Modern rheumatology case reports最新文献

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.

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.