Characteristics and risk factors of COVID-19 breakthrough infections in Idiopathic Inflammatory Myopathies: Results from the COVAD study.

OBJECTIVES: To explore prevalence, characteristics and risk factors of COVID-19 breakthrough infections (BIs) in idiopathic inflammatory myopathies (IIM) using data from the COVID-19 Vaccination in Autoimmune Diseases (COVAD) study. METHODS: A validated patient self-reporting e-survey was circulated by the COVAD study group to collect data on COVID-19 infection and vaccination in 2022. BIs were defined as COVID-19 occurring ≥14 days after 2 vaccine doses. We compared BIs characteristics and severity among IIMs, other autoimmune rheumatic and non-rheumatic diseases (AIRD, nrAID), and healthy controls (HC). Multivariable Cox regression models assessed the risk factors for BI, severe BI and hospitalisations among IIMs. RESULTS: Among 9449 included response, BIs occurred in 1447 (15.3%) respondents, median age 44 years (IQR 21), 77.4% female, and 182 BIs (12.9%) occurred among 1406 IIMs. Multivariable Cox regression among IIMs showed age as a protective factor for BIs [Hazard Ratio (HR)=0.98, 95%CI = 0.97-0.99], hydroxychloroquine and sulfasalazine use were risk factors (HR = 1.81, 95%CI = 1.24-2.64, and HR = 3.79, 95%CI = 1.69-8.42, respectively). Glucocorticoid use was a risk factor for severe BI (HR = 3.61, 95%CI = 1.09-11.8). Non-White ethnicity (HR = 2.61, 95%CI = 1.03-6.59) was a risk factor for hospitalisation. Compared with other groups, patients with IIMs required more supplemental oxygen therapy (IIM = 6.0% vs AIRD = 1.8%, nrAID = 2.2%, and HC = 0.9%), intensive care unit admission (IIM = 2.2% vs AIRD = 0.6%, nrAID, and HC = 0%), advanced treatment with antiviral or monoclonal antibodies (IIM = 34.1% vs AIRD = 25.8%, nrAID = 14.6%, and HC = 12.8%), and had more hospitalisation (IIM = 7.7% vs AIRD = 4.6%, nrAID = 1.1%, and HC = 1.5%). CONCLUSION: Patients with IIMs are susceptible to severe COVID-19 BI. Age and immunosuppressive treatments were related to the risk of BIs.

New insights into the taxonomy of autoimmune diseases based on polyautoimmunity.

OBJECTIVE: The clinical coexistence of two or more autoimmune diseases (ADs) fulfilling classification criteria is termed "overt polyautoimmunity" (PolyA), whereas the presence of autoantibodies unrelated to an index AD, without clinical criteria fulfillment, is known as "latent PolyA". We aimed to explore a new taxonomy of ADs based on PolyA. METHODS: In a cross-sectional study of 292 subjects, we evaluated the presence of PolyA in 146, 45, 29, 17, and 17 patients with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), autoimmune thyroid disease (AITD) and systemic sclerosis (SSc), respectively, and 38 healthy controls. Clinical assessment, autoantibody profile (by autoantigen array chip), lymphocytes immunophenotype and cytokine profile (by flow cytometry) were evaluated simultaneously. A mixed cluster methodology was used to classify ADs. RESULTS: Latent PolyA was more frequent than overt PolyA, ranging from 69.9% in RA to 100% in SSc. Nevertheless, both latent and overt PolyA clustered together. Over-expressed IgG autoantibodies were found to be hallmarks for the identification of index ADs. The combination of autoantibodies allowed high accuracy in the classification of ADs. Three well-defined clusters based on PolyA were observed with distinctive clinical and immunological phenotypes. CONCLUSIONS: This proof-of-concept study indicates that ADs can be classified according to PolyA. PolyA should be considered in all studies dealing with ADs, including epidemiological, genetic, and clinical trials.

Polymyalgia rheumatica: A case series from Colombia and analysis of Latin America.

OBJECTIVE: Polymyalgia rheumatica (PMR) is the most common inflammatory disease in patients over 50 years. Information about the disease in Latin America (LATAM) is scarce. We aimed to evaluate a group of Colombian patients with PMR and to conduct a systematic review of PMR in LATAM. METHODS: A multicentric retrospective study was performed. Medical records of 256 PMR patients were evaluated. Patients were divided into two groups, those fulfilling the 2012 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for PMR and those who did not (i.e., clinical diagnosis). A systematic literature review and meta regression was performed comparing Colombian vs LATAM patients. RESULTS: From 256 patients, 145 (56.6%) fulfilled the 2012 EULAR/ACR criteria, and 111 (43.3%) were classified by clinical diagnosis. Inflammatory bilateral shoulder pain, pelvic girdle aching, morning stiffness >45 min, elevated erythrocyte sedimentation rate (ESR), and C-reactive protein (CPR), and Methotrexate (MTX) prescription were more common in the 2012 EULAR/ACR group. None of the included patients presented overt polyautoimmunity (PolyA), whereas up to 24% exhibited latent PolyA. In addition, these patients showed high frequency of malignancy (7.59%). In the meta regression analysis, Colombian patients exhibited lower ESR levels, and were less likely to develop giant cell arteritis (GCA) as compared to the rest of LATAM data. CONCLUSION: Patients with PMR in LATAM exhibit similar phenotypes from other cohorts worldwide. Malignancy, GCA and latent PolyA should be considered in the routine clinical follow-up of patients with PMR.

Design of an algorithm for the diagnostic approach of patients with joint pain.

BACKGROUND: Rheumatic diseases are a reason for frequent consultation with primary care doctors. Unfortunately, there is a high percentage of misdiagnosis. OBJECTIVE: To design an algorithm to be used by primary care physicians to improve the diagnostic approach of the patient with joint pain, and thus improve the diagnostic capacity in four rheumatic diseases. METHODS: Based on the information obtained from a literature review, we identified the main symptoms, signs, and paraclinical tests related to the diagnosis of rheumatoid arthritis, spondyloarthritis with peripheral involvement, systemic lupus erythematosus with joint involvement, and osteoarthritis. We conducted 3 consultations with a group of expert rheumatologists, using the Delphi technique, to design a diagnostic algorithm that has as a starting point "joint pain" as a common symptom for the four diseases. RESULTS: Thirty-nine rheumatologists from 18 countries of Ibero-America participated in the Delphi exercise. In the first consultation, we presented 94 items to the experts (35 symptoms, 31 signs, and 28 paraclinical tests) candidates to be part of the algorithm; 74 items (25 symptoms, 27 signs, and 22 paraclinical tests) were chosen. In the second consultation, the decision nodes of the algorithm were chosen, and in the third, its final structure was defined. The Delphi exercise lasted 8 months; 100% of the experts participated in the three consultations. CONCLUSION: We present an algorithm designed through an international consensus of experts, in which Delphi methodology was used, to support primary care physicians in the clinical approach to patients with joint pain. Key Points • We developed an algorithm with the participation of rheumatologists from 18 countries of Ibero-America, which gives a global vision of the clinical context of the patient with joint pain. • We integrated four rheumatic diseases into one tool with one common symptom: joint pain. It is a novel tool, as it is the first algorithm that will support the primary care physician in the consideration of four different rheumatic diseases. • It will improve the correct diagnosis and reduce the number of paraclinical tests requested by primary care physicians, in the management of patients with joint pain. This point was verified in a recently published study in the journal Rheumatology International (reference number 31).

Distrofia simpática refleja idiopática / No presenta

La distrofia simpática refleja es un síndrome caracterizado por dolor local severo, desproporcionado, asociado a alteraciones de tipo vasomotor y cambios tróficos. Afecta las extremidades, apareciendo de forma relativamente frecuente luego de un trauma o cirugía, incluso aunque fuese menor. La presentación idiopática de este síndrome es mucho menos frecuente. A continuación se describe el caso de una mujer joven con distrofia simpática refleja idiopática y se presenta una revisión de la literatura con énfasis en el diagnóstico y tratamiento de esta entidad.

Reflex sympathetic dystrophy is characterized by intense and disproportionate local pain, associated with vasomotor and trophic changes. Extremities are commonly involved, especially when a trauma or surgery, even minor, has occurred. Likewise, spontaneous or idiopathic presentation of this syndrome is much less frequent. Here we describe the clinical picture of a young woman presenting with idiopathic reflex sympathetic dystrophy. Then we present a brief review, emphasizing on diagnosis and treatment of this disease.

Acrosteolisis severa en artritis gotosa y síndrome de Down / Severe acroosteolysis in gouty arthritis and Down syndrome

La asociación de gota y síndrome de Down (SD) es poco frecuente a pesar que ambas enfermedades son comunes en la población general. Más interesante aún es el hecho que la hiperuricemia sí es una característica frecuente entre las alteraciones metabólicas del SD. A continuación se informa el caso de un paciente de sexo masculino de 35 años con SD que consultó por artritis de tres años de evolución, inicial-mente en el quinto y luego en el primer dedo del pie izquierdo. Debido a la presencia de osteolisis severa en el primer y quinto dedo en la radiografía inicial del pie, se consideró patología tumoral, lo cual, sin embargo, fue descartado por ortopedia oncológica. Posteriormente se realizó el diagnóstico de artritis gotosa al encontrar hiperuricemia y confirmación de cristales de ácido úrico en una muestra de líquido extraída de un nódulo subcutáneo encontrado en el tobillo izquierdo. Este caso hace parte de los escasos informes que relacionan el SD y la gota. Adicionalmente el desarrollo de gota en este paciente tiene características inusuales como el sitio de inicio de la enfermedad y la severidad de la presentación. No es claro porque el desarrollo de gota en pacientes con SD es infrecuente.

The association between gout and Down Syndrome (DS) is very infrequent, in spite that both diseases are common in general population. Surprisingly, hyperuricemia is a common metabolic impairment in DS. In this report we describe a 35-years old man with DS presenting with arthritis in the fifth and then in the first toe of his left foot. Severe osteolysis of the first and fifth toe was seen by radiography. Because of this, neoplasm was suspected but later ruled out by oncologic orthopedist. After we found hyperuricemia a diagnosis of gout was made, and then confirmed by examination of a sample obtained from a subcutaneous node. This report is one of the few cases previously published. In addition, development of gout in this patient has unusual features like its onset in the fifth toe and its severity at presentation. In spite that hyperuricemia is common in DS, in not clear why these patients mostly do not develop gout.

Manifestaciones osteoarticulares por amiloidosis sistémica / Osteoarticular manifestations by systemic amyloidosis

La amiloidosis es un grupo de enfermedades cuyo común denominador es el depósito extracelular de fibrillas insolubles derivadas de proteínas en órganos y tejidos. De acuerdo a su etiología y al tipo de proteína depositada existen varias clases de amiloi-dosis. A pesar que la incidencia de amiloidosis sisté -mica secundaria (AA) ha disminuido notoriamente con el advenimiento de drogas modificadoras de la enfermedad (DMARD) y terapia biológica, continúa siendo el tipo de amiloidosis más frecuentemente observada por el reumatólogo. En este artículo revisamos la historia, clasificación, epidemiología, diagnóstico y tratamiento de la amiloidosis sistémica haciendo énfasis en las manifestaciones osteoar-ticulares que produce la enfermedad y en las distintas enfermedades reumatológicas que pueden originar una amiloidosis secundaria (AA). Así mismo publicamos un material fotográfico recopilado durante 20 años en diferentes centros de reumatología del país que es de gran ayuda para realizar el diagnóstico clínico de esta infrecuente patología.

Amyloidosis is a generic term that refers to the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins. Amyloidosis classification depends on its etiology and subtype of protein involved. Systemic secondary amyloidosis (AA) is the most frequent subtype seen on rheumatology services because rheumatoid arthritis is currently the most frequent cause of AA, although its incidence has been declined because a better treatment of rheumatoid arthritis with disease-modifying anti-rheumatic drugs (DMARD). In this review we provide a general overview of the pathogenesis, clinical manifestations, diagnosis, and treatment of the systemic amyloidosis, emphasizing on the rheu-matic manifestations of these disorders. Besides, we present a photographic material obtained in the last 20 years in several rheumatologic centers in our country that it has a crucial role in the diagnosis and follow-up of this infrequent pathology.

Fisiopatología del cartílago y bases para futuras terapias en osteoartritis temprana / Physiopathology of cartilage and base for future therapies in early osteoarthritis

La osteoartritis es la enfermedad articular más frecuente. Su principal síntoma es el dolor con o sin limitación funcional de la articulación comprometida. El deterioro del cartílago articular es un elemento central en su patogénesis. En la práctica diaria el tratamiento se centra en aliviar el dolor y mejorar la funcionalidad, sin alterar el curso natural de la enfermedad. Durante los últimos años se han realizado avances importantes en el entendimiento de la compleja fisiopatología del cartílago que han permitido explorar nuevas opciones terapéuticas con el objetivo de modificar el curso de la enfermedad, especialmente en su fase temprana.

Osteoarthritis (OA) is the most common arthropathy. It is characterized by pain with or without joint limitation. Degeneration of articular cartilage is an essential feature in its pathogenesis. In daily practice the treatment is directed to relief of pain and to improve joint function without modifying the disease itself. In the past few years, there have been important findings in the general understanding of the cartilage and its central role in the development of OA. New therapeutic options, especially those directed to modify the natural course, are under investigation in early OA.

Enfermedad reumatológica y embarazo / Rheumatic diseases and pregnancy

La presencia de enfermedad reumatológica en el embarazo no es infrecuente. Este hecho se favorece por la mayor prevalencia de enfermedades reumáticas en mujeres en edad fértil. El efecto del embarazo en la enfermedad reumatológica varía de acuerdo a la enfermedad; en algunos casos se tiende a exacerbar la patología de base, mientras que en otros tiende a remitir. Independiente de cuál sea la situación, la enfermedad reumática en el embarazo siempre representa un desafío importante para el equipo médico tratante. El tratamiento de cada condición difiere del estándar porque muchos medicamentos poseen efectos adversos para el embarazo y adicionalmente, en los estudios clínicos con frecuencia se excluye a la población obstétrica por lo que muchas de las recomendaciones en este grupo de pacientes provienen de observaciones clínicas. El conocimiento preciso del problema y la inclusión del médico reumatólogo en el equipo de tratamiento son pasos fundamentales para obtener un mejor resultado materno-fetal. En este artículo analizamos las enfermedades reumáticas más frecuentes y su relación con el embarazo.

The association between rheumatic diseases and pregnancy is not uncommon. This is due to the high prevalence of the rheumatic diseases among young women. The effect of pregnancy on any rheumatic disease is unique to each rheumatologic condition; in some cases pregnancy is the trigger for a flare-up, while in other cases the disease tends to go to remission. Independent to the clinical scenario, rheumatic diseases on a pregnant women is always a challenge for the medical team. Treatment for each condition differs from the standard of care, because many drugs may have serious side effects on pregnancy. Besides, obstetric population is commonly excluded from clinical trials, so most recommendations are made by expert opinion and clinical observations. The precise understanding of this situation and the participation of a rheumatologist in the medical team are essential elements to achieve the best outcomes. In this paper we review the most frequents rheumatic diseases and its relation with pregnancies.