Modern rheumatology case reports最新文献

Schnitzler syndrome (SchS) is a rare autoinflammatory disorder characterised by recurrent urticaria, monoclonal gammopathy, fever, and arthralgia. We herein report a case of SchS complicated by rheumatoid arthritis (RA). A 78-year-old man presented to our hospital with fever, myalgia, and urticaria, each lasting for ~1 week over the past 8 years. He was diagnosed with SchS based on monoclonal immunoglobulin G gammopathy, chronic urticaria, an intermittent fever, arthritis, high inflammatory markers, and neutrophil infiltration in the dermis on skin biopsy. Although colchicine improved the symptoms slightly, the patient subsequently developed arthritis and was diagnosed with RA based on elevated anti-cyclic citrullinated peptide antibody and rheumatoid factor levels. Methotrexate (MTX), a first-line therapy for RA, was initiated, resulting in a remarkable improvement in both RA and SchS symptoms. This case highlights the rare coexistence of SchS and RA as well as the efficacy of MTX in treating both conditions. Although interleukin (IL)-1 inhibitors are considered the most effective treatment for SchS, they are not approved for SchS in Japan and are expensive. The efficacy of IL-6 inhibitors in SchS has also been reported, and MTX suppresses inflammatory cytokines, including IL-1 and IL-6. As shown in our case, drugs that modulate IL-6 levels, such as MTX, may be a viable treatment option for SchS.

Microscopic polyangiitis (MPA), a form of ANCA-associated vasculitis (AAV), can present a diagnostic challenge when it manifests with atypical symptoms. We report a case of MPA where the predominant clinical feature was myalgia with normal creatine kinase levels, underscoring the importance of a comprehensive diagnostic approach. A 60-year-old male presented with bilateral lower leg myalgia and gait disturbance. Physical examination revealed muscle tenderness and weakness. Magnetic resonance imaging (MRI) with fat-suppressed T2-weighted imaging showed heterogeneous high signal intensity in the lower limb muscles, suggestive of myositis. However, laboratory investigations found normal serum creatine kinase levels, and all tested myositis-specific autoantibodies were negative. A muscle biopsy yielded inconclusive results. In contrast, serology was positive for myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA). Despite preserved kidney function and unremarkable urinalysis, a kidney biopsy was performed, which revealed fibrinoid necrosis in small arteries. This led to a definitive diagnosis of MPA. This case highlights that MPA should be considered a key differential diagnosis in patients presenting with myalgia, particularly in the presence of a positive MPO-ANCA serology. While muscle manifestations occur in ~20% of AAV cases, they are not included in the current classification criteria. Our findings underscore that kidney biopsy remains a critical diagnostic tool for establishing a definitive diagnosis of MPA, even when renal symptoms are minimal, facilitating timely and appropriate immunosuppressive therapy.

A 55-year-old woman presented to our hospital with arthritis of the hands. Tests for anti-cyclic citrullinated peptide antibodies and rheumatic factor were negative, and seronegative rheumatoid arthritis was diagnosed. The patient was treated with methotrexate and certolizumab (tumour-necrosis factor-α inhibitor). Disease activity was controlled with the drugs, but after 14 months, erythematous plaques with scaling appeared on the palms and feet. Skin biopsy revealed bullous lesions with aseptic abscess formation, leading to the diagnosis of palmoplantar pustulosis and pustulotic arthro-osteitis. The patient had a family history of palmoplantar pustulosis. The skin lesions improved after discontinuation of certolizumab and treatment with ointments and phototherapy. This case suggests that tumour-necrosis factor-α inhibitors may potentially trigger palmoplantar pustulosis in patients with a family history (genetic factor) of the condition.

This report describes two cases of implant-stable traumatic periprosthetic fractures after total ankle arthroplasty in patients with rheumatoid arthritis. One case with a low body mass index (14 kg/m2) achieved complete bone union with the use of an external fixator, while the other case with a high body mass index (32.83 kg/m2) failed to achieve bone union with the external fixator; however, complete union was achieved utilising secondary internal plate fixation. Although open reduction and internal fixation using a plate is the standard procedure in implant-stable periprosthetic fracture cases, fixation using an external fixator might be suitable for patients with rheumatoid arthritis with low body weight and low body mass index, from the perspective of preventing surgical site complications.

The involvement of the central nervous system with granulomatosis with polyangiitis (GPA) is uncommon, and the formation of intracranial mass lesions is particularly rare. We describe the case of a Japanese woman in her thirties with GPA initially limited to the upper respiratory tract. Twelve years after the disease was onset, brain magnetic resonance imaging revealed a lobulated mass in the frontal lobe, and computed tomography findings suggested direct extension of granulomatous inflammation from the paranasal sinuses through the cribriform plate. Due to the risk of infection associated with cribriform plate destruction, surgical resection was performed for both diagnostic and preventive purposes. Histopathological examination of the resected intracranial lesion revealed necrotising granulomas without evidence of infection, consistent with GPA. Postoperatively, a moderate dose of prednisolone and rituximab was administered, resulting in clinical and serological remission. This case highlights a rare intracranial manifestation of GPA caused by direct contiguous spread from the paranasal sinuses, which can occur in the absence of systemic symptoms. Although sinonasal involvement is typically regarded as non-severe, the presence of bony destruction may signal a potentially organ-threatening course.

Patellar tendon rupture is a severe complication following total knee arthroplasty (TKA). We encountered a case of rheumatoid arthritis with an incomplete rupture of the patellar tendon post-TKA. An 84-year-old woman was diagnosed with an incomplete rupture of the right patellar tendon 3 months post-TKA of her right knee. The patient exhibited a 45° extension lag 6 months post-TKA, necessitating reconstruction surgery. Intraoperative findings revealed incomplete rupture of the patellar tendon that was stretched out, diagnosed as incomplete patellar tendon rupture. Due to knee valgus instability (passive knee valgus showed 20°), the thickness of the tibial insert was adjusted from 11 to 15 mm, resulting in improved valgus instability. The scarring region of the patellar tendon was resected to 10 mm in length, and the tendon was repaired using an ultra-high molecular weight polyethylene cable (Nesplon cable) and Krackow suture. The repair was secured by making an 8-figure pattern with the cable. After the reconstruction surgery, the knee was immobilised at 0° extension for 3 weeks, followed by the initiation of range-of-motion exercises. Three months later, the extension lag was reduced to -15°, and the patient could walk without orthosis and reported neither instability nor surgical site infection at 8 months after the surgery. In conclusion, this case is notable due to the rarity of incomplete (stretched out) patellar tendon rupture post-TKA and demonstrates the effectiveness of Nesplon cable with Krackow suture in reconstruction surgery.

Most reported cases of large vessel vasculitis (LVV) following coronavirus disease 2019 (COVID-19) have involved adults, with paediatric cases being rare. We present the case of a 14-year-old boy who developed LVV following COVID-19. Initially, he presented with fever and cough, and nasopharyngeal polymerase chain reaction testing confirmed COVID-19. His symptoms spontaneously resolved without specific COVID-19 treatments. However, 10 days after contracting COVID-19, his fever recurred and his inflammatory markers were significantly elevated. His condition did not meet the criteria for Kawasaki disease or multisystem inflammatory syndrome in children associated with COVID-19. Contrast-enhanced computed tomography revealed arterial wall thickening in the aorta and carotid arteries, indicative of LVV. Upon initiation of high-dose immunoglobulin therapy and aspirin, his fever subsided and his inflammatory markers and imaging findings normalised. Differential diagnosis ruled out infections, immune disorders, and Takayasu arteritis (TAK), a common cause of aortitis in children. Over a 1-year follow-up period, there were no recurrence and no stenotic lesions in large vessels. This finding suggests that the patient experienced transient LVV following COVID-19. Cytokine profile analysis performed before and after treatment revealed elevated levels of interleukin (IL)-6, IL-8, and IL-12/IL-23p40, typically associated with the active phase of TAK. Importantly, IL-17A and tumour necrosis factor-α levels were normal, as elevations in these cytokines have been linked to TAK recurrence. Notably, some cases of LVV following COVID-19 do not respond well to treatment; further research, including case accumulation and cytokine profile analysis, is needed to better predict prognosis.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic vasculitis preceded by bronchial asthma or allergic sinusitis and accompanied by peripheral blood eosinophilia. Immunosuppressive drugs, such as cyclophosphamide in addition to high-dose glucocorticoids (GCs), are recommended for induction of remission in patients with severe EGPA. Although mepolizumab is widely recognised as remission induction therapy in nonfatal/nonorgan disabling or relapsed/refractory EGPA, its efficacy and safety in induction of remission for severe cases have been ambiguous. In this context, we report a case of myeloperoxidase antineutrophil cytoplasmic antibody-positive severe EGPA in which the patient had a favourable course using mepolizumab as an induction remission therapy. The patient, a 74-year-old man, had myeloperoxidase antineutrophil cytoplasmic antibody-positive severe EGPA with alveolar haemorrhage. High-dose GCs and intravenous cyclophosphamide were started as remission induction therapy. However, after the initiation of intravenous cyclophosphamide, alveolar haemorrhage worsened, and there was development of opportunistic infections, such as aspergillus and cytomegalovirus antigenaemia. Treatment with the antifungal drug voriconazole and the antiviral drug ganciclovir was started for opportunistic infection, and the treatment for EGPA was switched from intravenous cyclophosphamide to mepolizumab. As a result, alveolar haemorrhage improved, GCs were reduced, and the infection also improved. Mepolizumab as remission induction therapy for severe EGPA were thought to be appropriate and effective treatment in this case. However, the efficacy and safety of mepolizumab for this purpose require comprehensive evaluation.

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is a recently identified autoinflammatory disorder caused by somatic mutations in the UBA1 gene. This report describes the case of a 54-year-old Japanese man with VEXAS syndrome exhibiting atypical features of eosinophilia and histiocytoid changes that mimic histiocytosis. Initially, the patient presented with recurrent fever, eosinophilia, lymphadenopathy, polyarthritis, and a skin rash. Histopathological examination of the skin and lymph node biopsies revealed the infiltration of CD68-positive histiocytes, raising suspicion of histiocytic disorders. However, immunohistochemistry ruled out Rosai-Dorfman disease and other histiocytoses. Subsequently, the patient developed scleritis and auricular chondritis. Bone marrow analysis revealed dysplastic changes with vacuolated cells. Genetic testing confirmed a somatic UBA1 mutation (p.Met41Leu), thereby establishing a diagnosis of VEXAS syndrome. The patient responded favourably to the oral prednisolone therapy. This case underscores that VEXAS syndrome can manifest with eosinophilia and histiocytoid infiltrates, which are atypical features that may lead to confusion in diagnosis. Eosinophilia has been infrequently reported in patients with VEXAS syndrome and may pose a diagnostic challenge. Histiocytoid changes in skin lesions and lymph nodes may serve as early indicators of VEXAS. Clinicians should be aware of these potential atypical manifestations to prevent delays in the diagnosis and treatment of VEXAS syndrome. Further research is warranted to delineate the full spectrum of clinical and pathological presentations of VEXAS.