Modern rheumatology case reports最新文献

Central retinal artery occlusion (CRAO) is an ophthalmic emergency characterized by sudden vision loss; it is rarely associated with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Herein, we report a case of a man in his 80s who, experiencing persistent fever, weight loss, and myalgia, received corticosteroid therapy at a local hospital for a presumptive diagnosis of polymyalgia rheumatica. While on this treatment, he suddenly developed vision loss in the left eye; visual acuity was limited to light perception, and fundus examination revealed a cherry-red spot in the macula, consistent with CRAO. The patient was urgently referred and admitted to the rheumatology department of our hospital for evaluation and management of suspected systemic vasculitis underlying CRAO. The presence of persistent fever, elevated inflammatory markers, positive myeloperoxidase-ANCA, interstitial lung disease, purpura, and small-vessel vasculitis confirmed via muscle biopsy led to the diagnosis of microscopic polyangiitis. Given this clinical course and definitive diagnosis, his initial systemic symptoms were considered early manifestations of the underlying microscopic polyangiitis. The patient was treated with methylprednisolone pulse therapy and rituximab, followed by azathioprine; the inflammatory markers improved, and visual acuity recovered to hand motion by discharge. This case highlights that when CRAO occurs alongside systemic symptoms, ANCA-associated vasculitis should be strongly considered as a potential underlying cause. Timely identification of such systemic vasculitis is crucial to enhance the possibility of visual recovery and to reduce complications affecting vital organs beyond the eye.

The patient was a 70-year-old woman. In July 2018, she developed pneumocystis pneumonia and was diagnosed with human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome. Antiretroviral therapy was continued, the HIV-RNA load was suppressed, and the CD4+cells count was maintained. In 2024, the polyarticular pain and swelling persisted. HIV-associated arthropathy, reactive arthritis, and other diseases were excluded. The patient was diagnosed with rheumatoid arthritis (RA) according to the ACR/EULAR 2010 Rheumatoid Arthritis Classification Criteria. Joint radiography revealed narrowing of the wrist joint, and joint ultrasonography showed synovial thickening and power Doppler signals, supporting the diagnosis of RA. Methotrexate was initiated, and remission was achieved and maintained. After starting methotrexate, HIV-RNA load increased transiently but rapidly decreased after that. CD4+cells count was maintained. Patients with HIV have underlying immune dysfunction, and RA requires treatment with immunosuppressants, which makes treatment challenging. Recently, HIV infection has been considered a factor that makes the diagnosis of RA difficult. When symptoms suggestive of RA are observed in HIV-infected patients, it is important to make a thorough differential diagnosis and determine a treatment plan based on the characteristics of RA complicated by HIV infection.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare necrotising vasculitis affecting small vessels accompanied by eosinophilic inflammation. Biological therapies, particularly anti-interleukin-5 (IL-5) monoclonal antibodies, have been shown to be effective in treating refractory EGPA. Mepolizumab, an anti-IL-5 monoclonal antibody, has been approved in Japan for the treatment of EGPA and has a significant glucocorticoid-sparing effect. Benralizumab, an anti-IL-5 receptor monoclonal antibody, has also been reported to reduce the glucocorticoid dose in patients with EGPA. However, several investigators have reported the development of EGPA during biologic treatment. Herein, we present a case of development of refractory EGPA under benralizumab treatment. Although the initial treatment with high-dose glucocorticoids and the administration of benralizumab were temporally effective, the patient's condition did not improve, and the eosinophil count reelevated. After switching benralizumab to mepolizumab, the patient's condition improved, and remission was achieved. Our report suggested that mepolizumab may be an effective treatment option for refractory EGPA after failure of benralizumab treatment.

Lupus podocytopathy (LP) is an increasingly recognised and histopathologically distinct entity within the spectrum of lupus nephritis (LN). It is defined by diffuse podocyte foot process effacement in the absence of subendothelial or subepithelial immune complex deposition and often mimics minimal change disease or focal segmental glomerulosclerosis. LP is typically observed at the onset of systemic lupus erythematosus (SLE) or in patients with known LN. We report a rare case of LP in a 28-year-old Japanese woman with a 12-year history of SLE and no prior renal involvement. She presented with fever, malar rash, arthralgia, and progressive bilateral lower extremity oedema. Laboratory studies revealed marked hypoalbuminemia (1.5 g/dl), nephrotic-range proteinuria (15 g/gCr), elevated anti-dsDNA antibody titers (>400 IU/ml), and hypocomplementemia. Renal biopsy revealed ISN/RPS 2018 class II LN, with mild mesangial hypercellularity and mesangial deposition of IgG, C3, and C1q, without subendothelial or subepithelial immune complexes. Electron microscopy confirmed extensive foot process effacement, establishing the diagnosis of LP. The coexistence of class II LN and LP accounted for the acute onset of nephrotic syndrome in the absence of proliferative changes. The patient was treated with methylprednisolone pulse therapy, high-dose corticosteroids, and intravenous cyclophosphamide, followed by oral cyclosporine. This regimen resulted in prompt clinical and immunological improvement, including near-complete resolution of proteinuria. She remained in remission throughout a 6-month follow-up. This case emphasises the need to consider LP in SLE patients with nephrotic syndrome, even in the absence of prior renal complications during long-term follow-up.

Eosinophilic fasciitis involves collagenous thickening of the subcutaneous fascia, hypergammaglobulinaemia, and peripheral eosinophilia, manifesting as erythema and oedema of the extremities and trunk. Rarely, it coexists with systemic lupus erythematosus. Eosinophilic fasciitis mimics scleroderma, making early diagnosis crucial. Its association with paraproteinaemia necessitates prompt recognition and treatment. Here, we report the case of a 56-year-old female with systemic lupus erythematosus in remission with methotrexate and hydroxychloroquine who presented with a 1-month history of sudden-onset, progressive skin tightening of the extremities and trunk. There was no history of Raynaud's phenomenon, digital ischaemia, or contractures. Based on histopathology and magnetic resonance imaging findings, eosinophilic fasciitis was diagnosed. She responded significantly to treatment with glucocorticoids and mycophenolate mofetil. This case adds to the evidence of eosinophilic fasciitis in lupus. The diagnosis was based on clinical, imaging, and biopsy findings, emphasizing its link to other connective tissue disorders. Future research should explore larger datasets and innovative treatments.

A 46-year-old man was diagnosed with anti jo-1 antibody-positive dermatomyositis 11 years ago and had been treated with prednisolone and tacrolimus. In the present case, after contracting SARS-CoV-2 virus infection, his dyspnoea rapidly worsened, and he presented with renal and cardiac failure. Based on the biopsy results of the same area and anti-U1-RNP antibody positivity, he was diagnosed with systemic sclerosis and scleroderma renal crisis and required haemodialysis. A renal biopsy performed later showed tubular atrophy, intratubular cell debris, and endothelial cell damage, consistent with scleroderma renal crisis. Although rapid skin hardening and high-dose glucocorticoid use are known risks for scleroderma renal crisis, scleroderma renal crisis triggered by novel SARS-CoV-2 virus infection has never been reported before and is very rare. It is crucial to identify the relationship between the scleroderma renal crisis and SARS-CoV-2 virus infection. This relationship can be explained through the RAS system, which is believed to play a role in the development of both.

Immunoglobulin G4-related disease (IgG4-RD) is a systemic rheumatic disease characterised by the infiltration of IgG4-positive plasma cells and swelling or hypertrophic lesions in various organs. IgG4-RD also involves optic lesions, which is known as IgG4-related ophthalmic disease (IgG4-ROD). IgG4-ROD involves the surrounding tissues, causing optic neuropathy when it affects the optic nerve. Impairment of the optic nerve is often progressive, with delayed diagnosis and treatment leading to permanent visual loss. However, optic neuropathy due to IgG4-RD is rare and the visual prognosis is unclear. Herein, we present a case of long-standing optic neuropathy in IgG4-ROD with loss of light perception.

Sarcoidosis is a multisystem disorder characterised by noncaseating granulomas, often involving the lungs and lymph nodes, but can affect nearly any organ. Renal involvement in sarcoidosis typically presents as hypercalcaemia or interstitial granulomatous nephritis. Renal vasculitis, however, is an exceedingly rare manifestation. We present a case of a 74-year-old Japanese male who was diagnosed with oesophageal cancer and underwent chemoradiotherapy. He presented with hypercalcaemia and renal dysfunction, and laboratory tests revealed elevated serum creatinine and hypercalcaemia. Fluorodeoxyglucose-positron emission tomography/computed tomography showed intense uptake in the gluteal and adductor muscles, with no recurrence of oesophageal cancer. A muscle biopsy confirmed non-necrotising granulomas. Despite correction of hypercalcaemia, proteinuria and renal dysfunction persisted, prompting a renal biopsy. The biopsy revealed pauci-immune vasculitis, with fibrin deposition and destruction of the vascular elastic lamina, without granulomas. The patient was treated with corticosteroids, which led to significant improvement in renal function and proteinuria. This case highlights the rare coexistence of sarcoidosis and renal vasculitis. Thus, even in the presence of mild urinary abnormalities, renal biopsy should be considered in the diagnostic approach to sarcoidosis patients with renal dysfunction.

Systemic lupus erythematosus (SLE) predominantly involves the kidneys, causing lupus nephritis (LN). Patients with diffuse proliferative LN frequently experience poor outcomes despite advances in immunosuppressive therapies. Low-density lipoprotein apheresis (LDL-A) has been a potential therapeutic option for steroid-resistant nephrotic syndromes (NSs), but its efficacy in LN remains unknown. Here, we report the case of a 26-year-old female patient with SLE and LN classified as IV + V (G) A/C according to the renal pathology society, who developed refractory NS, severe haematuria, and declining renal function. The initial induction therapy, which included hydroxychloroquine, glucocorticoids, mycophenolate mofetil, and belimumab, proved to be ineffective. Consequently, LDL-A significantly improved proteinuria, haematuria, and kidney function. The urinary protein-to-creatinine ratio decreased from 7.15 to 0.61 g/gCr, and haematuria dropped from >100 to 10-19 erythrocytes per high-power field. Additionally, complement levels were improved and anti-double-stranded DNA antibody titres were reduced. Ascribing these improvements solely to LDL-A remains challenging, but the rapid proteinuria and haematuria reduction within 48 h indicates a substantial contribution of LDL-A to the clinical response. The effluent from LDL-A contained not only LDL cholesterol but also measurable amounts of immunoglobulin G and M, which may have contributed to the reduction in LN activity. This case represents the first report of a marked haematuria reduction following LDL-A in LN. LDL-A is a valuable adjunctive treatment in patients with refractory NS or highly active LN unresponsive to standard induction therapies.

A 28-year-old woman was hospitalised with periodic quadriplegia after a common cold. Hypokalemia and acidosis were diagnosed. The anion gap was normal, but urinary potassium excretion was increased, and the patient was diagnosed with distal renal tubular acidosis. She also had severe dry eye and mouth symptoms, and an SS-A (Ro) antibody test was positive, indicating Sjögren's syndrome. A potassium derivative and sodium bicarbonate were started, and her symptoms improved. The only finding on kidney biopsy was significant fibrosis of the distal tubules. This case suggests a strong relationship between distal renal tubular acidosis findings and distal tubular damage. We report a valuable case in which renal function has been preserved for 20 years after diagnosis without administration of glucocorticoid, and only by electrolyte correction.