi utiles dans la pneumopathie interstitielle associée à la PR. Des études sont en cours pour le déterminer.

[Rheumatic manifestations of Lyme disease : questions and controversies]. / Manifestations rhumatologiques de la maladie de Lyme : questions et controverses.

Osteoarticular manifestations of Lyme disease are well known features, although a number of controversies persist. These concern both the diagnosis, in particular the interpretation of serology results and the management, notably the role of antibiotics. In the article, we review a number of issues, and strive to shed light on the current evidence based Swiss and international data.

Bien que les manifestations ostéoarticulaires de la maladie de Lyme soient connues depuis de nombreuses années, un certain nombre de questions et de controverses persistent. Elles concernent aussi bien le diagnostic, en particulier l'interprétation de la sérologie, que la thérapeutique, notamment les régimes antibiotiques. Dans cet article, nous passons en revue un certain nombre de ces questions et controverses avec des tentatives de réponse au vu des données récentes de la littérature internationale et des données propres à la situation suisse.