Modern rheumatology case reports最新文献

Ankylosing spondylitis (AS) is a chronic inflammatory disease that typically affects the axial skeleton. Renal involvement is rare in AS, only occurring in 5-13% of AS patients. Membranous nephropathy (MN) in patients with AS is extremely rare. There have been only a few cases showing the association between MN and AS. Herein we report a case of AS-associated MN in a 47-year-old male. He was diagnosed with AS-associated MN after renal biopsy, and he was treated with corticosteroids and cyclophosphamide. His low back pain and oedema disappeared gradually and serum albumin and urine protein excretion significantly improved after treatment. In clinical practice, AS patients with proteinuria or renal dysfunction should be evaluated for MN through ‌serum anti-phospholipase A2 receptor autoantibody (anti-PLA2R antibody) testing‌ and ‌renal biopsy‌ to confirm diagnosis.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs, including the kidneys, skin, vasculature, and central nervous system. Neuropsychiatric SLE (NPSLE) is a potentially life-threatening manifestation with diverse clinical presentations. We report a case of NPSLE presenting as myelitis in which contrast-enhanced spinal MRI showed no intramedullary abnormalities on repeated examinations ('MRI-negative myelitis'). The patient received high-dose intravenous glucocorticoids (GCs) and intravenous cyclophosphamide as induction therapy, after which anifrolumab was introduced; GCs were rapidly tapered with sustained neurological improvement. MRI-negative myelitis is a rare and diagnostically challenging NPSLE phenotype that requires a high index of suspicion. This case suggests that anifrolumab may have GC-sparing potential as part of maintenance management following induction therapy in selected patients, warranting further investigation.

Commonly, acquired pure red cell aplasia (PRCA) can be associated with an underlying autoimmune disease. Reports of PRCA associated with systemic lupus erythematosus (SLE) are rare, and no treatment strategies have been documented. We report a case of PRCA associated with SLE that responded to intravenous cyclophosphamide (IVCY) and systemic corticosteroids. A 62-year-old Japanese female was diagnosed with PRCA and SLE. At the time of the initial visit, the patient simultaneously presented with severe proteinuria, massive pleural effusion, and interstitial changes. Notably, cyclosporine and corticosteroids did not improve PRCA and SLE status of the patient. After IVCY and corticosteroid administration, the patient's reticulocyte count and anaemia improved. Various other symptoms associated with SLE also improved. Cyclophosphamide is typically administered in PRCA in small, continuous oral doses. However, in this case, we did not need to initiate this continuous, low-dose treatment after IVCY. Overall, this study highlights therapeutic strategies involving IVCY in treating PRCA associated with SLE.

Macrophage activation syndrome (MAS) with hypoplastic marrow is a rare but life-threatening presenting manifestation of systemic lupus erythematosus. Lupus orbitopathy is also very rarely reported in the literature. We hereby report for the first time a 19-year-old girl who had a unique combination of MAS, with hypoplastic marrow and orbitopathy as a presenting feature of lupus. We discussed in detail our patient's demographic characteristics, clinical features, treatment, and outcome. Our patient responded well to high-dose glucocorticoids along with 6 monthly doses of intravenous cyclophosphamide as per the modified National Institute of Health protocol followed by tacrolimus as maintenance treatment. Her prednisolone dose could be tapered to 7.5 mg daily after 8 months of treatment. We made a search on PubMed and Scopus for a literature review. We obtained 15 cases of MAS as a presenting feature in lupus, of which four had associated hypoplastic marrow. Males and juvenile age groups were equally affected with MAS as a presenting feature of lupus. Most of the patients responded to high-dose glucocorticoids. Only one patient succumbed to MAS. We also reviewed 14 cases of lupus orbitopathy with their clinical, and imaging characteristics, treatment, and outcome. Females predominated in these cases with the mean age being 43.6 years (SD ± 16.9 years). Treatment with glucocorticoids and immunosuppressive agents lead to complete resolution in most patients. The diagnosis of MAS with orbitopathy as a presenting feature of lupus in a 19-year-old girl poses a diagnostic challenge and requires the prompt exclusion of the common mimickers before initiation of aggressive immunosuppression.

Immune checkpoint inhibitors are widely used in clinical practice, necessitating appropriate management of immune-related adverse events (irAEs). Although severe neurologic irAEs are less common, they often lead to poor outcomes, requiring early detection and prompt intervention. An 88-year-old woman with invasive urothelial carcinoma received six cycles of gemcitabine plus carboplatin followed by avelumab, an anti-programmed cell death ligand 1 antibody, as maintenance therapy. One week later, she developed progressive limb weakness and was diagnosed with irAE myositis based on elevated creatine kinase (CK) levels and imaging findings. Early treatment with methylprednisolone pulse therapy, followed by prednisolone [1 mg/kg body weight (BW)], led to rapid improvement, and no relapse occurred after prednisolone completion at 4 months. IrAE myositis has clinical, pathological, and immunological features that differ from those of known inflammatory muscle diseases. In this case, the time to onset and the presence of antistriational antibodies were consistent with previous reports focusing on anti-programmed cell death 1 antibodies, whereas ocular symptoms, myocarditis, and myasthenia gravis, which are considered characteristic of irAE myositis, were not observed. Given the expected increase in high-grade neurological irAEs, accumulating case reports is essential to better understand the differences in clinical presentation and prognosis, which may vary depending on drug-specific effects and autoantibody profiles. Furthermore, this case suggests that some patients with irAE myositis may successfully taper or discontinue prednisolone earlier than traditionally expected.

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.

A 31-year-old woman visited our hospital with swelling and pain in both forearms of 2 months' duration, followed by swelling and pain in both thighs. Her medical history included bronchial asthma at the age of 18 years. After the birth of her first child at 30 years of age, her asthma worsened and was accompanied by abdominal pain and skin rash, with no identifiable cause. Blood testing showed eosinophilia and high muscle enzyme activities, but she was anti-neutrophilic cytoplasmic antibody (ANCA)-negative. Magnetic resonance imaging of her forearms and thighs revealed strong signals on T2-weighted images in the fascia and muscle. Skin-to-muscle en bloc biopsy showed eosinophilic infiltration of muscle and small vessels. She was diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA), complicated by myositis, although EGPA is usually accompanied by ANCA-positivity in approximately half of cases. Treatment was started with prednisolone alone at 0.5 mg/kg/day, and her symptoms and eosinophil count quickly improved. Clinicians should note the possibility of ANCA-negative EGPA complicated by myositis.

A paradoxical reaction refers to a response opposite to the expected effects of drug therapy. Cutaneous paradoxical reactions, which occur with the use of immunosuppressive drugs, are believed to result from treatment-induced cytokine imbalances. These reactions can manifest as various dermatological conditions, including psoriasis and palmoplantar pustulosis. Currently, no established guidelines exist for reducing or discontinuing biologics in patients with rheumatoid arthritis who experience paradoxical reactions, posing a significant challenge for clinicians managing dermatitis and the underlying diseases. This case report presents two cases of patients with rheumatoid arthritis who developed palmoplantar pustulosis as a paradoxical reaction after treatment with golimumab, a tumour necrosis factor inhibitor. Both patients achieved remission of joint and skin symptoms following treatment with peficitinib, a Janus kinase inhibitor. To the best of our knowledge, this is the first report documenting the successful treatment of paradoxical reaction-induced palmoplantar pustulosis with peficitinib. These findings suggest that peficitinib could serve as an effective alternative when tumour necrosis factor inhibitors are no longer viable. Thus, peficitinib may be a potential therapeutic option for the management of rheumatoid arthritis patients with palmoplantar pustulosis.

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.