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Although the terms "rare diseases" (RD) and "orphan diseases" (OD) are often used interchangeably, specific nuances in definitions should be noted to avoid misconception. RD are characterized by a low prevalence within the population, whereas OD are those inadequately recognized or even neglected by the medical community and drug companies. Despite their rarity, as our ability on discovering novel clinical phenotypes and improving diagnostic tools expand, RD will continue posing a real challenge for rheumatologists. Over the last decade, there has been a growing interest on elucidating mechanisms of rare autoimmune and autoinflammatory rheumatic diseases, allowing a better understanding of the role played by immune dysregulation on granulomatous, histiocytic, and hypereosinophilic disorders, just to name a few. This initiative enabled the rise of innovative targeted therapies for rheumatic RD. In this review, we explore the state-of-the art of rare RD and the critical role played by rheumatologists in healthcare. We also describe the challenges rheumatologists may face in the coming decades., (© 2024. The Author(s).)

Amyloidosis is a localized or systemic disease caused by deposition of proteins in the extracellular space of various organs and tissues. As part of the disease, proteins that were originally soluble misfold and acquire a fibrillar conformation that renders them insoluble and resistant to proteolysis. Systemic amyloidosis is a rare, often underdiagnosed condition. In recent years, the incidence of newly diagnosed cases of amyloidosis has been increasing in association with the aging of the population and greater access to diagnostic tests. From a clinical perspective, systemic amyloidosis is frequently associated with involvement of the kidneys (causing nephrotic syndrome), heart (cardiac failure and arrhythmia), and peripheral nervous system (sensorimotor polyneuropathy and autonomic dysfunction). This condition is important to the rheumatologist for several reasons, such as its systemic involvement that mimics autoimmune rheumatic diseases, its musculoskeletal manifestations, which when recognized can allow the diagnosis of amyloidosis, and also because reactive or secondary AA amyloidosis is a complication of rheumatic inflammatory diseases. The treatment of amyloidosis depends on the type of amyloid protein involved. Early recognition of this rare disease is fundamental for improved clinical outcomes., (© 2024. The Author(s).)

Objectives: To evaluate risk factors associated with unfavourable outcomes: emergency care, hospitalisation, admission to intensive care unit (ICU), mechanical ventilation and death in patients with immune-mediated rheumatic disease (IMRD) and COVID-19., Methods: Analysis of the first 8 weeks of observational multicentre prospective cohort study (ReumaCoV Brasil register). Patients with IMRD and COVID-19 according to the Ministry of Health criteria were classified as eligible for the study., Results: 334 participants were enrolled, a majority of them women, with a median age of 45 years; systemic lupus erythematosus (32.9%) was the most frequent IMRD. Emergency care was required in 160 patients, 33.0% were hospitalised, 15.0% were admitted to the ICU and 10.5% underwent mechanical ventilation; 28 patients (8.4%) died. In the multivariate adjustment model for emergency care, diabetes (prevalence ratio, PR 1.38; 95% CI 1.11 to 1.73; p=0.004), kidney disease (PR 1.36; 95% CI 1.05 to 1.77; p=0.020), oral glucocorticoids (GC) (PR 1.49; 95% CI 1.21 to 1.85; p<0.001) and pulse therapy with methylprednisolone (PR 1.38; 95% CI 1.14 to 1.67; p=0.001) remained significant; for hospitalisation, age >50 years (PR 1.89; 95% CI 1.26 to 2.85; p=0.002), no use of tumour necrosis factor inhibitor (TNFi) (PR 2.51;95% CI 1.16 to 5.45; p=0.004) and methylprednisolone pulse therapy (PR 2.50; 95% CI 1.59 to 3.92; p<0.001); for ICU admission, oral GC (PR 2.24; 95% CI 1.36 to 3.71; p<0.001) and pulse therapy with methylprednisolone (PR 1.65; 95% CI 1.00 to 2.68; p<0.043); the two variables associated with death were pulse therapy with methylprednisolone or cyclophosphamide (PR 2.86; 95% CI 1.59 to 5.14; p<0.018)., Conclusions: Age >50 years and immunosuppression with GC and cyclophosphamide were associated with unfavourable outcomes of COVID-19. Treatment with TNFi may have been protective, perhaps leading to the COVID-19 inflammatory process., Competing Interests: Competing interests: CDLM reports grants from National Council for Scientific and Technological Development (CNPq) and from Brazilian Society of Rheumatology, personal fees from Janssen, Novartis, Abbvie. AMK reports personal fees from Abbvie, Janssen, Pfizer, Lilly and Roche. MMP reports personal fees from Abbvie, Janssen, UCB, Novartis, Pfizer and Lilly. LMHM reports personal fees from Abbvie, Janssen, Pfizer, Roche, Boehringer Ingelheim, GSK, Libbs and Lilly. CRS reports personal fees from Pfizer, Abbvie and Novartis. AD reports personal fees from Boehringer Ingelheim. RDG reports personal fees from Janssen, Eli Lilly, Roche, Boehringer Ingelheim, Amgen Brasil, Pfizer, Sandoz, Novartis Brasil. LDAV personal fees from Janssen, Novartis and UCB. AKGM reports grants from Brazilian Society of Rheumatology, personal fees from Janssen and UCB. MAY reports personal fees from Novartis, Abbvie, Lilly and, UCB. RAdT reports personal fees from ABBVIE, GSK, JANSSEN, NOVARTIS, LILLY, PFIZER, ROCHE and UCB. RX reports grants and personal fees from Abbvie, Eli-Lilly, Pfizer, Janssen and Roche, personal fees from Novartis, UCB., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background/objective: Patients with autoimmune inflammatory rheumatic diseases (AIRDs) are at increased risk of contracting severe infections and suffering complications, particularly when they are receiving immunomodulating therapy. Vaccination is an important means to prevent many potential infections and thereby reduce the morbidity and mortality associated with AIRD. The purpose of this consensus document is to provide health care professionals with recommendations for the vaccination of AIRD patients who reside in Latin America. The recommendations were developed by an expert committee from the region based on a review of the literature and their clinical experience., Methods: The Americas Health Foundation (AHF) used PubMed and EMBASE to identify clinicians and scientists with an academic or hospital affiliation and who had published in the field of adult vaccination and rheumatic diseases since 2010. As a result of this effort, AHF convened an 8-member panel of clinical and scientific experts from Latin America. Both the AHF and panel members conducted a careful literature review to identify relevant publications in the areas of adult vaccination and rheumatology, and the sum of the articles identified was provided to the entire panel. Prior to the conference, panelists were each asked to prepare a written response to a salient issue on the subject, identified by AHF., Results and Conclusions: During the conference, each response was edited by the entire group, through numerous drafts and rounds of discussion until a complete consensus on vaccination recommendations for adult patients with AIRDs was obtained, including 7 key recommendations.

Background: Infliximab biosimilars are the first biosimilars of monoclonal antibodies approved by the main regulatory agencies. Up to the present day, two infliximab biosimilars have been approved: CT-P13 (Celltrion), and SB2 (Biogen), but other companies have been developing candidate infliximab biosimilars that are on clinical trials: PF 06438179 (Pfizer), the ABP710 (bioCentury/Amgen) the BCD055 (JSC Biocad Russica) and BOW015 (Epirus)., Methods: We have made a literature search in MedLine database using the key words [Infliximab] and [biosimilars] and [rheumatic diseases] and [rheumatisms]. We have also made a search in the clinicaltrials.org website., Conclusions: Clinical data published so far have provided important evidence on long-term efficacy and safety, immunogenicity and switching, supporting the use of CT-P13 and SB2 for the treatment of rheumatic diseases. In addition, the European experience has proved the economic advantages of the incorporation of infliximab biosimilars in clinical practice. Despite the widespread use of infliximab biosimilars there is still a lack of data regarding interchangeability between reference products and biosimilars., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.)