Modern rheumatology case reports最新文献

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.

A 59-year-old man developed adult-onset Still's disease 11 days after contracting COVID-19. He presented with high fever, polyarthritis, erythema, sore throat, and high levels of C-reactive protein and ferritin; treatment with glucocorticoids and methotrexate led to disease remission. We reviewed the clinical characteristics of 12 cases (11 from the literature and the present case) of adult-onset Still's disease following COVID-19. Eight cases involved females, with a median age of 54 years (19-59 years), and the median time from COVID-19 to Still's disease onset was 12.5 days. Frequencies of high fever, arthralgia, typical skin lesion, sore throat, liver damage, and increased neutrophil count did not differ from cases of non-COVID-related adult-onset Still's disease. Serum ferritin levels were increased in all cases (median 6354 ng/ml). Complications were infrequent, with macrophage activation syndrome reported in one case. Immunosuppressive drugs and biologic agents were used in five and three cases, respectively, and all cases had good outcomes. Our review suggests that adult-onset Still's disease develops early after COVID-19, presenting with clinical findings similar to non-COVID-19-related cases, and has few severe complications and a good prognosis.

We report the case of a 39-year-old man who was admitted for evaluation of enlarged lymph nodes. A lymph node biopsy showed CD68- and 1α-hydroxylase-positive non-caseating epithelioid granuloma. Sarcoidosis was diagnosed because of mildly elevated angiotensin-converting enzyme levels and hypercalcemia. We noted tattoos (which were created 10 years earlier) on the left upper arm and forearm. It was hypothesised that some component in the tattoos had triggered a systemic foreign body reaction by macrophages, resulting in sarcoidosis. Treatment with steroids was ineffective, but additional treatment with methotrexate plus adalimumab was successful.

We report a case of a 33-year-old woman presenting with facial erythema, pharyngitis, and progressive cervical lymphadenopathy with tongue, pharyngeal, and laryngeal edema. Laboratory evaluations revealed an elevated soluble interleukin-2 receptor level, positive antinuclear, double-stranded DNA, Sjögren's syndrome-related antigen A antibodies, and decreased complement levels. Salivary gland studies confirmed Sjögren's syndrome, and together with serological findings, the patient fulfilled criteria for systemic lupus erythematosus. Although Positron emission tomography-computed tomography findings raised suspicion for malignant lymphoma, a cervical lymph node biopsy demonstrated interfollicular expansion, proliferation of small blood vessels with prominent endothelial cells, and large immunoblasts, consistent with atypical lymphoplasmacytic and immunoblastic proliferation. Despite clinical evidence of angioedema on endoscopic examination, complement levels and C1-inhibitor activity were normal, suggesting a non-complement-mediated mechanism. The patient was initially treated with hydroxychloroquine for systemic lupus erythematosus; however, worsening symptoms required prednisolone therapy, leading to significant clinical improvement. Recurrence during steroid tapering was managed by adjusting the steroid dose and adding mycophenolate mofetil. This case emphasises the importance of comprehensive evaluation to differentiate atypical lymphoplasmacytic and immunoblastic proliferation from malignant lymphoma and to recognise atypical acquired angioedema in autoimmune disease.

Primary angiitis of the central nervous system (PACNS) is a rare inflammatory vasculitis localised to the central nervous system. Treatment of severe PACNS often includes glucocorticoids and cyclophosphamide; however, some cases exhibit resistance to glucocorticoids, leading to severe neurological sequelae. In this case report, a 14-year-old female patient presented with fever, headache, and short-term memory loss. Her blood test results showed no significant abnormalities. HLA-B51 and A26 were both positive. Cerebrospinal fluid examination showed no elevated interleukin-6. Brain magnetic resonance imaging with fluid-attenuated inversion recovery sequences demonstrated hyperintense signals in the bilateral basal ganglia, left thalamus, and insula. Contrast-enhanced T1-weighted imaging showed peripheral enhancement of the lesions. Given the possibility of a demyelinating disorder, glucocorticoids were administered. However, the patient remained febrile, and magnetic resonance imaging (MRI) revealed disease progression. To differentiate infectious and malignant diseases, a biopsy of the left thalamic lesion was performed. Histopathological examination revealed coexisting lymphocytic and granulocytic vasculitis affecting small arteries and arterioles. Based on the clinical course and laboratory results, the patient was diagnosed with PACNS. Despite intravenous immunoglobulin, intravenous cyclophosphamide, and rituximab, the patient became comatose, and the brain MRI worsened. Following infliximab, clinical symptoms and brain MRI improved. The clinical course suggests that infliximab was effective for this patient with glucocorticoid-resistant PACNS. As potential associations have been previously reported between HLA-B51/A26 and vasculitis in Behçet disease, our case may suggest a pathophysiological link between vascular-BD and a subset of PACNS, which may also explain the good clinical response to infliximab. Further research is warranted to address this hypothesis.

We report a rare case of severe osteolysis following metacarpophalangeal (MP) joint arthroplasty using silicone implants in a patient with rheumatoid arthritis. A 72-year-old woman presented with painless masses on the dorsum of the left hand 6 years after MP joint arthroplasty using Sutter-type silicone implants. Radiographic evaluation revealed implant-associated osteolysis and cortical perforation of the second to fifth metacarpals. Revision arthroplasty was performed using grommet-equipped Swanson-type silicone implants combined with synovectomy and iliac bone grafting for severe palmar bone loss. One year later, similar osteolysis occurred in the right hand, and revision arthroplasty was again performed using Swanson-type implants without the need for bone grafting. The postoperative course was uneventful, and no recurrence of osteolysis or implant-related complications was observed over a 7-year follow-up period. Silicone synovitis is a recognised complication of silicone implant arthroplasty, caused by wear debris triggering chronic inflammation and bone resorption. This case highlights the importance of early detection and intervention for implant-related osteolysis. In cases where bone defects remain manageable, revision with grommet-equipped silicone implants can be a viable and durable treatment option. Surgeons should be aware of this potentially severe complication, as delayed intervention may preclude the use of silicone implants altogether due to extensive bone loss.

IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory condition characterised by distinctive histopathological features and diverse clinical presentations. Although it is frequently associated with bilateral swelling of the lacrimal and submandibular glands, it has occasionally been reported to affect adnexal tissues, such as infraorbital nerve enlargement (IONE), which has not yet been well recognised. A 54-year-old woman presented with purpura. Laboratory investigations revealed eosinophilia, elevated serum creatinine, hypergammaglobulinemia with markedly elevated serum IgG4 levels (2 924 mg/dl), and hypocomplementemia, along with increased levels of β2-microglobulin and N-acetyl-β-D-glucosaminidase in her urine. Computed tomography revealed the presence of bony tunnel-like structures bilaterally in the infraorbital region, measuring up to 12 mm in diameter. Renal biopsy showed bird's-eye pattern fibrosis and marked infiltration of IgG4-positive plasma cells within the tubulointerstitium. Although an infraorbital nerve biopsy was not performed, the patient was diagnosed with IgG4-RD with tubulointerstitial nephritis, clinically complicated by IONE. Treatment with high-dose glucocorticoids and rituximab led to improvement in the renal manifestations; however, IONE remained unchanged even after six months of treatment. This case highlights an important aspect of IONE in IgG4-RD and offers insights into its clinical diagnosis and management.