Modern rheumatology case reports最新文献

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.

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.

Pyoderma gangrenosum (PG) is a rare chronic skin disease characterized by painful skin ulcers. There are no treatment guidelines for PG; however, systemic treatment is often administered. Recently, adalimumab (ADA), a fully human monoclonal antibody against tumour necrosis factor, was approved for the treatment of refractory PG in Japan. However, data are limited, and it is not clear whether ADA has the same effect on the treatment of PG in patients with systemic rheumatic disease (SRD), including rheumatoid arthritis (RA). In addition, the glucocorticoid-sparing effect of ADA in SRD patients with PG has not yet been clarified. Herein, we present two successful cases of RA with glucocorticoid-refractory PG on ADA treatment. Our report suggests that ADA may have a glucocorticoid-sparing effect on refractory PG in patients with RA.

IgG4-related disease (IgG4-RD) is an under-recognised multisystem inflammatory disorder that has several typical manifestations. Cardiac manifestations of IgG4-RD are well documented; however, they do not feature in the definition or diagnosis of IgG4-RD according to a recent consensus statement. The most well-recognised cardiac manifestation of IgG4-RD, pericardial disease, is outlined in this case report as the initial presenting pathology. In the present case, the diagnosis was delayed due to the relative obscurity of cardiac manifestations of IgG4-RD and exposed the patient to the risks of pericardiectomy.

Granulomatosis with polyangiitis (GPA) is a rare autoimmune vasculitis primarily affecting the respiratory tract and kidneys. This case report describes a severe and atypical presentation of GPA in a 42-year-old male, who initially presented with sudden onset of cough, myalgia, dysaesthesia, and lower limb oedema. Initial tests indicated elevated inflammatory markers and white blood cell count. Subsequent imaging revealed a suspicious pulmonary nodule, but the patient experienced a syncopal episode and myocardial infarction before scheduled surgery. Despite normal myocardial biopsy results and negative bacterial/viral tests, the patient developed ischaemic symptoms in the lower extremities, leading to severe limb ischaemia and amputation of the left distal third thigh. Few days later he developed renal involvement with proteinuria, haematuria, active urinary sediment, and rapidly progressive renal dysfunction. The clinical scenario and the detection of high-titre antineutrophil cytoplasmatic antibodies (ANCA) were highly suggestive for GPA; despite the lack of histological confirmation due to mandatory anticoagulant treatment for the recent myocardial event, treatment with methylprednisolone and rituximab was started and led to rapid clinical improvement. Subsequently histological analysis of the amputated leg confirmed necrotising vasculitis. This case highlights the importance of considering GPA in differential diagnoses involving multiorgan symptoms and underscores the complexities in diagnosing and managing this rare condition, especially when typical diagnostic biopsies are not feasible.

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.