Background Anti–3‐hydroxy‐3‐methylglutaryl–coenzyme A reductase (anti‐HMGCR) antibody–positive immune‐mediated necrotizing myopathy (IMNM) is a rare autoimmune myopathy characterized by progressive proximal muscle weakness and markedly elevated creatine kinase levels. Although commonly associated with prior statin exposure, statin‐naïve cases and atypical presentations are well described. Patients with idiopathic inflammatory myopathies are also at increased risk for venous thromboembolism (VTE), though data specific to IMNM remain limited. Case Presentation An 83‐year‐old man with brief, remote statin exposure presented with progressive proximal muscle weakness and a three‐year history of oropharyngeal dysphagia preceding limb involvement. Laboratory evaluation revealed markedly elevated creatine kinase and transaminases. Anti‐HMGCR antibodies were positive, and muscle biopsy confirmed necrotizing myopathy. During evaluation for occult malignancy, bilateral pulmonary emboli were incidentally identified. The patient required high‐dose corticosteroids, mycophenolate mofetil, and intravenous immunoglobulin for refractory disease. With aggressive immunosuppressive therapy and rehabilitation, he demonstrated substantial clinical recovery at 6 months. Conclusion This case highlights oropharyngeal dysphagia as an early and, for a prolonged period, isolated manifestation of anti‐HMGCR antibody–positive IMNM; here, it preceded the onset of limb weakness by approximately 3 years. It underscores the importance of comprehensive diagnostic evaluation in patients with unexplained oropharyngeal dysfunction, in whom an inflammatory myopathy may otherwise be overlooked for years. Clinicians should maintain awareness of thrombotic risk in inflammatory myopathies, particularly during active disease. Early recognition and prompt immunosuppressive therapy remain critical to optimize outcomes and prevent irreversible muscle damage.
Background Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with potential neuropsychiatric involvement (NPSLE) and increased susceptibility to opportunistic infections like tuberculosis (TB), particularly in endemic regions such as Nepal where the estimated incidence is 229 per 100,000 population. Differentiating NPSLE from tuberculous meningitis (TBM) is diagnostically challenging due to overlapping clinical and cerebrospinal fluid (CSF) findings. Case Presentation A 25‐year‐old male with a 1‐year history of SLE presented with facial puffiness, oral ulcers, polyarthritis, lower limb edema, and a 6‐week history of renal symptoms. Laboratory investigations revealed microcytic anemia (Hb 7.4 g/dL), nephrotic‐range proteinuria (urine protein‐to‐creatinine ratio 4.8 g/g), strongly positive anti‐dsDNA, and low complement levels. ENA panel was positive for anti‐Ro/SSA but negative for antiribosomal P and antiphospholipid antibodies. Renal biopsy confirmed class IV lupus nephritis (Activity Index 11/24 and Chronicity Index 3/12). Following intravenous methylprednisolone pulse therapy (500 mg/day for 3 days), he developed generalized tonic‐clonic seizures and altered sensorium. EEG revealed epileptiform discharges. CSF analysis showed lymphocytic pleocytosis (500 cells/μL and 80% lymphocytes), elevated protein (578 mg/dL), low glucose (1.4 mmol/L), and elevated ADA (10.9 U/L), suggestive of TBM despite negative GeneXpert MTB/RIF, viral PCR, and cryptococcal antigen assays. MRI brain showed cerebral atrophy, calcified granulomas in the right temporal lobe, and a nonspecific demyelinating white matter lesion. Based on clinical, CSF, and imaging findings, empirical antitubercular therapy (ATT) was initiated alongside tailored immunosuppression. The patient’s neurological and renal status markedly improved with complete resolution of seizures. Discussion Distinguishing NPSLE from CNS infections requires careful evaluation of serial CSF parameters, biomarkers, and MRI findings. In endemic regions, empirical ATT should be initiated early when clinical and laboratory features suggest TBM, even when molecular or culture tests are negative. Conclusion In SLE patients with neuropsychiatric symptoms in TB‐endemic areas, clinicians must consider TBM even when definitive microbiological tests are negative. Early empirical treatment can significantly improve patient survival and long‐term outcomes.
Acromioclavicular (AC) joint gout is uncommon and can be difficult to distinguish from infection or degenerative disease without synovial crystal confirmation. We describe two older men with longstanding, intermittently treated gout who presented with symptomatic AC-joint abnormalities. A 74-year-old man had four months of bilateral AC-joint swelling, peripheral tophi, hyperuricemia, erosive radiographic changes, and supportive ultrasonographic findings, including a double-contour sign at the knee. A 94-year-old man had three months of right AC-joint pain and swelling, hyperuricemia, radiographic irregularity, and ultrasonographic synovial changes with power Doppler activity. Neither patient had an accessible AC-joint effusion for aspiration; therefore, crystal identification and bacterial culture were unavailable. The findings were compatible with probable AC-joint gout, but infection could not be definitively excluded, especially in the second patient, whose C-reactive protein was 74 mg/L. Colchicine and long-term urate-lowering therapy were prescribed; treatment details and standardized longitudinal outcomes were incompletely documented. These cases emphasize cautious diagnostic interpretation of unusual-site gout without tissue confirmation.
Background Antimelanoma differentiation‐associated gene 5 (MDA5) antibody‐positive dermatomyositis (MDA5(+) DM) is frequently complicated by interstitial lung disease (ILD) and is associated with a high risk of relapse. Optimal management after relapse remains unclear. Case Presentation A 63‐year‐old woman presented with characteristic cutaneous manifestations of dermatomyositis and ILD without muscle involvement. She was diagnosed with MDA5(+) DM complicated by ILD and initially treated with high‐dose glucocorticoids, tacrolimus, and intravenous cyclophosphamide, resulting in clinical improvement. However, after discontinuation of calcineurin inhibitor therapy due to adverse events, disease relapse occurred, characterized by worsening cutaneous lesions, progression of pulmonary infiltrates, and an increase in anti‐MDA5 antibody titers. Subsequently, azathioprine was initiated, and rituximab was administered thereafter. Both clinical and radiological findings improved, and anti‐MDA5 antibody titers progressively decreased. Repeated rituximab infusions were followed by stable clinical findings, allowing glucocorticoid tapering without further relapse. Conclusion This case suggests that rituximab combined with azathioprine may be a therapeutic option for disease control after relapse with MDA5(+) DM‐ILD.
Immune-mediated necrotizing myopathy (IMNM) associated with 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies is a rare condition often associated with statin use. It typically presents with proximal weakness and markedly elevated creatine phosphokinase (CPK) levels and is often refractory, requiring long-term immunotherapy. Respiratory involvement is uncommon but can be life-threatening. Herein, we report the case of a 73-year-old woman with long-standing anti-HMGCR antibody–positive IMNM, refractory to glucocorticoids, methotrexate, azathioprine, intravenous immunoglobulin (IVIg), rituximab, and plasma exchange (PLEX), who presented with progressive hypercapnic respiratory failure. Despite ongoing treatment with IVIg, PLEX, and high-dose glucocorticoids, the patient’s respiratory function worsened, and she required mechanical ventilation (MV). The addition of tofacitinib, a Janus kinase (JAK) inhibitor, coincided with marked clinical improvement, discontinuation of MV, and successful transition to room air. The patient continued to do well on this therapy, with improvement in muscle strength until outpatient discharge. The clinical benefit of JAK inhibition has been reported in dermatomyositis, overlap myositis, and anti–MDA5-positive disease, particularly in refractory cases with pulmonary or systemic involvement—but has not been described in the setting of refractory IMNM. In our patient, who had exhausted multiple conventional therapies and PLEX, the rapid clinical improvement after JAK inhibition strongly suggests a therapeutic effect and highlights the need for future studies of JAK inhibitors in IMNM.
