高安動脈炎

Takayasu's arteritis (TA) is a chronic granulomatous vasculitis that primarily affects young women and involves the aorta and its major branches. Although neurological manifestations, such as stroke (15.8% prevalence in TA), are uncommon, they can be debilitating. We present the case of a 30-year-old woman from Haryana, India, who presented to the hospital with acute right-sided hemiparesis and dysphasia. Despite normal inflammatory markers, neuroimaging revealed chronic infarcts accompanied by significant stenosis of the intracranial arteries and extensive collateral formation. A computed tomographic angiography (CTA) showed diffuse circumferential thickening and severe stenosis of the right internal carotid artery and its branches, indicative of large-vessel vasculitis. Notably, the involvement of the intracranial internal carotid artery represented an uncommon manifestation of TA, as the disease predominantly affects the extracranial aorta and its major branches, with intracranial arterial involvement being relatively rare. Based on clinical findings, radiological evidence, and diagnostic criteria, a diagnosis of TA was established. Based on early vascular imaging, the patient was treated with corticosteroids, methotrexate, and antiplatelet therapy, which led to significant clinical improvement. This case underscores the importance of considering vasculitic causes like TA in young stroke patients, especially when conventional risk factors are absent.

Pulmonary hypertension (PH) is a severe complication of Takayasu arteritis (TAK) with pulmonary artery involvement (PAI), associated with poor prognosis. Serum uric acid (UA) has been linked to both TAK severity and PH in other settings, but its role specifically in TAK-PAI-associated PH remains unclear. This study aimed to investigate the relationship between serum UA and the presence and severity of PH in TAK patients with confirmed PAI. This cross-sectional study enrolled 90 consecutive TAK patients with PAI documented by CT pulmonary angiography. All patients underwent echocardiography; those with echocardiographic signs of PH underwent confirmatory right heart catheterization (RHC). PH was defined as mean pulmonary artery pressure > 20 mmHg with pulmonary artery wedge pressure ≤ 15 mmHg (2022 ESC/ERS criteria). Serum UA was measured at baseline. Multivariable logistic regression, subgroup analyses, and restricted cubic spline (RCS) were performed. Among 90 patients, 42 (46.7%) met the PH criteria. Patients with PH had significantly higher serum UA levels than those without PH (400.5 ± 140.8 vs. 305.2 ± 91.6 μmol/L, p < 0.001). After adjusting for age, sex, eGFR, and Kerr score (disease activity), each 10 μmol/L increase in UA was associated with a 10% higher odds of PH risk (OR = 1.10, 95% CI 1.04-1.16, p = 0.001). Compared with the lowest tertile (< 284 μmol/L), the highest tertile (≥ 377 μmol/L) had an 8-fold increased odds of PH risk (OR = 8.03, 95% CI 2.03-31.79, p = 0.003). Subgroup analyses showed consistent associations across sex, disease activity, and PAI pattern. RCS analysis revealed no significant nonlinearity (p = 0.729), indicating a predominantly linear dose-response relationship. Elevated serum uric acid is independently associated with higher odds of PH in TAK patients with PAI, exhibiting a linear dose-response pattern. A uric acid level ≥ 377 μmol/L may identify patients at substantially increased odds of PH. Serum UA could serve as a simple, noninvasive biomarker for PH risk stratification in this high-risk population. Trial Registration: ClinicalTrials.gov: NCT07184814.

Takayasu arteritis (TAK) is a rare large-vessel vasculitis primarily affecting young women, characterized by idiopathic inflammation of the aorta and its major branches. While aortic regurgitation (AR) is a recognized complication, it typically occurs in advanced disease stages. Isolated severe AR as the initial manifestation is exceptionally uncommon and poses diagnostic challenges. We present a 39-year-old woman with no prior medical history who presented with progressive exertional dyspnea (NYHA Class II) and exertional chest pain. Physical examination revealed absent upper limb pulses, unmeasurable brachial blood pressure, and a diastolic murmur. Transthoracic echocardiography demonstrated severe AR with left ventricular dysfunction (EF 48%). CT and MR angiography confirmed circumferential aortic wall thickening, subclavian artery occlusions, and ostial right coronary artery stenosis. Elevated inflammatory markers (ESR and CRP) and vascular imaging findings established the diagnosis of TAK based on the 1996 Modified Ishikawa Criteria. Initial treatment included high-dose glucocorticoids and methotrexate for disease control. Due to persistent severe AR, the patient underwent successful mechanical aortic valve replacement. Postoperative recovery was uncomplicated, with significant clinical improvement at 1-year follow-up and no disease recurrence. This case illustrates that severe AR can rarely serve as the initial manifestation of TAK, emphasizing the importance of considering large-vessel vasculitis in young patients with unexplained valvulopathy and systemic inflammation. Early diagnosis, combined medical-surgical management, and careful long-term monitoring are essential for optimizing outcomes in this high-risk population.

Aortopathies in autoimmune rheumatic diseases (ARD) include a spectrum of aortic pathologies-including aortitis, aneurysms, dissections, and insufficiency-primarily caused by systemic inflammation. This comprehensive review investigates the clinical manifestations, pathophysiology, diagnostic modalities, and management strategies across various rheumatic diseases associated with aortopathies such as large vessel vasculitis (e.g., Takayasu arteritis, giant cell arteritis), connective tissue diseases (e.g., systemic lupus erythematosus, rheumatoid arthritis, ankylosing spondylitis, systemic sclerosis) and less common conditions (e.g., relapsing polychondritis, Cogan's syndrome, Behçet's disease, IgG4-related disease). Disease-specific pathophysiologic mechanisms of aortic wall inflammation and remodeling, including granulomatous and lymphoplasmacytic patterns and mixed inflammatory infiltrates, are described. Diagnostic imaging modalities-such as CTA, MRI, and PET/CT-are evaluated for their roles in detecting active inflammation, assessing structural complications, and guiding clinical decision-making. Histopathological findings provide insight into disease-specific vascular changes. Management strategies focus on the use of glucocorticoids, disease-modifying antirheumatic drugs (DMARDs), and biologics, including IL-6 and TNF-α inhibitors, with an emphasis on patient-centered approaches, multidisciplinary care, and timely surgical intervention for complications. Evidence gaps include optimal screening intervals and the role of novel biomarkers in risk stratification and in monitoring disease progression, highlighting the need for early recognition, frequent monitoring, and aggressive management of aortic involvement in rheumatic diseases to prevent life-threatening complications.

Takayasu arteritis should be suspected in young females with limb claudication, absent pulses, recurrent arterial stenosis, and elevated inflammatory markers. Early diagnosis is crucial to prevent complications. In G6PD-deficient females, treatment must be modified, as specific immunosuppressants, like cyclophosphamide, can induce hemolysis. Accurate diagnosis ensures effective management.