European journal of rheumatology最新文献

Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare hereditary disease that results in a symmetrical hyperostosis of the long bones (cortical thickening) and/or the base of the skull. Camurati-Engelmann disease is also associated with myopathy and neurological manifestations. Clinically, Camurati-Engelmann disease typically presents with bone pain in the lower extremities, muscle weakness, and a wobbly, stilted gait. The disease is caused by mutations in the transforming growth factor-beta 1 gene. Up to date, about 300 cases have been described in the literature. In this case-based review, we present the clinical picture and genetic and radiological findings in a 20-yearold male patient we diagnosed with Camurati-Engelmann disease and our considerations in his treatment and compare the case to the literature. The diagnosis of Camurati-Engelmann disease was confirmed on patients' history, clinical and radiological findings, and genetic testing for transforming growth factor beta-1 mutation. The patient responded well to single therapy with zoledronic acid. Early diagnosis leads to improved clinical outcomes and increased quality of life in affected patients.

Objective: Most patients with psoriatic arthritis begin with cutaneous psoriasis, which is why all early detection strategies are based on screening in the dermatological consultation and referral to a rheu matologist. However, there are cases of patients who consult initially for musculoskeletal symptoms, mostly joint pain, regardless of family and/or personal history of psoriasis. This study aimed to esti mate the frequency of psoriatic arthritis in a cohort of patients who consulted for polyarthralgia and to determine the differential features, at the time of clinical presentation, in relation to both patients with final diagnosis other than psoriatic arthritis and patients with diagnosis of rheumatoid arthritis.

Methods: Consecutive patients with polyarthralgia (including arthralgia of the hands) were included. Clinical examination, laboratory tests, ultrasound with power Doppler of both hands, and radiography of both hands and feet were performed at baseline. All patients were followed up and the definitive diagnosis of psoriatic arthritis was established.

Results: A total of 1055 were included, 88 (8.3%) ended with diagnosis of psoriatic arthritis. Diagnosis of psoriatic arthritis was positively associated with a family history of psoriasis (odds ratio=4.14), pso riasis (odds ratio=78.94), radiographic erosions (odds ratio=5.74), and ultrasound with at least 1 joint with positive power Doppler (odds ratio=7.11). In comparison with rheumatoid arthritis patients, diagnosis of psoriatic arthritis was positively associated with psoriasis (odds ratio=433.42) and family history of psoriasis (odds ratio=41.63). On the other hand, it was negatively associated with positivity, for both rheumatoid factor (odds ratio=0.03) and anti-cyclic citrullinated peptide antibodies (odds ratio=0.06).

Conclusion: The frequency of psoriatic arthritis was 8.3% and was associated with a personal and/or family history of psoriasis, radiographic erosions, and inflammatory involvement by Power Doppler Ultrasound (PDUS). In comparison with rheumatoid arthritis patients, psoriatic arthritis was associated with a personal and/or family history of psoriasis, while the presence of both rheumatoid factor and/ or anti-cyclic citrullinated peptide antibodies was shown to be a protective factor for the diagnosis of psoriatic arthritis.

Objective: This study aimed to describe severe infections in patients treated with tocilizumab for systemic diseases other than rheumatoid arthritis.

Methods: Data from patients receiving at least 2 doses of tocilizumab for systemic diseases other than rheumatoid arthritis between January 1, 2012, and July 1, 2020, in the region Poitou-Charentes (France) were retrospectively collected from medical records. Psoriatic arthritis and systemic juvenile idiopathic arthritis were also excluded as usually treated with similar modalities to rheumatoid arthritis.

Results: Of 37 patients, mainly suffering from giant cell arteritis, 25 patients (68%) had at least 1 infectious event and 15 severe infections occurred in 6 patients (3.2/100 patient-years), mainly bacterial. Lower respiratory tract and skin were the main sites. Severe bacterial infections were associated with a marked biological inflammatory syndrome, even under a cycle of administration of tocilizumab. Two severe zonas and 1 severe diverticulitis occurred. No tuberculosis or viral hepatitis reactivation was observed.

Conclusion: The incidence rate of severe infections was 3.2/100 patient-years and seems lower than that reported in rheumatoid arthritis. C-reactive protein dosage could be helpful for the diagnosis of bacterial infectious adverse events in patients on tocilizumab. Further larger studies are needed to confirm these results to assess potential risk factors for severe infections.

Objective: The aim of the study was to investigate (1) trajectories of physical activity (PA) over 96 months and (2) study to what extent knee pain, muscle strength, physical function, and radiographic disease were associated with PA trajectories in adults with or at risk of knee osteoarthritis (KOA).

Methods: Using the Osteoarthritis Initiative (OAI) database, we described PA trajectories with the Physical Activity Scale for the Elderly (PASE) over 96 months. Knee pain was categorized into three groups: "no pain" [visual numeric pain rating scale (VAS=0)], "little to some pain" (VAS=1-3), or "moderate to severe pain" (VAS ≥ 4). Knee extensor strength was classified into high [>16.21 (men) and >10.82 (women) N/kg/m2 ] and low [12 seconds) and fast (<12 seconds) groups. Radiographic disease was classified as present [Kellgren-Lawrence (KL) ≥2] or absent (KL grade <2) of KOA.

Results: Among 3755 participants (age 61.0 ± 9.0 years, body mass index 28.5±4.8 kg/m2 , 58% female), we identified three trajectories: sedentary PA with slow decline (44.3%), low PA with slow decline (41.3%), and high PA with slow decline (14.4%). Poorer gait speed (OR: 2.32; 95% CI: 1.71-3.16), chair stand time (OR: 1.45; 95% CI: 1.07-1.96), and knee extensor strength (OR: 1.35; 95% CI: 1.03-1.76), but not pain or radiographic disease, were associated with PA trajectory of sedentary PA with slow decline.

Conclusion: Physical function and strength, but not pain and radiographic disease, were associated with a trajectory of decline in PA among adults with or at risk of KOA.

Pompe disease is a rare metabolic disorder that is characterized by the deficiency of the acid aglucosidase. As a result, glycogen accumulates in several tissues including motor neurons, skeletal, cardiac, and smooth muscles. The course of the disease varies according to the type of mutations, and the clinical phenotype can be affected by the enzyme levels. Late-onset Pompe disease (LOPD) is a challenging issue for clinicians as it has a milder phenotype with later onset of symptoms and slower disease progression. One of the most important differentials in the diagnosis of LOPD is inflammatory myositis as both diseases have some common clinical and laboratory features. Herein, we presented a 30-year-old female patient initially diagnosed as polymyositis and treated with immunosuppressive therapy without a benefit on her symptoms and later diagnosed as LOPD.

Antiphospholipid syndrome is a systemic autoimmune disorder characterized by vascular thrombosis and/or obstetric events in association with persistently elevated antiphospholipid antibodies. Antiphospholipid syndrome is typically considered a rare disease, but the true incidence is uncertain owing to the diverse antiphospholipid antibody-related clinical manifestations, inconsistent definitions of antiphospholipid antibody positivity, under-recognition of the disease, and limited population-based studies. Published estimates of the incidence of antiphospholipid syndrome range from approximately 2 to 80 per 100 000 person-years. A targeted literature review and applied methodology were performed to derive a best available estimate. Significant limitations of the published literature were observed, some of which have been previously reported. The incidence of antiphospholipid syndrome in the United States was estimated to be approximately 7.1 to 13.7 per 100 000 person-years in the general population. Although this estimate is likely more accurate than previously reported estimates, large, contemporary, population-based studies that reasonably adhere to the antiphospholipid syndrome classification criteria are needed to further refine estimates of the incidence of antiphospholipid syndrome.