Acroosteólisis y dismorfia facial: un nuevo caso de síndrome de Hajdu-Cheney / Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney Syndrome

El síndrome de Hajdu-Cheney o síndrome acro-dento-osteo-displasia es una enfermedad rara caracterizada por osteólisis en banda de las falanges distales y dismorfia facial, entre otras manifestaciones. Describimos el caso de un varón de 45 años que consultó por dolor articular de características mecánicas en las manos, asociando dismorfia facial, alteraciones craneofaciales y deformidades digitales en telescopaje con acroosteólisis.(AU)

Hajdu-Cheney syndrome or acro-dento-osteo-dysplasia syndrome is a rare disease characterized by band osteolysis of distal phalanges and facial dysmorphia, among other manifestations. We present the case of a 45-year-old male who consulted for mechanical joint pain of both hands, facial dysmorphism, cranio-facial alterations, and digital telescoping with acroosteolysis.(AU)

Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome or acro-dento-osteo-dysplasia syndrome is a rare disease characterized by band osteolysis of distal phalanges and facial dysmorphia, among other manifestations. We present the case of a 45-year-old male who consulted for mechanical joint pain of both hands, facial dysmorphism, cranio-facial alterations, and digital telescoping with acroosteolysis.

Management of Axial Disease in Patients With Psoriatic Arthritis: An Updated Literature Review Informing the 2021 GRAPPA Treatment Recommendations.

OBJECTIVE: Axial involvement in patients with psoriatic arthritis (PsA) is a common subset of this condition, but a unanimous definition has yet to be established. It has been defined by using different criteria, ranging from the presence of at least unilateral grade 2 sacroiliitis to those used for ankylosing spondylitis (AS), or simply the presence of inflammatory low back pain (IBP). Our aim was to identify and evaluate the efficacy of therapeutic interventions for treatment of axial disease in PsA. METHODS: This systematic review is an update of the axial PsA (axPsA) domain of the treatment recommendations project by the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA). RESULTS: The systematic review of the literature showed that new biologic and targeted synthetic disease-modifying antirheumatic drug classes, namely interleukin (IL)-17A and Janus kinase inhibitors, could be considered for the treatment of axPsA. This would be in addition to previously recommended treatments such as nonsteroidal antiinflammatory drugs, physiotherapy, simple analgesia, and tumor necrosis factor inhibitors. Conflicting evidence still remains regarding the use of IL-12/23 and IL-23 inhibitors. CONCLUSION: Further studies are needed for a better understanding of the treatment of axPsA, as well as validated outcome measures.

Patient Perception of Medical Care for Psoriatic Arthritis in North America and Europe: Results from a Global Patient Survey.

INTRODUCTION: To compare perceptions of disease control and treatment satisfaction between patients with psoriatic arthritis (PsA) in North America and Europe, and between participating countries within each region. METHODS: Data were collected from patients with self-reported PsA diagnoses using an online survey. Results from questions on perceptions of overall health, disease severity, PsA symptoms, PsA impacts, and treatment satisfaction/preferences were reported using descriptive statistics and Chi-square tests. RESULTS: A total of 456 patients from North America (Canada, n = 155; US, n = 301) and 417 patients from Europe (France, n = 123; Spain, n = 135; UK, n = 159) were included in this analysis. Patients in North America were more likely to rate their overall health as excellent/good compared with those in Europe (49 vs. 14%), but also rate their disease as severe (27 vs. 15%). Despite treatment, patients in North America and Europe still experienced musculoskeletal (92 vs. 91%) and skin/nail (62 vs. 58%) symptoms. Similar proportions of patients in North America vs. Europe experienced a social impact (81 vs. 85%); more patients in Europe vs. North America experienced PsA-related work impacts (83 vs. 74%). Satisfaction with PsA medication was more common in North America (89%) vs. Europe (79%), and more common in Spain (91%) vs. the UK (82%) or France (66%). Across all regions and countries, ≥ 75% of patients agreed that symptoms were controlled. However, ≥ 66% wished they had more medication choices, and ≥ 84% wanted to change something about their medication. CONCLUSIONS: Although perception of overall health and disease severity varied, many patients from both regions still experienced symptoms despite receiving medications for PsA, wished they had greater choice of medications, and/or would like to change an aspect of their medications. While these survey findings are subject to selection bias, they do indicate there is scope to improve the treatment of PsA.

Psoriatic arthritis (PsA) is a disease that can cause joint pain and stiffness, and is often associated with a skin rash called psoriasis. These symptoms can affect quality of life, and patients and doctors should work together when choosing treatment. There has not been a lot of information on what patients think about their disease and their medicines. We found that patients from different regions and countries had different opinions, and that treatment of PsA can be improved. For example, patients in North America were more likely to say that their overall health was excellent or good, compared with patients in Europe. However, more patients in North America than in Europe described their PsA disease as severe. Similar numbers of patients in both regions experienced impacts on their social life due to their PsA, but patients in Europe were more likely to report that PsA affected their work life compared with patients in North America. More patients in North America than in Europe were satisfied with their medicines, but patients across all regions and countries still had symptoms even when they took medicines. Many patients also wished they had more options and wanted to change something about their medicines. These findings were based on an online survey. Patients from North America (Canada and the US) and Europe (France, Spain, and the UK) answered questions about their PsA disease and medicines. We only compared answers between patients from North America and Europe, and between countries within each region.

Construct Validity of the Routine Assessment of Patient Index Data 3 (RAPID3) in the Evaluation of Axial Spondyloarthritis.

OBJECTIVE: Although there are different tools to evaluate axial spondyloarthritis (axSpA), they are hardly used in routine clinical practice due to time constraints. The Routine Assessment of Patient Index Data 3 (RAPID3) is a composite measure feasible for use as a sole metric in busy clinics. We aimed to test its measurement properties in patients with axial SpA in a real-world clinical setting. METHODS: This cross-sectional study included 131 consecutive patients with axial SpA. The convergent (Spearman ρ) and discriminant (receiver-operating characteristic [ROC] curve analysis) validity of RAPID3 were tested against several axSpA-specific measures (Bath Ankylosing Spondylitis Disease Activity Index [BASDAI], Ankylosing Spondylitis Disease Activity Score [ASDAS], Bath Ankylosing Spondylitis Functional Index [BASFI], and modified Stoke Ankylosing Spondylitis Spinal Score [mSASSS]). A multivariate model was built to detect disease factors associated with RAPID3 remission (values ≤ 3). RESULTS: The study included 82 men and 49 women, with a median age of 55 (IQR 46-61) years, and a median disease duration of 11 (IQR 6-24) years. Mean RAPID3 was 9.45 ± 6.7. The BASDAI showed moderate correlation with ASDAS (ρ 0.66, P < 0.0001), but higher correlations with BASFI (ρ 0.78, P < 0.0001) and RAPID3 (ρ 0.75, P < 0.0001). The ASDAS had moderate correlations with BASFI, BASDAI, and RAPID3 (ranges 0.66-0.68, P < 0.0001). Higher correlations were found between BASFI and BASDAI (ρ 0.78, P < 0.0001), and BASFI and RAPID3 (ρ 0.73, P < 0.0001). The mSASSS did not show any correlation with any of the above composite measures. κ agreement between RAPID3 remission and other SpA remission criteria was moderate (κ 0.46-0.56). The RAPID3 thresholds to define remission ranged from values ≤ 2 to ≤ 6 with areas under the ROC curve between 0.86-0.91. Female sex (OR 0.34, 95% CI 0.12-0.90, P = 0.03) and nonsteroidal antiinflammatory drug intake (OR 0.26, 95% CI 0.10-0.66, P = 0.005) were independently associated with lower odds of achieving RAPID3 remission. CONCLUSION: RAPID3 demonstrated construct validity in this cross-sectional study. This index can be useful for a more comprehensive assessment of axSpA in busy clinical settings.

Patient Perceptions of Psoriatic Arthritis Management and Communication with Physicians in Australia: Results from a Patient Survey.

INTRODUCTION: The objective of this report was to evaluate perceptions of psoriatic arthritis (PsA) treatment and satisfaction with healthcare professional (HCP) communication among patients with PsA in Australia, compared with overall global perceptions. METHODS: Data were collected via a global and country-specific survey (The Harris Poll; November 2, 2017-March 12, 2018). Eligible patients were ≥ 18 years old, had been diagnosed with PsA > 1 year prior, had seen a rheumatologist or dermatologist within the past 12 months, and had previously received ≥ 1 conventional synthetic or biologic disease-modifying antirheumatic drug. Data reported by patients included baseline demographics, overall health, time since PsA diagnosis, PsA severity, satisfaction with current PsA medication and management, and experiences regarding communication with their HCP. Descriptive statistics were obtained. RESULTS: Most patients in Australia were very or somewhat satisfied with their PsA medication, and reported always or often taking their medication exactly as directed by their HCP. However, the majority still experienced symptoms, reported their overall health as poor or fair, and would change something about their PsA medication. While the majority of patients in Australia were satisfied with the communication with their HCP, most would prefer increased communication but some felt that asking too many questions would affect the quality of their care. Perceptions in Australia were similar to global perceptions. CONCLUSIONS: Although most patients with PsA in Australia were satisfied with their disease management and communication with their HCP, many still experienced symptoms, would change something about their PsA medication, and would prefer increased communication with their HCP.

Psoriatic arthritis (PsA) can cause tender and swollen joints. If not treated properly, the joint damage can get worse, until patients struggle to cope with everyday tasks. Patients and their doctors need to communicate well to successfully manage PsA. We used an online survey to ask patients in Australia how they feel about their PsA medication and the way they communicate with their doctor. These patients were adults who had had PsA for more than 1 year, had seen a specialist doctor in the past year, and had taken one or more prescription PsA medications. A total of 152 patients in Australia completed the survey. Most patients were very or somewhat satisfied with the PsA medication they were taking, and most always or often took it exactly as their doctor told them to. However, almost all patients still had symptoms, most said their overall health was poor or fair, and most would like to change something about their medication. While most patients were satisfied with the communication with their doctor about PsA, most wished they talked more with their doctor about their PsA and treatment goals, but some felt that asking too many questions would harm their quality of care. Patients in Australia had similar answers to patients who answered the survey in other countries. Although the survey was limited by the number of patients who responded, and whether patients answered questions properly, it suggests that patients and doctors need to communicate more closely to improve PsA management.

Actualización del Documento de posicionamiento de la Sociedad Española de Reumatología sobre fármacos biosimilares / Update of the Position Paper of the Spanish Society of Rheumatology on Biosimilar Drugs

En el año 2015 la Sociedad Española de Reumatología (SER) publicó su posicionamiento sobre fármacos biosimilares. En esta actualización, la SER, sigue manifestando su compromiso inequívoco con la sostenibilidad del sistema sanitario de nuestro país y se alinea con las medidas que, sin reducir la calidad asistencial, estén encaminadas a asegurar su sostenibilidad. Desde la publicación del anterior posicionamiento la Comisión Europea ha autorizado la comercialización de nuevos fármacos biosimilares, lo que abre una excelente oportunidad de avanzar en la eficiencia de la atención sanitaria. En este nuevo escenario de incremento de la oferta terapéutica de biológicos, la SER considera imprescindible preservar la libertad de prescripción de los médicos que realizan la indicación de fármacos basándose exclusivamente en las características y circunstancias individuales de cada paciente, sin olvidar los aspectos económicos que se derivan de dicha actuación.(AU)

In 2015 the Spanish Society of Rheumatology (Sociedad Española de Reumatología [SER]) published its position paper on biosimilar drugs. In this update, the SER, continues to manifest its unequivocal commitment to the sustainability of the health system of our country and is aligned with the measures that, without reducing quality of care, are aimed at ensuring its continuity. Since the publication of the previous position paper, the European Commission has authorized new biosimilar drugs, which provides an excellent opportunity to advance the efficiency of health care. In this new scenario of increased therapeutic offer of biologics, the SER considers it crucial to preserve the freedom of prescription of physicians who prescribe drugs based exclusively on the characteristics and individual circumstances of each patient, without forgetting the economic aspects there of.(AU)

Update of the Position Paper of the Spanish Society of Rheumatology on Biosimilar Drugs. / Actualización del Documento de posicionamiento de la Sociedad Española de Reumatología sobre fármacos biosimilares.

In 2015 the Spanish Society of Rheumatology (Sociedad Española de Reumatología [SER]) published its position paper on biosimilar drugs. In this update, the SER, continues to manifest its unequivocal commitment to the sustainability of the health system of our country and is aligned with the measures that, without reducing quality of care, are aimed at ensuring its continuity. Since the publication of the previous position paper, the European Commission has authorized new biosimilar drugs, which provides an excellent opportunity to advance the efficiency of health care. In this new scenario of increased therapeutic offer of biologics, the SER considers it crucial to preserve the freedom of prescription of physicians who prescribe drugs based exclusively on the characteristics and individual circumstances of each patient, without forgetting the economic aspects there of.

Do NSAIDs Take Us Away From Treatment Goals in Axial Spondyloarthritis: A Story About Dysbiosis or Just a Matter of Bias?

Non-steroidal anti-inflammatory drugs (NSAIDs) remain the mainstay of treatment for spondyloarthritides (SpA), a group of entities with common clinical and pathophysiological aspects, but also with differential features. Although NSAIDs provide significant symptomatic relief, especially for joint pain and morning stiffness, their role in achieving and maintaining the treatment goals advocated by the treat to target strategy in SpA is not entirely clear. These agents can induce changes in the composition of the intestinal microbiota, also favoring an alteration of the barrier function in the gut epithelium. All of this, favored by a pre-disposing genetic background, could activate a specific type of aberrant immune response in the gut lamina propria, also known as type-3 immunity. This article offers a perspective on how NSAIDs, despite their undeniable value in the short-term SpA treatment, could hinder the achievement of medium and long-term treatment goals by compromising the barrier function of the gut mucosa and potentially altering the composition of the gut microbiota.

Biological dose tapering in daily clinical practice: a 10 year follow-up study / Optimización de la dosis de biológicos en práctica clínica: experiencia de 10 años

OBJECTIVE: To describe practice patterns, long-term outcome, and related factors, in relation to biological therapies tapering in rheumatoid arthritis (RA) patients in a well-controlled real-world setting. METHODS: An observational longitudinal retrospective 10-year study was conducted in all RA patients receiving biological agents in an RA clinic from May 2003 to October 2013. Biological treatment of patients with sustained DAS28<3.2 or SDAI<11 was tapered (dose down-titrated or interval widen) or discontinued as per practice protocol. Primary outcome of tapering was relapse, defined as an increase in DAS28≥1.2. Descriptive, survival analysis, and logistic regression analysis with first relapse as dependent variable were carried out. RESULTS: Of 193 RA patients on biological treatment (mean age 54±14 years, 81% women), tapering was applied in 106 (55%) and discontinuation in 34 (17.6%). During follow-up 38 patients relapsed (62%). Rate of relapse was 10% at 6 months, 19% at 12 months, 33.2% at 2 years and 50% after 5 years. Mean time in dose reduction was 4.5 years [95% confidence interval (95% CI): 3.7-5.3]. Six patients (15.7%) did not respond after reinstatement of full dose of biologic. In the multivariate analysis, pain [OR=1.26 (95% CI: 1.11-1.43); P<.001] and erythrocyte sedimentation rate (ESR) [OR=1.01 (95% CI: 1.00-1.03); P=.011] at baseline were associated with relapse after tapering. CONCLUSIONS: Tapering may be considered a long-term option in RA patients on biologics and low disease activity, especially if low ESR and pain scores are present at baseline; treatment reinstatement could be considered a safe option in case of relapse

OBJETIVO: Describir los patrones de práctica clínica, los resultados a largo plazo y los factores relacionados en relación a la optimización de las terapias biológicas en pacientes con artritis reumatoide (AR) en un entorno de vida real bien controlado. MÉTODOS: Se realizó un estudio retrospectivo observacional longitudinal de 10 años que incluyó a todos los pacientes con AR que recibieron agentes biológicos en una consulta monográfica de AR entre mayo de 2003 y octubre de 2013. Se optimizó el tratamiento biológico (ajuste de dosis o ampliación de intervalo) en los pacientes con DAS28<3,2 o SDAI<11 de forma mantenida según un protocolo de práctica clínica. La variable principal fue la recaída, definida como un aumento en el DAS28≥1,2. Se realizó un análisis descriptivo, de supervivencia y modelos de regresión logística con la primera recaída como variable dependiente. RESULTADOS: De 193 pacientes con AR en tratamiento biológico (edad media 54±14 años, 81% mujeres), se optimizó la dosis en 106 (55%) y se interrumpió el tratamiento en 34 (17,6%). Durante el seguimiento 38 pacientes recayeron (62%). La tasa de recaída fue del 10% a los 6 meses, del 19% a los 12 meses, del 33,2% a los 2 años y del 50% a los 5 años. El tiempo medio con dosis reducida fue de 4 años y medio (intervalo de confianza del 95% [IC 95%]: 3,7 a 5,3). Seis pacientes (15,7%) no respondieron después de restablecer la dosis completa de biológico. En el análisis multivariado, el dolor (OR=1,26 [IC 95%: 1,11 a 1,43]; p < 0,001) y la velocidad de sedimentación globular (VSG) (OR por mm/h=1,01 [IC 95%: 1,00 a 1,03]; p = 0,011) al inicio del estudio se asociaron a recaída tras la optimización. CONCLUSIONES: La optimización de la dosis se puede considerar una opción a largo plazo en pacientes con AR en tratamiento con agentes biológicos y baja actividad de la enfermedad, especialmente si la VSG y el dolor están en niveles bajos; la reinstauración del tratamiento podría considerarse una opción segura en caso de recaída en la mayoría de los pacientes

COVID-19 patients with psoriasis and psoriatic arthritis on biologic immunosuppressant therapy vs apremilast in North Spain.

Immunosuppressive and immunomodulatory treatments are critical for the management of inflammatory and autoimmune conditions such as psoriasis or psoriatic arthritis. Similar to those illnesses, the lung injury and acute respiratory distress shown in coronavirus disease 2019 (COVID-19) patients are the result of a disruption in the balance of pro- and anti-inflammatory cytokines. This hyperinflammatory response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), associated with the severity of the coronavirus disease, is called the cytokine storm. There is a growing concern regarding how patients on immunosuppressant biologic therapies might be at higher risk of being infected and whether they need to discontinue their treatment preemptively. Clinical data on COVID-19-infected patients with psoriasis or psoriatic arthritis are still scarce. Here, we presented seven cases of these type of patients. The patient infected with COVID-19 on apremilast and the one on apremilast with infected spouse showed the best safety profile and mildest symptoms. One of the secukinumab patients also presented a relatively good outcome. Infliximab patients and the one with serious comorbidities showed the worst outcome. Even though more clinical data are yet needed to draw strong conclusions, apremilast could be a safer alternative for dermatology and rheumatology patients in case of clinically important active infection.

Biological Dose Tapering in Daily Clinical Practice: A 10 Year Follow-up Study.

OBJECTIVE: To describe practice patterns, long-term outcome, and related factors, in relation to biological therapies tapering in rheumatoid arthritis (RA) patients in a well-controlled real-world setting. METHODS: An observational longitudinal retrospective 10-year study was conducted in all RA patients receiving biological agents in an RA clinic from May 2003 to October 2013. Biological treatment of patients with sustained DAS28<3.2 or SDAI<11 was tapered (dose down-titrated or interval widen) or discontinued as per practice protocol. Primary outcome of tapering was relapse, defined as an increase in DAS28≥1.2. Descriptive, survival analysis, and logistic regression analysis with first relapse as dependent variable were carried out. RESULTS: Of 193 RA patients on biological treatment (mean age 54±14 years, 81% women), tapering was applied in 106 (55%) and discontinuation in 34 (17.6%). During follow-up 38 patients relapsed (62%). Rate of relapse was 10% at 6 months, 19% at 12 months, 33.2% at 2 years and 50% after 5 years. Mean time in dose reduction was 4.5 years [95% confidence interval (95% CI): 3.7-5.3]. Six patients (15.7%) did not respond after reinstatement of full dose of biologic. In the multivariate analysis, pain [OR=1.26 (95% CI: 1.11-1.43); P<.001] and erythrocyte sedimentation rate (ESR) [OR=1.01 (95% CI: 1.00-1.03); P=.011] at baseline were associated with relapse after tapering. CONCLUSIONS: Tapering may be considered a long-term option in RA patients on biologics and low disease activity, especially if low ESR and pain scores are present at baseline; treatment reinstatement could be considered a safe option in case of relapse.

Anti-MDA5 dermatomyositis mimicking psoriatic arthritis / Dermatomiositis con anticuerpos anti-MDA5 simulando una artritis psoriásica

Dermatomyositis causes inflammation and damage of muscle and skin, and sometimes involves internal organs, especially lung parenchyma. Patients with dermatomyositis still represent a diagnostic challenge because of the rarity of this disease and the lack of specificity of some of its cutaneous manifestations. Herein, we describe the case of a patient with dermatomyositis, initially diagnosed as psoriatic arthritis, in which the performance of anti-melanoma differentiation-associated gene 5 (MDA5) antibodies was decisive to establish a definitive diagnosis

La dermatomiositis causa inflamación y daño del músculo y la piel, y en ocasiones afecta a órganos internos, especialmente el parénquima pulmonar. Los pacientes con dermatomiositis representan todavía un reto diagnóstico debido a la rareza de esta enfermedad y la falta de especificidad de algunas de sus manifestaciones cutáneas. Describimos el caso de una paciente con dermatomiositis, inicialmente diagnosticada de artritis psoriásica, en la que la determinación de anticuerpos anti-MDA5 fue decisiva para establecer un diagnóstico definitivo

Rol de la interleucina-17 en otras enfermedades y comorbilidades / Role of interleukin-17 in other diseases and comorbidities

La interleucina 17A (IL-17A) es una citocina producida por linfocitos T colaboradores (Th17) y otras células del sistema inmune, con efectos pleiotrópicos sobre múltiples estirpes celulares. Mientras que su deficiencia produce una reducción en el control de ciertas infecciones extracelulares y fúngicas, su sobreproducción puede constituir la base patogénica de varias enfermedades mediadas por el sistema inmune. Aunque la eficacia del bloqueo terapéutico de esta citocina es un hecho probado en varias enfermedades, también es importante conocer el rol de esta citocina en otras circunstancias clínicas. En este artículo de revisión se describe el papel que desempeña la IL-17A en la patogenia de algunas de las enfermedades con las que está relacionada, como la psoriasis, la enfermedad inflamatoria intestinal y la uveítis, así como el riesgo de infecciones asociado al bloqueo o al déficit genético de esta

Interleukin-17A (IL-17A) is a cytokine produced by T helper lymphocytes (Th17) and other cells of the immune system, with pleiotropic effects on a number of cell lines. Whereas its deficiency reduces the control of certain extracellular and fungal infections, its overproduction can constitute the pathogenic basis of a number of immune-mediated diseases. Although the efficacy of the therapeutic blockade of this cytokine has been confirmed in several diseases, it is also important to be aware of its involvement in other clinical circumstances. In this review article, we describe the role of IL-17A in the pathogenesis of some of the diseases with which it is linked, such as psoriasis, inflammatory bowel disease and uveitis, as well as the risk of infections associated with its blockade or its genetic deficiency

Anti-MDA5 dermatomyositis mimicking psoriatic arthritis.

Dermatomyositis causes inflammation and damage of muscle and skin, and sometimes involves internal organs, especially lung parenchyma. Patients with dermatomyositis still represent a diagnostic challenge because of the rarity of this disease and the lack of specificity of some of its cutaneous manifestations. Herein, we describe the case of a patient with dermatomyositis, initially diagnosed as psoriatic arthritis, in which the performance of anti-melanoma differentiation-associated gene 5 (MDA5) antibodies was decisive to establish a definitive diagnosis.