Reumatismo最新文献

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in pediatric patients. It is clinically characterized by fever flares lasting 3-7 days, reappearing every 2-8 weeks with a distinctive clockwork regularity. PFAPA generally begins before 5 years of age and usually ceases 3-5 years after onset. Recurrences may be observed in adolescence and adulthood in up to 20% of cases. The authors aim to describe a case of PFAPA recurrence in adolescence temporally associated with allergen-specific immunotherapy (ASIT). A 16-year-old female patient was referred to the rheumatology unit due to recurrent episodes of fever one month after initiating ASIT for allergic rhinitis. These episodes occurred every 4 weeks and lasted 3 days. During these episodes, she also presented with a sore throat, tonsillar exudates, and cervical lymphadenopathy. Abortive treatment with oral prednisolone was attempted in these episodes, with complete resolution of fever after a single dose. After reviewing her medical background, she had previously experienced febrile episodes accompanied by aphthous ulcers and tonsillar exudates occurring every 7-8 weeks from age 2-7. The etiopathogenesis of PFAPA remains uncertain. Environmental triggers, particularly those with immunomodulator effects, may interfere with the immune responses responsible for PFAPA occurrence, but the mechanisms are still unclear. The authors describe the first report of the reappearance of PFAPA flares, possibly due to ASIT. Further studies are needed to fully clarify if ASIT constitutes a true environmental trigger of PFAPA.

Objective: To compare etanercept and adalimumab biosimilars (SB4 and ABP501) and respective bioriginators in terms of safety and efficacy in a real-life contest.

Methods: We consequently enrolled patients affected by rheumatoid arthritis, psoriatic arthritis, and ankylosing spondylitis, treated with SB4, and ABP501, or with corresponding originators, belonging to the main biological prescribing centers in the Lazio region (Italy), from 2017 to 2020. Data were collected at recruitment and after 4, 8, 12, and 24 months of therapy.

Results: The multicenter cohort was composed by 455 patients treated with biosimilars [SB4/ABP501 276/179; female/male 307/146; biologic disease-modifying anti-rheumatic drug (b-DMARD) naïve 56%, median age/ interquartile range 55/46-65 years] and 436 treated with originators (etanercept/adalimumab 186/259, female/ male 279/157, b-DMARD naïve 67,2%, median age/interquartile range 53/43-62 years). No differences were found about safety, but the biosimilar group presented more discontinuations due to inefficacy (p<0.001). Female gender, being a smoker, and being b-DMARD naïve were predictive factors of reduced drug survival (p=0.05, p=0.046, p=0.001 respectively). The retention rate at 24 months was 81.1% for bioriginators and 76.5% for biosimilars (median retention time of 20.7 and 18.9 months, respectively) (p=0.002). Patients with remission/low disease activity achievement at 4 months showed a cumulative survival of 90% to biosimilar therapy until 24 months (p=0.001); early adverse reactions instead represented a cause of subsequent drug discontinuation (p=0.001).

Conclusions: Real-life data demonstrated a similar safety profile between biosimilars and originators, but a reduced biosimilar retention rate at 24 months. Biosimilars could be considered a valid, safe, and less expensive alternative to originators, allowing access to treatments for a wider patient population.

Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited autoinflammatory disease characterized by systemic inflammation and immunodeficiency. Infliximab proved to be favorable in the treatment of this condition. This case report is concerned with a DADA2 deficient patient treated with infliximab. This is a rare case of DADA2 in a 32-year-old female patient. The patient was admitted with a clinical presentation of erythema, ulcers, and pruritus on both legs and ankles, accompanied by red ulcerative oral lesions, fatigue, malaise, and dizziness. The patient's genetic analysis was positive for DADA2. Treatment based on TNF-α inhibition was highly effective for this patient. We used laboratory testing and punch biopsy as differential diagnostic tools, where antinuclear antibody positivity, high prolactin levels, and high serum C-reactive protein were observed. The punch biopsy revealed both orthohyperkeratosis and parahyperkeratosis of the dermis, diffuse core fragments, plasma in the stratum corneum, and hypergranulous acanthosis. DADA2 treatment is centered on tumor necrosis factor α suppression. Although high-dose systemic glucocorticoids can reduce inflammation in the initial stages of the disease, most patients have a resistant or relapsing response to tapering attempts. The prevalence of undiagnosed cases of autoinflammatory diseases is anticipated to diminish with the growing awareness of them.

We report the case of a 54-year-old woman with antineutrophilic cytoplasmic antibody-negative eosinophilic granulomatosis with polyangiitis presenting with mononeuritis multiplex, intestinal hemorrhage, cardiomyopathy, fever, and worsening asthma symptoms. She was initially treated with steroids and cyclophosphamide but eventually required rituximab to control a vasculitis flare. However, her asthmatic symptoms did not improve, despite attaining vasculitis remission. Symptoms abated only after the treatment transition to mepolizumab. After a 1-year interval, there were no further episodes of asthma exacerbation and no requirement for systemic steroid therapy. This report reinforces the use of rituximab for induction and maintenance of remission in patients with eosinophilic granulomatosis with polyangiitis and predominant vasculitic manifestations, whereas mepolizumab demonstrated better control of the persistent eosinophilic manifestations, ensuing sustained remission and improved quality of life.

Lumbar pain is a very common symptom that derives from benign musculoskeletal conditions, rheumatic inflammatory diseases, neoplasms, and referred and/or nociplastic pain. A 70-year-old man with psoriatic arthritis presented with early-onset lumbosacral pain without evident red flags. Symptomatic treatment was unhelpful. Radiographic imaging showed subtle signs of a disease that could easily be missed. Magnetic resonance imaging revealed a massive prostatic malignancy with bone (sacral and iliopubic) metastasis. Awareness must be given not to disregard every lumbar pain as part of the preexisting rheumatic inflammatory disease (spondyloarthropathy in this case) or a common muscle/ligament/articular disarrangement. Persistence of pain, albeit not inflam-matory nor sharp in nature, despite adequate treatment might be just as important as an acute red flag and requires proper follow-up.

Following the restrictions on the reimbursability of Janus kinase inhibitors introduced by the Italian Medicines Agency, the Italian Society of Rheumatology has drafted this document to shed light on the clinical conditions and reimbursability criteria set out in the prescription forms.

Restless legs syndrome (RLS) is a chronic movement disorder characterized by an urge or need to move the limbs, usually associated with uncomfortable sensations in the legs and sleep disorders. In general, two clinical forms of RLS are described: primary and secondary. Although primary RLS has a familial component, the underlying mechanism is still not fully understood but seems to be related to abnormalities in the dopaminergic and glutamatergic pathways of the central nervous system. The secondary forms of the syndrome are associated with iron deficiency, renal failure, pregnancy, diabetes mellitus, peripheral neuropathy, and several rheumatologic disorders such as rheumatoid arthritis and Sjögren's syndrome. In a few clinical trials, an increased frequency of RLS has been reported in patients with spondyloarthritis. In this report, a case of coexistence of spondyloarthritis and RLS is presented, showing satisfactory improvement with conservative treatment and additionally adding naproxen. Anemia of chronic disease occurring in rheumatic diseases, and associated iron deficiency may contribute to the development of RLS.

Idiopathic immune myopathies (IIMs) are autoimmune diseases caused by immune-mediated muscle damage. The etiology remains unclear. Epidemiological and experimental studies, both in animals and humans, hint at viruses as major environmental factors able to trigger aberrant immune responses through many different mechanisms. However, only a few cases of either dermatomyositis or polymyositis following a specific viral infection have been reported in the literature. The objective of this study is to describe the clinical features and the treatment strategy of 2 cases of polymyositis developing shortly after chickenpox and mumps, respectively, and to review the existing literature on the topic. The clinical records of the 2 patients suspected to have developed inflammatory myositis following a viral infection were reviewed. Their clinical history, main laboratory findings, and treatment outcome are presented here. Moreover, a literature search was performed in the PubMed and MEDLINE databases to identify reports describing the association between viral infections and IIMs in patients aged ≥18. The 2 patients reported here developed polymyositis shortly after chickenpox and mumps, respectively, suggesting a causal role for viruses in triggering autoimmunity. Only a few reports published between 1990 and 2020 were found in the literature, possibly linking infections to myositis development. Intravenous immunoglobulin and rituximab were effective for the treatment of viral-triggered polymyositis.

Acquired hemophilia A (AHA) is a rare autoimmune disorder with unpredictable hemostasis that is caused by autoantibody formation against coagulation factor VIII. AHA can occur in the context of autoimmune inflammatory rheumatic disorders. Here we report the case of a 62-year-old female with an 11-year history of rheumatoid arthritis (RA) who presented with cutaneous and mucosal bleeding. Activated partial thromboplastin time was prolonged and not corrected by the mixing test. Factor VIII activity was decreased, and the anti-factor VIII antibody was positive. AHA associated with RA was diagnosed. The patient was treated with rituximab 500 mg weekly for 4 doses and prednisolone 10 mg/daily. The patient did not experience bleeding events after treatment, and factor VIII activity and inhibitor normalized. At the end of the article, we discuss similar cases of RA-associated AHA.

We report a case of eosinophilic fasciitis in a teenage auto mechanic who was most likely affected by occupational exposure to organic solvents, including the aromatic hydrocarbons benzene, trimethylbenzene, naphthalene, toluene, and xylene. The patient presented with an 8-month history of painful induration of his extremities and an abnormal gait. A deep excisional biopsy of the fascia was obtained, demonstrating subcutaneous fibrosis with perivascular and interstitial inflammation, with lymphocytes and plasma cells spilling into the sclerosed fascia, and focal fibrinoid necrosis. Treatment was begun with intravenous pulse doses of methylprednisolone, prednisone (20 mg daily), and subcutaneous methotrexate (25 mg weekly), and the patient's painful induration had resolved and gait had normalized at the 6-month follow-up. Our case suggests that exposure to organic solvents could be implicated in the pathogenesis of eosinophilic fasciitis and highlights the importance of a thorough occupational history to prevent repeat exposures to potentially causative agents.