Modern rheumatology case reports最新文献

TAFRO syndrome, characterised by thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly, is a rare subtype of idiopathic multicentric Castleman disease. Although it is generally not associated with autoimmune diseases, cases with systemic lupus erythematosus have been reported. We report a case of a 52-year-old male with systemic lupus erythematosus complicated by TAFRO syndrome-like conditions. The patient had persistent thrombocytopenia, renal dysfunction, and fluid retention refractory to glucocorticoids, IL-6 inhibitors, and plasma exchange. Treatment with cyclosporine and belimumab was initiated due to a suspicion of aberrant B-cell activation, resulting in a 2-year remission without relapse. To explore the immunological pathogenesis, CXCL13 and BAFF levels were analysed during the clinical course. Despite interleukin-6 (IL-6) inhibitor therapy, C-X-C motif chemokine ligand 13 (CXCL13) levels remained elevated, suggesting the involvement of an alternative regulatory pathway. Both CXCL13 and B-cell activating factor (BAFF) levels decreased after treatment with cyclosporine and belimumab, and this correlated with clinical improvement. CXCL13, which is produced by peripheral helper T cells, promotes aberrant B-cell activation and lymphoid tissue formation. Meanwhile, BAFF supports B-cell survival and autoreactivity, acting alongside CXCL13 to sustain pathological B-cell activity. This case highlights the importance of therapies targeting T-cell and B-cell interactions in certain diseases with refractory conditions. Additionally, monitoring CXCL13 and BAFF may help optimise therapeutic strategies. Combination therapy with cyclosporine and belimumab effectively suppressed both cytokines, achieving sustained disease control. Future studies should utilise cytokine profiling, including CXCL13 and BAFF, to establish personalised therapeutic strategies in cases of systemic lupus erythematosus presenting with TAFRO syndrome-like conditions.

Tocilizumab (TCZ) is effective for inducing remission in adult-onset Still's disease (AOSD), but its use may occasionally trigger macrophage activation syndrome (MAS). The rationale for re-introducing TCZ in patients with a history of MAS is not well established. Here, we report a case of successful re-administration of TCZ for an AOSD relapse in a patient with a prior history of MAS during TCZ therapy. A 67-year-old woman, initially treated with TCZ for polyarthritis, developed MAS associated with AOSD. MAS was resolved with glucocorticoid pulse therapy, high-dose glucocorticoids, and cyclosporine A. However, AOSD relapsed during glucocorticoid tapering. Methotrexate, cyclosporine A, and repeated glucocorticoid pulses failed to control the disease. Following another glucocorticoid pulse, TCZ (8 mg/kg weekly) was re-introduced intravenously. This approach allowed successful glucocorticoid tapering and long-term remission. This case highlights the complexities of managing AOSD: while the initial TCZ therapy may have contributed to the onset of MAS, the subsequent re-introduction of TCZ enabled effective disease control and sustained remission.

Patients with rheumatoid arthritis (RA) receiving immunosuppressive therapy including methotrexate (MTX) are at risk of developing lymphoproliferative disorder (LPD). Herein, we report the case of a 61-year-old man who has been treated with MTX and sulfasalazine for seropositive RA since the age of 52 years. He underwent diffusion-weighted whole-body imaging with background signal suppression (DWIBS), which revealed high-intensity lesions in the affected lymph nodes of the cervical, clavicular, and axillary regions. Follow-up DWIBS after MTX withdrawal showed the suppression or disappearance of the high-intensity lesions. This case demonstrates the potential of DWIBS as a new standard imaging modality for MTX-LPD in patients with RA in clinical practice.

Skin ulcers sometimes appear in patients with antimelanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis (DM) and are usually associated with disease activity. Here, we report a case of a 41-year-old woman with anti-MDA5 antibody-positive DM, who developed refractory skin ulcers during the remission induction therapy, which were proven to be associated with clinically silent Staphylococcus aureus bacteraemia with septic thrombi in her lung. The patient was referred to our hospital for the treatment of amyopathic DM with interstitial lung disease. Anti-MDA5-positive DM was diagnosed, and she was treated with triple therapy combined with tofacitinib because poor prognostic factors existed. Although the remission induction therapy improved most of the symptoms, she developed erythematous rashes with ulcers on her left auricle and forearm, which were refractory to topical immunosuppressive medications. Despite the absence of systemic symptoms or elevated inflammatory markers, blood and wound cultures revealed S. aureus, and a new cavitary lesion was detected in her left lung. Subsequent antibiotic therapy resolved both the cutaneous and pulmonary lesions. This case highlights the importance of considering bacteraemia and performing blood cultures when DM-related skin ulcers resist conventional treatments, even without fever during immunosuppressive therapy.

The recombinant zoster vaccine (RZV) is immunologically and clinically effective in immunosuppressed patients. Though rheumatoid arthritis (RA) and the Janus kinase inhibitor (JAKi) increase the risk of herpes zoster (HZ) infection, breakthrough cases in which a HZ infection followed RZV administration are rare. We report herein a 63-year-old female patient with seropositive RA who experienced a HZ infection despite receiving the RZV. She had been receiving tocilizumab, methotrexate, and low-dose prednisolone until tocilizumab was switched to upadacitinib 4 weeks after two RZV administrations, which resulted in 63 weeks' remission. Her current admission was for a painful rash consisting of blisters and erythema on the right nasal alar and lips corresponding to the right V2 segment of the trigeminal nerve. HZ was diagnosed and treated for 7 days with intravenous acyclovir, which alleviated the symptoms. JAKi can suppress a range of immunogenic mechanisms which underlie the efficacy of the RZV. The present patient was expected to respond favourably to the RZV because JAKi had not been administered prior to the vaccinations; however, the later start of JAKi therapy caused a breakthrough HZ infection. Immunocompromised patients have a higher risk of severe HZ, including the disseminated form, but breakthrough cases are relatively rare. The RZV is recommended as prophylaxis against HZ as well as means of mitigating its severity when it does occur.

Polymyalgia rheumatica (PMR) is a common inflammatory disorder characterized by myalgia/stiffness in proximal hip and shoulder girdle, elevated C reactive protein, and erythrocyte sedimentation rate, but its pathogenesis is not fully elucidated. We report three cases of PMR who do not respond adequately to standard treatment. Those patients had typical symptoms of myalgia and muscle weakness, with elevated C reactive protein in absence of creatine kinase elevation. Muscle specimen showed the findings of vasculitis in all cases; therefore, muscular-limited vasculitis may be an underlying pathology in PMR in those refractory cases.

Myositis-specific autoantibodies found in dermatomyositis (DM) are associated with clinical symptoms and responses to therapy and are useful for diagnosis, treatment selection, and prognostication. Although the prevalence of anti-small ubiquitin-like modifier-activating enzyme (anti-SAE) antibodies in DM patients is low, clinical features such as skin symptoms preceding muscle symptoms and a higher incidence of dysphagia and malignancy have been reported. Herein, we present a case of anti-SAE antibody-positive DM in which panniculitis of the lower legs, a rare dermatological manifestation of DM, preceded muscle symptoms by 2 months. This case was associated with cervical cancer; however, the clinical course of DM was favourable with glucocorticoid monotherapy. Anti-SAE antibody-positive DM needs to be considered as a differential diagnosis of unexplained panniculitis without muscle symptoms.

Eosinophilic granulomatosis with polyangiitis is a systemic vasculitis of small- and medium-sized blood vessels. The disease can manifest itself variably, with the most commonly affected organs including the lungs, sinuses, and peripheral nervous system. Ocular involvement is rare, and the visual prognosis is generally poor. To date, only a few cases have been published describing the ocular manifestations of eosinophilic granulomatosis with polyangiitis. Given the rarity of these complications, diagnosis can be difficult. We report the case of a 60-year-old woman with a history of asthma, sinusitis, and peripheral neuropathy, who presented to our hospital with sudden loss of vision in her right eye. After referral to an ophthalmologist, a diagnosis of central retinal artery occlusion of the right eye was made. Laboratory tests showed hypereosinophilia and mild positivity for antinuclear antibodies. Imaging revealed multiple micronodules in the lung and sinusopathy. Diagnostic tests for stroke, malignancy, and infectious diseases were negative. Based on laboratory, clinical, and imaging data, the patient was diagnosed with eosinophilic granulomatosis with polyangiitis. Treatment with glucocorticoids and cyclophosphamide was started to induce disease remission. The patient achieved a clinical response to treatment with sustained normalisation of peripheral eosinophil counts and maintenance therapy with mepolizumab was initiated. Unfortunately, no improvement in visual function was observed. In patients with sudden vision loss and hypereosinophilia, eosinophilic granulomatosis with polyangiitis should be suspected. Timely diagnosis is essential to initiate appropriate treatment. However, the effect of systemic treatment on improving patients' visual function is still unclear.

Lymphoproliferative disorders are rare complications in patients with autoimmune diseases who are receiving immunosuppressive therapy. This case report describes a 74-year-old man with diffuse cutaneous systemic sclerosis (SSc), anti-RNA polymerase III antibodies, and interstitial pneumonia. The patient's condition initially improved with prednisolone and intravenous cyclophosphamide, followed by maintenance therapy with azathioprine (AZA), nintedanib, and macitentan for pulmonary hypertension. Thirty months after initiating AZA, the patient developed nodules and ulcers in the left lower jaw and philtrum. Skin biopsy confirmed diffuse large B-cell lymphoma. Discontinuation of AZA led to the resolution of the ulcers, and no other lesions were found. This case highlights the risk of iatrogenic immunodeficiency-associated lymphoproliferative disorders in patients with SSc, particularly in those with anti-RNA polymerase III antibodies, who are known to have an increased risk of malignancy. Although methotrexate-associated lymphoproliferative disorders are well documented in patients with rheumatoid arthritis, this is the first reported case of AZA-associated lymphoproliferative disorder in SSc. These findings emphasise the importance of close monitoring of malignancies, including lymphoproliferative disorders, in patients with SSc undergoing immunosuppressive therapy.

Giant cell arteritis (GCA) is an autoimmune disease that predominantly affects individuals over 50 years of age by causing inflammation typically in the temporal and cranial arteries. While glucocorticoids like prednisone are the first-line treatment for GCA, glucocorticoid monotherapy is often inadequate for preventing disease flares and is associated with significant side effects when long-term use is required, necessitating the exploration of alternative therapies. Tocilizumab (TCZ) has proven effective as a steroid-sparing agent; however, some patients may respond inadequately or develop adverse events. Treatment with the Janus kinase (JAK) inhibitor upadacitinib (UPA) has recently emerged as a potential alternative therapy for refractory GCA, and its phase III clinical trials successfully demonstrated its efficacy for GCA patients, with or without prior treatment with TCZ. It has also been recently approved by both the European Commission and the U.S. Food and Drug Administration for GCA. However, real-world data on the efficacy of UPA in GCA remain scarce. This case report describes an 82-year-old woman with GCA refractory to both prednisone and TCZ, who reported severe side effects and decreased quality of life from the latter medication. Treatment with UPA resulted in substantial improvements in symptoms, including headaches and fatigue, with minimal negative responses. This outcome demonstrates the potential of UPA as a promising treatment option for GCA patients who are unresponsive or intolerant to current standard therapies. Further real-world studies are warranted to validate UPA's long-term safety and efficacy in treating GCA.