RESUMEN
Vascular involvement in IgG4-related disease (IgG4-RD), is a well-recognized feature and large vessel commitment, especially the aorta, can be the only manifestation of the disease. Being a newly recognized disease, its diagnosis and workup still represents a challenge in clinical practice. A 47-year-old-man with two aortic aneurysms ruptures, one at abdominal and the other at thoracic level, was referred to our rheumatology department. The initial analysis of the surgical specimen obtained 3 years earlier revealed a nonspecific aortitis. Re-evaluation of the biopsy with immunohistology now demonstrated the presence of IgG4 deposits. Evidence-based recommendations regarding diagnosis, treatment and follow-up of IgG4-related large-vessel involvement are lacking. In this particular case, histopathology were crucial. The authors review and discuss vascular involvement in IgG4-RD and respective treatment options.
Asunto(s)
Aneurisma de la Aorta Abdominal/inmunología , Aneurisma de la Aorta Torácica/inmunología , Rotura de la Aorta/etiología , Aortitis/inmunología , Enfermedad Relacionada con Inmunoglobulina G4/inmunología , Anciano , Aneurisma de la Aorta Abdominal/patología , Aneurisma de la Aorta Torácica/patología , Rotura de la Aorta/inmunología , Rotura de la Aorta/cirugía , Aortitis/sangre , Aortitis/complicaciones , Aortitis/tratamiento farmacológico , Biomarcadores/sangre , Femenino , Humanos , Enfermedad Relacionada con Inmunoglobulina G4/sangre , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico , Enfermedad Relacionada con Inmunoglobulina G4/tratamiento farmacológico , Factores Inmunológicos/administración & dosificación , Masculino , Persona de Mediana Edad , Células Plasmáticas/inmunología , Rituximab/administración & dosificaciónAsunto(s)
ADN/genética , Endoglina/genética , Mutación , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Lengua/patología , Biopsia , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Telangiectasia Hemorrágica Hereditaria/genética , Tomografía Computarizada por Rayos XAsunto(s)
Dedos , Imagen por Resonancia Magnética/métodos , Angioscopía Microscópica/métodos , Tomografía de Emisión de Positrones/métodos , Enfermedad de Raynaud , Enfermedades Reumáticas/diagnóstico , Antirreumáticos/administración & dosificación , Autoanticuerpos/sangre , Diagnóstico Diferencial , Diagnóstico Precoz , Dedos/diagnóstico por imagen , Dedos/patología , Glucocorticoides , Humanos , Masculino , Persona de Mediana Edad , Necrosis , Enfermedad de Raynaud/complicaciones , Enfermedad de Raynaud/diagnóstico , Enfermedad de Raynaud/inmunología , Rabdomiólisis/diagnóstico , Rabdomiólisis/etiología , Rituximab/administración & dosificaciónRESUMEN
X-linked hypophosphatemic rickets (XLHR) is a life-long phosphate waste disorder that presents in early childhood with lower limb deformities, stunted growth, and bone and joint pain. In adults, osteomalacia and fractures may develop, aggravating bone and joint pain, stiffness, and disability. A 50-year-old woman with XLHR was referred to Rheumatology for incapacitating pain in her left lower limb with gait impairment. A pseudofracture was identified in the radiography of long bones, and secondary hyperparathyroidism was also observed. Treatment was optimized, and marked clinical improvement occurred. The authors review and discuss the underlying pathophysiology of this disease and its adequate management.
Asunto(s)
Raquitismo Hipofosfatémico Familiar , Fracturas Óseas , Hiperparatiroidismo Secundario , Osteomalacia , Adulto , Artralgia/complicaciones , Preescolar , Raquitismo Hipofosfatémico Familiar/complicaciones , Femenino , Fracturas Óseas/complicaciones , Humanos , Hiperparatiroidismo Secundario/complicaciones , Persona de Mediana Edad , Osteomalacia/etiología , FosfatosRESUMEN
OBJECTIVE: To describe people with gout who were diagnosed with coronavirus disease 2019 (COVID-19) and hospitalized and to characterize their outcomes. METHODS: Data on patients with gout hospitalized for COVID-19 between March 12, 2020, and October 25, 2021, were extracted from the COVID-19 Global Rheumatology Alliance registry. Descriptive statistics were used to describe the demographics, comorbidities, medication exposures, and COVID-19 outcomes including oxygenation or ventilation support and death. RESULTS: One hundred sixty-three patients with gout who developed COVID-19 and were hospitalized were included. The mean age was 63 years, and 85% were male. The majority of the group lived in the Western Pacific Region (35%) and North America (18%). Nearly half (46%) had two or more comorbidities, with hypertension (56%), cardiovascular disease (28%), diabetes mellitus (26%), chronic kidney disease (25%), and obesity (23%) being the most common. Glucocorticoids and colchicine were used pre-COVID-19 in 11% and 12% of the cohort, respectively. Over two thirds (68%) of the cohort required supplemental oxygen or ventilatory support during hospitalization. COVID-19-related death was reported in 16% of the overall cohort, with 73% of deaths documented in people with two or more comorbidities. CONCLUSION: This cohort of people with gout and COVID-19 who were hospitalized had high frequencies of ventilatory support and death. This suggests that patients with gout who were hospitalized for COVID-19 may be at risk of poor outcomes, perhaps related to known risk factors for poor outcomes, such as age and presence of comorbidity.
RESUMEN
BACKGROUND: The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reuma.pt, is a web-based electronic clinical record, created in 2008, which currently includes specific modules for 12 diseases and > 20,000 patients registered from 79 rheumatology centres. On October 2014, a dedicated module for vasculitis was created as part of the European Vasculitis Society collaborative network, enabling prospective collection and central storage of encrypted data from patients with this condition. All Portuguese rheumatology centres were invited to participate. Data regarding demographics, diagnosis, classification criteria, assessment tools, and treatment were collected. We aim to describe the structure of Reuma.pt/vasculitis and characterize the patients registered since its development. RESULTS: A total of 687 patients, with 1945 visits, from 13 centres were registered; mean age was 53.4 ± 19.3 years at last visit and 68.7% were females. The most common diagnoses were Behçet's disease (BD) (42.5%) and giant cell arteritis (GCA) (17.8%). Patients with BD met the International Study Group criteria and the International Criteria for BD in 85.3 and 97.2% of cases, respectively. Within the most common small- and medium-vessel vasculitides registered, median [interquartile range] Birmingham Vasculitis Activity Score (BVAS) at first visit was highest in patients with ANCA-associated vasculitis (AAV) (17.0 [12.0]); there were no differences in the proportion of patients with AAV or polyarteritis nodosa who relapsed (BVAS≥1) or had a major relapse (≥1 major BVAS item) during prospective assessment (p = 1.00, p = 0.479). Biologic treatment was prescribed in 0.8% of patients with GCA, 26.7% of patients with AAV, and 7.6% of patients with BD. There were 34 (4.9%) deaths reported. CONCLUSIONS: Reuma.pt/vasculitis is a bespoke web-based registry adapted for routine care of patients with this form of rare and complex diseases, allowing an efficient data-repository at a national level with the potential to link with other international databases. It facilitates research, trials recruitment, service planning and benchmarking.
Asunto(s)
Enfermedades Reumáticas , Vasculitis , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Portugal , Estudios Prospectivos , Sistema de Registros , Vasculitis/tratamiento farmacológicoRESUMEN
We report a case of a 46-year-old woman with a history of autoimmune atrophic gastritis and recurrent erythema nodosum (EN). Laboratory results showed iron-deficiency anaemia, positive antiparietal cell antibodies and marginal deficiency of vitamin B12. Although EN was refractory to general measures (rest and non-steroidal anti-inflammatory drugs) and corticosteroid therapy, it was successfully treated with vitamin B12 supplementation.
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Anemia Ferropénica/diagnóstico , Eritema Nudoso/diagnóstico , Gastritis Atrófica/diagnóstico , Deficiencia de Vitamina B 12/diagnóstico , Anemia Ferropénica/sangre , Anemia Ferropénica/complicaciones , Diagnóstico Diferencial , Duodenoscopía , Eritema Nudoso/complicaciones , Eritema Nudoso/patología , Femenino , Gastritis Atrófica/complicaciones , Gastritis Atrófica/patología , Humanos , Persona de Mediana Edad , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/complicacionesRESUMEN
Granulomatosis with polyangiitis (GPA) is a rare autoimmune disease characterized by granulomatous inflammation involving upper and lower respiratory tract, kidneys and peripheral nervous system. However, central nervous system involvement is uncommon and frequently refractory to classical therapy. Rituximab has emerged as promising alternative, but published reports are scarce. We report a case of pachymeningitis and cerebral granuloma in a patient with a history of severe generalized GPA, treated with rituximab. This case illustrates the complexity of the management of neurologic manifestations and provides insight into the potential utility of rituximab in this condition.
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Encefalopatías/tratamiento farmacológico , Granuloma/tratamiento farmacológico , Granulomatosis con Poliangitis/tratamiento farmacológico , Factores Inmunológicos/uso terapéutico , Meningitis/tratamiento farmacológico , Rituximab/uso terapéutico , Encefalopatías/etiología , Granuloma/etiología , Granulomatosis con Poliangitis/complicaciones , Humanos , Masculino , Meningitis/etiología , Persona de Mediana EdadRESUMEN
It is well established that rheumatoid arthritis is associated with an increased risk of lymphoma. The use of tumor-necrosis factor-α inhibitors as a therapy in rheumatoid arthritis has been related to higher incidence of lymphoma arising at atypical and/or unusual locations; however, recent data shows their safety. We report the case of a 79 year-old woman with rheumatoid arthritis treated with infliximab, who presented a primary breast lymphoma with cutaneous involvement.
Asunto(s)
Antirreumáticos/efectos adversos , Neoplasias de la Mama/inducido químicamente , Infliximab/efectos adversos , Linfoma de Células B de la Zona Marginal/inducido químicamente , Neoplasias Primarias Múltiples/inducido químicamente , Neoplasias Cutáneas/inducido químicamente , Anciano , Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , Femenino , Humanos , Infliximab/uso terapéutico , LinfomaRESUMEN
OBJECTIVE: To update the recommendations for the treatment of axial spondyloarthritis (axSpA) with biological therapies, endorsed by the Portuguese Society of Rheumatology. METHODS: These treatment recommendations were formulated by Portuguese rheumatologists based on literature evidence and consensus opinion. At a national meeting, the 7 recommendations included in this document were discussed and updated. A draft of the full text of the recommendations was then circulated and suggestions were incorporated. A final version was again circulated before publication and the level of agreement among Portuguese Rheumatologists was anonymously assessed using an online survey. RESULTS: A consensus was achieved regarding the initiation, assessment of response and switching of biological therapies in patients with axSpA. In total, seven recommendations were produced. The first recommendation is a general statement indicating that biological therapy is not a first-line drug treatment option and should only be used after conventional treatment has failed. The second recommendation is also a general statement about the broad concept of axSpA adopted by these recommendations that includes both non-radiographic and radiographic axSpA. Recommendations 3 to 7 deal with the definition of active disease (including the recommended threshold of 2.1 for the Ankylosing Spondylitis Disease Activity Score [ASDAS] or the threshold of 4 [0-10 scale] for the Bath Ankylosing Spondylitis Disease Activity Index [BASDAI]), conventional treatment failure (nonsteroidal anti-inflammatory drugs being the first-line drug treatment), assessment of response to treatment (based on an ASDAS improvement of at least 1.1 units or a BASDAI improvement of at least 2 units [0-10 scale] or at least 50%), and strategy in the presence of an inadequate response (where switching is recommended) or in the presence of long-term remission (where a process of biological therapy optimization can be considered, either a gradual increase in the interval between doses or a decrease of each dose of the biological therapy). CONCLUSION: These recommendations may be used for guidance in deciding which patients with axSpA should be treated with biological therapies. They cover a rapidly evolving area of therapeutic intervention. As more evidence becomes available and more biological therapies are licensed, these recommendations will have to be updated.
Asunto(s)
Terapia Biológica/normas , Espondiloartritis/terapia , HumanosRESUMEN
Biotechnological drugs have become a fundamental resource for the treatment of rheumatic patients. Patent expiry of some of these drugs created the opportunity for biopharmaceutical manufacturers to develop biosimilar drugs intended to be as efficacious as the originator product but with a lower cost to healthcare systems. Due to the complex manufacturing process and highly intricate structure of biologicals, a biosimilar can never be an exact copy of its reference product. Consequently, regulatory authorities issued strict preclinical and clinical guidelines to ensure safety and efficacy equivalence and, in September 2013, the biosimilar of infliximab was the first biosimilar monoclonal antibody to be authorized for use in the European Union. The current document is a position statement of the "Sociedade Portuguesa de Reumatologia" (Portuguese Society of Rheumatology) on the use of biosimilar drugs in rheumatic diseases. Two systematic literature reviews were performed, one concerning clinical trials and the other one concerning international position papers on biosimilars. The results were presented and discussed in a national meeting and a final position document was discussed, written and approved by Portuguese rheumatologists. Briefly, this position statement is contrary to automatic substitution of the originator by the biosimilar, defends either a different INN or the prescription by brand name, supports that switching between biosimilars and the originator molecule should be done after at least 6 months of treatment and based on the attending physician decision and after adequate patient information, recommends the registration of all biosimilar treated patients in Reuma.pt for efficacy, safety and immunogenicity surveillance, following the strategy already ongoing for originators, and opposes to extrapolation of indications approved to the originator to completely different diseases and/or age groups without adequate pre-clinical, safety or efficacy data.