Modern rheumatology case reports最新文献

A 43-year-old man reported with upper respiratory tract symptoms and tested positive for Coronavirus disease 2019 antigens. The symptoms improved quickly, but 1 month later, myalgia in both shoulders and from both thighs to both lower legs, pharyngeal pain, and dyspnoea appeared. His muscle strength was low, and laboratory tests showed an elevated serum creatine kinase level at 1273 U/L. A Coronavirus disease 2019 polymerase chain reaction test was positive on the day of admission, and a diagnosis of multisystem inflammatory syndrome in adults was considered. The patient received high-dose intravenous immunoglobulin (30 g for 5 days), as myositis due to MIS-A with muscle weakness refractory to glucocorticoids, but progressive dysphagia led to gradual reductions in ability to swallow saliva. The patient choked due to sputum, resulting in cardiopulmonary arrest on day 31. Lifesaving measures were immediately performed and the patient's heartbeat resumed. However, on day 39, the patient experienced a gastrointestinal perforation and underwent emergency surgery. Since anti-nuclear matrix protein 2 antibody-positive dermatomyositis is known as a severe form of dermatomyositis that can cause gastrointestinal perforation, we measured the antibody and found to be positive. We reported the case of gastrointestinal perforation in a patient with anti-nuclear matrix protein 2 antibody-positive dermatomyositis that developed after Coronavirus disease 2019 infection and was successfully managed through multidisciplinary therapy.

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 a 76-year-old woman with chorea associated with antiphospholipid antibodies (aPLs) 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 aPLs decreased after treatment, with normalization of activated partial thromboplastin time (from 70 to 25 sec), anti-β2-glycoprotein I IgM (from 22 to 12 U/mL), and phosphatidylserine-dependent anti-prothrombin 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 this combination therapy may have a role in maintaining remission and modulating antiphospholipid autoimmunity of SLE-associated chorea.

Biologic agents have demonstrated efficacy in the treatment of refractory Takayasu arteritis (TAK). Although vascular stenosis is a common manifestation in the chronic phase of TAK, evidence on the effects of biologic therapy on established vascular lesions remains limited. Here, we report 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 normalization of inflammatory markers. Re-induction with methylprednisolone pulse and methotrexate (MTX) led to slight improvement. Subsequent therapy with tocilizumab (TCZ), followed by golimumab (GLM), 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 MTX were initially administered, progression of left subclavian artery stenosis was detected on ultrasonography before symptom onset, despite normalized inflammatory markers. Introduction of TCZ with increased PSL led to notable improvement in the vascular lesions. These cases and literature review suggest that biologic agents may reverse vascular remodeling 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.

Psoriatic arthritis is a chronic inflammatory disease associated with psoriasis, and its diagnosis can be challenging owing to nonspecific symptoms, absence of reliable biomarkers, and occasional delay in skin manifestations. Herein, we report a case of psoriatic arthritis that initially presented as an acute finger inflammation mimicking infection. A 46-year-old woman developed sudden swelling and pain in the left ring finger during chemotherapy for cervical cancer. Based on the results of the physical examination, laboratory tests, and magnetic resonance imaging, pyogenic flexor tenosynovitis was suspected, and synovectomy was performed; however, bacterial and mycobacterial cultures yielded negative results. Despite the administration of antibiotics, the inflammation persisted, and she was referred to the Rheumatology Department, where she was diagnosed with reactive arthritis secondary to Chlamydia infection. Although the inflammation improved after antimicrobial therapy, the finger swelling persisted. Follow-up magnetic resonance imaging and serological testing were performed, and the patient was diagnosed of seronegative rheumatoid arthritis. Four years after onset, erythematous skin lesions appeared, and dermatological evaluation confirmed plaque psoriasis; thus, a definitive diagnosis of psoriatic arthritis was established. Disease-modifying antirheumatic drug adjustments improved symptoms, but residual 'pencil-in-cup' deformity and limited finger motion remained. This case highlights the difficulty in diagnosing psoriatic arthritis when arthritis precedes skin lesions. Clinicians should consider psoriatic arthritis in persistent or refractory arthritis and carefully monitor skin and nail changes to achieve an earlier diagnosis and prevent irreversible joint damage.

Hematological manifestations of immunoglobulin (Ig)G4-related disease (IgG4-RD) are atypical, and few studies have addressed cytopenia in this condition. We present here a case of IgG4-RD with marked pancytopenia and splenomegaly in the absence of bone marrow abnormalities. A 67-year-old woman developed diplopia, dyspnea, pancytopenia, and hypocomplementemia. Contrast-enhanced computed tomography showed bilateral lacrimal and submandibular gland swellings, enlargement of cervical, mediastinal, inguinal, and para-aortic lymph nodes, splenomegaly, and granular shadows in both lungs. She had been referred to our hospital on suspicion of malignant lymphoma, but lymph node biopsy indicated the possibility of IgG4-RD. Lacrimal gland biopsy showed infiltration of numerous lymphocytes and IgG4-positive plasma cells along with mild fibrosis. Bone marrow biopsy showed normocellular marrow with no increase in plasma cells. The IgG4-positive plasma cell count was 4 per high-power field, with an IgG4/IgG ratio of 10%. After excluding potential mimics, the diagnosis was IgG4-RD presenting with pancytopenia and splenomegaly. Prednisolone was initiated at 40 mg/day, leading to rapid normalization of pancytopenia, recovery of complement levels, and resolution of other organ involvements such as splenomegaly. Physicians should keep in mind that IgG4-RD can present as pancytopenia and splenomegaly.

Central nervous system involvement in vasculitis disorders, either primary or secondary, is a heterogeneous and challenging area in rheumatology clinical in terms of both diagnostics and therapeutics. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, difficult-to-diagnose and ill-defined clinical entity caused by mutations at TREX1 gene without effective treatment options. We hereby present a fifty-year old male patient with non-alcoholic fatty liver disease, hypertension, bilateral type III macular telangiectasia, and stage II chronic kidney disease with mild proteinuria presenting to rheumatology clinic with various neurological symptoms accompanied by multiple contrast-enhancing cerebral lesions on magnetic resonance imaging. Even though RVCL-S is not an inflammatory vasculopathy, our patient has partially responded to high-dose corticosteroid and cyclophosphamide in terms of clinical status and radiological evaluation. This case report not only highlights the importance of consideration of RVCL-S in the differential diagnosis of central nervous system vasculitis-like disorders but also emphasizes the potential use of certain immunosuppressive medications in the therapeutics perspective.

Thrombotic microangiopathy (TMA) is a rare but life-threatening complication in idiopathic inflammatory myopathies. Although TMA has been increasingly recognized in anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive dermatomyositis, it remains exceptionally uncommon in anti-signal recognition particle (SRP) antibody-positive immune-mediated necrotizing myopathy (IMNM). We describe a 62-year-old woman with anti-SRP antibody-positive IMNM who developed rapidly progressive TMA shortly after initiation of immunosuppressive therapy, including tacrolimus. At presentation, she exhibited early proteinuria, severe myositis activity, and markedly elevated creatine kinase levels. Despite prompt high-dose corticosteroids, rapid withdrawal of tacrolimus, plasma exchange, intravenous immunoglobulin, and rituximab, her TMA progressed to dialysis-dependent acute kidney failure, although she ultimately survived and was successfully weaned from mechanical ventilation. To our knowledge, this represents only the second reported case of TMA associated with anti-SRP antibody-positive IMNM. Patients with highly active IMNM and early renal involvement may be particularly vulnerable to calcineurin inhibitor-associated TMA, and clinicians should exercise caution when introducing these agents in such settings. Early recognition of proteinuria, thrombocytopenia, and laboratory features of hemolysis may facilitate timely diagnosis and guide appropriate therapeutic intervention.

Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis of medium-sized arteries, often challenging to differentiate from other autoimmune and thrombotic disorders due to overlapping clinical features. This case-based literature review describes a 56-year-old male with a prior diagnosis of catastrophic antiphospholipid syndrome (CAPS) who presented with digital ischemia, myalgias, and a progressive cutaneous rash. Despite initial treatment with anticoagulation, symptoms persisted, and a skin biopsy ultimately revealed medium-vessel vasculitis consistent with PAN. Muscle biopsy was inconclusive, underscoring the difficulty of diagnosis in the setting of coexisting vasculopathies. This case illustrates the diagnostic complexity at the intersection of inflammatory and thrombotic syndromes and highlights the potential for concurrent or misclassified disease. A review of literature reveals rare but documented associations between PAN and antiphospholipid syndrome (APS), yet no diagnostic tool for differentiation exists. Early recognition and accurate differentiation are critical to optimize outcomes in such overlapping syndromes. Future studies should evaluate a possible differentiation score or explore further diagnostics to help differentiate these inflammatory and thrombotic syndromes to better recognize and treat these conditions.

A 60-year-old Japanese man developed a protruding right eye. He underwent a magnetic resonance imaging (MRI) 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 (MALT lymphoma). He received a total of 36 Gy of radiation therapy, and the mass disappeared. Five years later, he developed a protruding left eye. The MRI scan at that time revealed a left orbital mass. Biopsy revealed findings of IgG4-related disease (IgG4-RD) in the left orbital mass, but no findings of MALT 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 (IgG4-ROD) in the left orbital mass. Because the treatment strategy for IgG4-ROD and malignant lymphoma is completely different, we emphasize the need for biopsy.

Behçet's disease (BD) is a multisystemic inflammatory disorder that can affect vessels of all sizes, often leading to significant vascular morbidity. We present the case of a 37-year-old man with BD who developed a rare and severe postoperative complication involving vascular graft invasion into the duodenum. The patient initially underwent emergency aortobiiliac bypass surgery for a ruptured abdominal aortic aneurysm. Subsequent evaluation revealed clinical features consistent with BD, and immunosuppressive treatment with corticosteroids and azathioprine was initiated; however, adherence was interrupted due to repeated abdominal surgeries. On follow-up, he presented with lower-extremity ischemia and gastrointestinal bleeding. Imaging revealed recurrent thrombotic event and, notably, a contrast-enhancing structure that raised suspicion of a vascular material. Endoscopic evaluation demonstrated vascular graft material protruding into the duodenal lumen with active bleeding. Urgent redo of aortobiiliac graft replacement and duodenal repair were performed. This complication was interpreted as a manifestation of an extended pathergy phenomenon, triggered by mechanical trauma from graft contact with the duodenum in the context of uncontrolled disease activity. Following postoperative stabilization, intensified immunosuppressive therapy with azathioprine and infliximab was administered, thereby preventing further vascular events and other severe manifestations. This case underscores the critical importance of adequate immunosuppressive control before vascular surgery in BD to reduce severe postoperative complications.