Modern rheumatology case reports最新文献

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory demyelinating disease primarily affecting the optic nerves and spinal cord. Polymyositis (PM) is an idiopathic inflammatory myopathy characterized by proximal muscle weakness. The anti-signal recognition particle (SRP) antibody is a myositis-specific autoantibody. We herein present a case of anti-SRP antibody-positive PM that developed 6 years after the onset of NMOSD. A 52-year-old woman was diagnosed with NMOSD 6 years previously based on left visual disturbance, a high signal intensity and contrast enhancement of the optic nerve on short τ inversion recovery (STIR)-magnetic resonance imaging (MRI), and anti-aquaporin 4 antibody positivity. She received methylprednisolone pulse therapy followed by oral prednisolone (PSL) at a starting dose of 40 mg daily. Three years later, due to recurrent numbness in the left lower limb and difficulty in reducing the PSL dose to ≤10 mg/day, satralizumab was initiated. At 52 years old, she developed myalgia and muscle weakness in both thighs. PM was diagnosed based on an elevated serum creatine kinase level, anti-SRP antibody positivity, high signal intensities in the right triceps and bilateral adductor muscles on STIR-MRI, and muscle biopsy findings. Treatment with high-dose PSL and tacrolimus markedly attenuated her symptoms. Satralizumab was continued for NMOSD stabilisation. Previous studies reported the coexistence of NMOSD and autoimmune diseases; however, NMOSD with PM/DM is rare. We described a case of NMOSD with anti-SRP antibody-positive PM and provided a literature review.

Granulomatosis with polyangiitis (GPA) is a small-to-medium vessel vasculitis usually presenting with upper airway, pulmonary, and renal involvement. Critical limb ischaemia (CLI) and arterial thrombosis are rare but severe complications of GPA, often resulting in poor prognosis and limb loss. We describe a 34-year-old woman presenting with right upper limb CLI on a background of GPA, manifesting as fever, purpura with upper airway, pulmonary, and renal involvement. Investigations confirmed proteinase-3 anti-neutrophil cytoplasmic antibody positivity, elevated inflammatory markers, proteinuria with active urinary sediment, and imaging revealed pulmonary infiltrates with sinus involvement. She received IV steroids and rituximab but developed acute limb-threatening ischaemia due to brachial artery thrombosis. Immediate thrombectomy with thrombolysis restored blood flow and prevented amputation. Available literature highlights the extreme rarity of CLI in GPA (<1%), with most reported cases resulting in limb loss despite immunosuppression. Prompt diagnosis using Doppler/angiogram and urgent surgical intervention, in conjunction with immunosuppression, is critical for limb salvage. This case underscores the importance of early recognition and combined surgical-medical management in GPA presenting with arterial thrombosis and CLI, which can successfully preserve limb function and improve outcomes.

A 60-year-old Japanese man developed a protruding right eye. He underwent a magnetic resonance imaging scan, which revealed a right orbital mass. The serum immunoglobulin G4 (IgG4) level was elevated, and IgG4+ plasma cells were observed in biopsy specimens of the mass. The result of biopsy and Southern blot analysis revealed that the mass was caused by IgG4+ extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue. He received a total of 36 Gy of radiation therapy, and the mass disappeared. Five years later, he developed a protruding left eye. The magnetic resonance imaging scan at that time revealed a left orbital mass. Biopsy revealed findings of IgG4-related disease in the left orbital mass, but no findings of mucosa-associated lymphoid tissue lymphoma. He has been followed up without glucocorticoid treatment. Here, we report a patient who developed IgG4+ MALT lymphoma in the right orbital mass and IgG4-related ophthalmic disease in the left orbital mass. Because the treatment strategy for IgG4-related ophthalmic disease and malignant lymphoma is completely different, we emphasise the need for biopsy.

Granulomatosis with polyangiitis is a necrotising small vessel vasculitis characterised by granulomatous inflammation that can involve the eyes, ear-nose-throat region, and lungs, often refractory to standard immunosuppressive therapies such as glucocorticoids, rituximab, and cyclophosphamide. The complex immunopathogenesis of granulomatous lesions, involving neutrophil swarming, macrophage activation, T-cell responses, and complement activation through the C5a receptor, contributes to treatment challenges. Avacopan, an oral C5a receptor antagonist, has demonstrated efficacy in antineutrophil cytoplasmic antibody-associated vasculitis, particularly in kidney involvement, with evidence of glucocorticoid-sparing benefits from the ADVOCATE trial. However, data on its role in granulomatous manifestations remain limited. We report two cases of severe, refractory granulomatosis with polyangiitis with ocular, ear-nose-throat, and pulmonary granulomatous disease unresponsive to standard therapies but achieving complete clinical and immunological remission with avacopan. Both patients successfully discontinued glucocorticoids and showed marked clinical improvement and radiological resolution of lesions. These cases, supported by recent trial sub-analyses, suggest that avacopan may be an effective therapeutic option for granulomatous granulomatosis with polyangiitis manifestations, enabling glucocorticoid reduction and improved disease control.

Chorea is a movement disorder observed in 1-2% of systemic lupus erythematosus (SLE) cases. Treatment options include anticonvulsants, dopamine antagonists, antiplatelets, anticoagulants, and immunosuppressants such as cyclophosphamide; however, no specific treatment has been established. Here, we report the case of a 76-year-old woman with chorea associated with antiphospholipid antibodies as well as SLE, who exhibited marked improvement both clinically and serologically following initial treatment with glucocorticoids and subsequent combination therapy with hydroxychloroquine and belimumab. In parallel with the decline in the chorea severity score, all tested antiphospholipid antibodies decreased after treatment, with the normalisation of activated partial thromboplastin time (from 70 to 25 s), anti-β2-glycoprotein I IgM (from 22 to 12 U/ml), and phosphatidylserine-dependent antiprothrombin IgG (from 58 to 15 U/ml). A systematic literature review revealed no previously reported cases of chorea associated with SLE treated with a combination of hydroxychloroquine and belimumab. Our case suggests that this combination therapy may have a role in maintaining remission and modulating the antiphospholipid autoimmunity of SLE-associated chorea.

Behçet's disease (BD) is a multisystem inflammatory disorder in which innate immune dysregulation has been increasingly recognised as a key pathogenic feature, and MEFV variants have also been implicated in its pathogenesis. We describe the case of a 51-year-old Japanese woman with incomplete BD who developed large-vessel vasculitis during treatment with low-dose glucocorticoids and colchicine. She had a history of recurrent abdominal pain associated with menstruation and two episodes of aseptic meningitis since childhood, but she had never experienced periodic fever. Genetic analysis revealed compound heterozygous MEFV variants (E148Q in exon 2 and M694I in exon 10). An 18F-fluorodeoxyglucose positron emission tomography/computed tomography demonstrated aneurysms of the brachiocephalic and bilateral subclavian arteries with patchy fluorodeoxyglucose uptake, indicating active vasculitis consistent with BD rather than familial Mediterranean fever. Infliximab therapy was initiated for BD-associated vasculitis, resulting in the rapid normalisation of C-reactive protein and successful tapering of prednisolone. This case suggests that MEFV variants may contribute to an autoinflammatory background that predisposing to vascular involvement in BD, even in the absence of clinical familial Mediterranean fever. The association between MEFV variants and vascular involvement in BD remains controversial, and it has not been consistently demonstrated in Japanese populations, where both the clinical features and genetic background of familial Mediterranean fever differ from those of Eastern Mediterranean patients. This case may, therefore, provide further insight into the role of MEFV variants in the pathogenesis of vascular involvement in BD, particularly in Japanese patients.

Sclerosing mediastinitis (SM) is a rare condition characterised by extensive fibrous proliferation within the mediastinum. While some patients remain asymptomatic, others may present with chest pain, dyspnoea, haemoptysis, or complications such as superior vena cava syndrome or pulmonary hypertension. The aetiology of SM may be caused by infections, malignancies, autoimmune diseases, radiation therapy, or have idiopathic origins. We present a case of a 55-year-old man diagnosed with SM and granulomatosis with polyangiitis. The patient initially presented from an outside hospital with a large periaortic soft tissue mass, accompanied by symptoms of cough, shortness of breath, haemoptysis, and joint pain. Laboratory findings revealed elevated inflammatory markers and positive antineutrophil cytoplasmic antibody targeting proteinase-3. Imaging studies demonstrated abnormal mediastinal soft tissue encasing the thoracic aorta with subcarinal lymphadenopathy. Biopsy of the mass confirmed fibrotic tissue consistent with SM, and kidney biopsy revealed crescentic glomerulonephritis indicative of granulomatosis with polyangiitis. Treatment involved high-dose corticosteroids and rituximab, leading to significant improvement in overall patient status. The patient's follow-up revealed sustained remission, with resolution of lung infiltrates and decreased mediastinal mass size. Although the association between SM and antineutrophil cytoplasmic antibody-associated vasculitis remains unclear, our case highlights the importance of considering both diagnoses in a presentation of mediastinal fibrosis. Further research is warranted to clarify optimal management strategies for these rare conditions.

Neutrophilic dermatoses (NDs) are a heterogeneous group of inflammatory skin disorders marked by dense, sterile neutrophilic infiltrates. Rheumatoid neutrophilic dermatitis (RND), a rare subtype, is uniquely associated with rheumatoid arthritis (RA) and typically presents in patients with severe seropositive disease. Here, we report a rare case of bullous RND in a 67-year-old male with chronic seropositive nodular RA, temporally triggered by the interleukin-6 inhibitor tocilizumab. The patient developed a recurrent bullous eruption following successive tocilizumab infusions, confirmed by histopathology as RND. Despite corticosteroid therapy and colchicine, his symptoms persisted. Discontinuation of tocilizumab and initiation of etanercept resulted in rapid and sustained resolution of both cutaneous and articular symptoms. This case represents only the second reported incidence of tocilizumab-induced RND and one of very few cases demonstrating a steroid-refractory bullous phenotype that responded exclusively to TNF-α inhibition. It underscores the complex and sometimes paradoxical effects of biologics, which may both treat and trigger neutrophilic dermatoses. Our findings support the importance of recognising biologic-induced cutaneous adverse effects and tailoring management strategies accordingly. Early identification through skin biopsy, prompt discontinuation of the offending agent, and consideration of targeted immunomodulators such as tumour necrosis factor-alpha inhibitors are critical in managing drug-induced RND. Continued documentation of such cases will enhance understanding of paradoxical inflammatory responses to biologic agents and inform future therapeutic approaches in patients with autoimmune diseases.

Biologic agents have demonstrated efficacy in the treatment of refractory Takayasu arteritis (TAK). Although vascular stenosis is a common manifestation of the chronic phase of TAK, evidence on the effects of biologic therapy on established vascular lesions remains limited. Here, we report a case series of TAK in which chronic arterial stenosis showed marked improvement following treatment with biologic agents. The first case was a 27-year-old woman with stenosis of the left common carotid artery. Initial treatment with prednisolone (PSL) led to clinical improvement; however, the vascular lesion progressed during tapering, despite the normalisation of inflammatory markers. Reinduction with a methylprednisolone pulse and methotrexate led to slight improvement. Subsequent therapy with tocilizumab, followed by golimumab, resulted in significant and sustained improvement in the stenosis. The second case was a 20-year-old woman with wall thickening of the right brachiocephalic artery. Although PSL and methotrexate were initially administered, the progression of left subclavian artery stenosis was detected on ultrasonography before symptom onset, despite normalised inflammatory markers. The introduction of tocilizumab, with increased PSL, led to a notable improvement in the vascular lesions. These cases and a literature review suggest that biologic agents may reverse vascular remodelling in chronic TAK, even in the absence of systemic inflammatory activity. Comprehensive disease assessment using imaging modalities, alongside serum biomarkers, is essential to guide therapeutic decisions and monitor vascular changes. These findings highlight the importance of imaging-based disease monitoring and raise the potential for targeted treatment strategies aimed at both inflammation control and vascular lesion modification.

The diagnostic criteria for TAFRO syndrome exclude autoimmune diseases, and they have been considered to be mutually independent. However, several cases of autoimmune diseases with TAFRO signs have been reported in recent years. Also, similarities in cytokine profiles in COVID-19 and TAFRO syndrome have been previously reported. Our patient, a 53-year-old Japanese man, was diagnosed with COVID-19 and had a persistent fever. Two weeks later, pain, numbness, and oedema appeared, mainly in the right lower leg but gradually spreading to the distal extremities. Subsequently, purpura appeared on his forearms and lower legs, and 10 weeks after the COVID-19 diagnosis he presented to our hospital. On admission, in addition to fever, polyangiitis, and purpura of the extremities, he had splenomegaly, lymphadenopathy, and anasarca. Skin and renal histopathology revealed fibrinoid necrotising vasculitis of small and medium-sized arteries. In addition, his platelet count was low, Alkaline phosphatase (ALP) was elevated, and there was anasarca, fever, and renal failure. A diagnosis of polyarteritis nodosa with TAFRO signs was made. On the 20th day of admission, high-dose glucocorticoids and high-dose intravenous cyclophosphamide were started. The platelet count initially improved, with gradual improvement of vasculitis and symptoms of fever, purpura, and neuropathy. However, there was another decrease in platelets, progression of renal dysfunction, and worsening of fluid retention. Tocilizumab was added, but the disease could not be controlled, and on the 51st day, necrotising fasciitis developed and the patient died. This case suggests that COVID-19, TAFRO syndrome, and vasculitis may be interrelated in their pathogeneses.