INTRODUCTION

Takayasu arteritis (TA) is a rare chronic large vessel vasculitis that affects the aorta and its major branches with a median age of onset of 25 years. The disease has a worldwide incidence of 1-2 per million, primarily affecting females with a 9:1 ratio. It is considered as an autoimmune disease that leads to progressive vessel thickening and stenosis, or aneurysmal dilatation. Coronary artery involvement is observed in 5.9%-58.2% of TA cases. We present a case of TA in a Filipino male presenting concurrently with myocardial infarction (MI) and ischemic stroke.

A 41-year-old Filipino male smoker with hypertension presented with chest pain, left-sided paresthesia and hemiparesis. Initial assessment revealed differential blood pressure between the arms, sensory and motor deficits, and abnormal ABI. Electrocardiogram confirmed anteroseptal ST-elevation MI and cranial computed tomography (CT) showed ischemic stroke. Arterial duplex scan had findings suggestive of hemodynamically significant lower extremity stenosis. A CT aortogram revealed multiple occlusions, including in the left subclavian artery, suggesting TA. Coronary angiography was attempted but was deferred due to peripheral arterial occlusion. A CT coronary angiogram revealed severe stenosis of the left anterior descending artery and moderate stenosis of the other coronaries. The patient was treated with dual antiplatelet therapy, statins, anticoagulation, corticosteroids and methotrexate. He experienced significant improvement in neurological symptoms and was chest pain-free upon discharge. At the 1-month follow-up, the patient remained asymptomatic.

Coronary involvement in TA can manifest as angina, MI, or other coronary lesions. The coexistence of MI and ischemic stroke in the same event is rare. Traditional risk factors for ischemic heart disease (IHD) in this patient such as hypertension and smoking may have contributed to the presentation, though TA itself is known to accelerate atherosclerosis. Limited vascular access hindered coronary intervention in this case and revascularization strategies remain challenging in active TA. The formation of extensive collateral arteries, along with early initiation of immunosuppressive therapy, likely contributed to the patient’s survival.

This case illustrates a rare and complex case of TA in a male patient with concurrent MI and ischemic stroke. Although coronary revascularization was not pursued due to occluded access, immunosuppressive therapy successfully managed the patient’s condition. Extensive collateral artery formation and early therapeutic intervention were key factors in the patient’s favorable outcome.

BACKGROUND

Takayasu arteritis (TAK) is a rare, chronic large-vessel vasculitis affecting the aorta and its major branches, leading to stenosis, occlusion, or aneurysmal changes. The global incidence is approximately 1.11 cases per million person-years, with a strong female predominance (80%–90%), typically manifesting between 40 and 50 years of age. Although TAK occurs worldwide, its prevalence is highest in Asia with 61 reported cases in the Philippines. Clinical manifestations are heterogeneous, ranging from nonspecific systemic symptoms to severe vascular complications, often delaying diagnosis, particularly in atypical cases.

We report a 43-year-old woman with hypertension, diabetes and chronic ischemic stroke without residuals who presented with a two-month history of easy fatigability, generalized weakness, arthralgia, intermittent claudication with progressive dark discoloration of both lower extremities, undocumented low-grade fever and alopecia. She developed acute respiratory distress with abrupt loss of consciousness requiring emergent intubation. Examination revealed a marked discrepancy in blood pressure between the upper extremities, diminished peripheral pulses and an audible abdominal bruit. Laboratory studies showed elevated Troponin I, ESR and CRP, with borderline ANA and normal complement levels. Neuroimaging demonstrated multiple acute and chronic cortical and cerebellar infarcts. Initially managed as a cerebrovascular accident, she required tracheostomy for ventilatory dependence. Antiplatelet and anticoagulant therapy was started after evidence of myocardial infarction. Progressive ischemia of the left lower extremity necessitated below-knee amputation. CT aortography later revealed diffuse thoracoabdominal aortic and iliac involvement with mural thickening, multiple aneurysms, dissection and unilateral renal artery stenosis. Further immunologic workup showed her to be negative for lupus anticoagulant. Immunosuppressive therapy with corticosteroids and methotrexate was initiated to control vascular inflammation and limit further progression.

This case highlights the diagnostic complexity of TAK with atypical, multi-organ ischemic presentations, emphasizing the importance of clinical vigilance, comprehensive vascular imaging and timely immunosuppressive therapy to mitigate complications and improve outcomes.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare multi-system disease that presents significant diagnostic challenges due to its complexity and low incidence (White and Dubey, 2023). It affects males and females equally, though males may exhibit more active disease at diagnosis and often require more aggressive treatment (Liu et al., 2023). The hallmark features of EGPA include delayed-onset asthma, eosinophilia in tissues and blood, and vasculitis affecting small to medium-sized arteries (White and Dubey, 2023). EGPA falls under the category of antineutrophil cytoplasmic antibody (ANCA)‍-associated vasculitis (AAV), whereas only about half of EGPA patients test positive for ANCA (Khoury et al., 2023).
Humans ; Male ; Hemorrhage/etiology* ; Granulomatosis with Polyangiitis/complications* ; Heart Arrest/etiology* ; Early Diagnosis ; Eosinophilia/diagnosis* ; Kidney Diseases/etiology* ; Churg-Strauss Syndrome/complications* ; Middle Aged

INTRODUCTION: Takayasu arteritis is the most common large-vessel vasculitis in childhood, but there is a lack of literature regarding childhood-onset Takayasu arteritis (c-TAK) in Southeast Asia. We aim to describe a c-TAK cohort in Singapore and highlight a unique subset that first presents with Kawasaki-like disease (KD). METHOD: A single-centre cohort study in Singapore of consecutive children diagnosed with c-TAK between 2002 and 2023 was performed. Demographic and clinical features, laboratory and angiographic findings, treatment, and outcomes were summarised. Disease activity was evaluated using the Paediatric Vasculitis Disease Activity Score and inflammatory markers. RESULTS: Twenty-three patients, fulfilling both the EULAR/ PRINTO/PReS and ACR/EULAR 2022 criteria, were recruited. The most common clinical features at diagnosis were fever (15, 65%) and neurological symptoms (11, 48%, half of which presented with stroke), while the most prevalent angiographic pattern by Hata's classification was Type V (21, 91%). Eight children (35%) initially presented with refractory KD, and these patients were significantly younger, more male-predominant, and had higher inflammatory markers at diagnosis; all of them had coronary artery involvement, but none had intracranial vascular findings. Of the entire cohort, 16 (70%) achieved inactive disease on medications with a median duration of 6 months (interquartile range [IQR]: 4-11), and 8 (35%) achieved remission off medications with a median duration of 43 months (IQR 35-60). CONCLUSION Our c-TAK cohort has high proportions of neurological involvement and stroke. This is also the first cohort study to describe a distinct group of patients who first presented with refractory KD.
Humans ; Takayasu Arteritis/complications* ; Singapore/epidemiology* ; Male ; Female ; Child ; Adolescent ; Age of Onset ; Mucocutaneous Lymph Node Syndrome/diagnosis* ; Cohort Studies ; Child, Preschool ; Fever/etiology* ; Stroke/epidemiology* ; Retrospective Studies

This comprehensive review synthesizes the latest advancements in understanding inflammatory disorders affecting cerebral small vessels, a distinct yet understudied category within cerebral small vessel diseases (SVD). Unlike classical SVD, these inflammatory conditions exhibit unique clinical presentations, imaging patterns, and pathophysiological mechanisms, posing significant diagnostic and therapeutic challenges. Highlighting their heterogeneity, this review spans primary angiitis of the central nervous system, cerebral amyloid angiopathy-related inflammation, systemic vasculitis, secondary vasculitis, and vasculitis in autoinflammatory diseases. Key discussions focus on emerging insights into immune-mediated processes, neuroimaging characteristics, and histopathological distinctions. Furthermore, this review underscores the importance of standardized diagnostic frameworks, individualized immunomodulation approaches, and novel targeted therapies to address unmet clinical demands.
Humans ; Cerebral Small Vessel Diseases/pathology* ; Inflammation/pathology* ; Cerebral Amyloid Angiopathy/pathology* ; Vasculitis, Central Nervous System/pathology* ; Vasculitis/pathology*

Leukocytoclastic vasculitis (LCV) is a histopathologic descriptor for a prevalent type of small-vessel vasculitis (SVV) that affects arterioles, capillaries, and postcapillary venules. Although the association between vasculitis and malignancy only accounts for <5% of vasculitis cases, it has been recognized as a true paraneoplastic syndrome in several studies. A 57-year-old Filipino male presented with erythematous, nonblanching macules on his lower extremities, which rapidly progressed to violaceous lesions on his trunk, buttocks, and lower extremities. He also reported significant weight loss, decreased appetite, and vomiting. A skin biopsy confirmed LCV. Initially treated for meningococcemia, his condition did not improve. Abdominal imaging revealed an enlarged heterogeneous liver with retroperitoneal lymphadenopathy and a parenchymal nodule. He was eventually diagnosed with vasculitis secondary to an underlying hepatic malignancy and expired later from multiorgan failure.

INTRODUCTION

Eosinophilic Granulomatosis Polyangiitis (EGPA) is the rarest among the ANCA-associated vasculitis with an incidence of seven per million individuals. Cardiac involvement occurs in 15-60% of patients and is the most severe manifestation associated with poor prognosis and mortality. EGPA typically affects the left side of the heart. There is only one published study to date that describes a case of right sided heart failure from pulmonary arterial hypertension.

A 40-year-old, Filipino, female, complained of rash, wheezing and right sided heart failure symptoms. After a thorough work-up, she was managed as a case of EGPA based on palpable, erythematous, nonpruritic rash on the lower extremities, peripheral eosinophilia (54%), adult-onset asthma, mononeuritis multiplex, cardiac symptoms, (+) p-ANCA and leukocytoclastic vasculitis with eosinophils and early granuloma formation on skin punch biopsy. The 2D-echocardiography showed an elevated estimated pulmonary pressure with signs of right sided volume overload. Chest computed tomography with contrast revealed right atrial and biventricular enlargement, hepatomegaly and unremarkable pulmonary findings. Methylprednisolone along with intravenous cyclophosphamide pulse therapy were initiated which resulted in the resolution of symptoms with normalization of blood eosinophils. Repeat 2D-echocardiogram had unremarkable findings as well. With the improvement noted, she was then maintained on glucocorticoids and mycophenolate mofetil.

Although EGPA commonly presents with symptoms of asthma, rhinosinusitis and/or peripheral eosinophilia, one uncommon presentation would be cardiac manifestations, specifically progressive pulmonary arterial hypertension with subsequent right sided heart failure. High dose glucocorticoids along with other immunosuppressants such as cyclophosphamide, are the treatment options in managing life-threatening conditions. Early detection is crucial in the prevention of grave outcomes.

Acute cerebral infarction predominantly occurs in middle-aged and elderly individuals with multiple underlying diseases， and it is often accompanied by atherosclerosis or heart diseases. It has a low incidence rate in children and adolescents， who tend to have atypical symptoms in the early stage， leading to misdiagnosis or missed diagnosis. With the continuous development of imaging technology， the diagnosis of cerebral infarction has become more precise， which helps to further clarify the etiology of cerebral infarction and identify an increasing number of patients with different subtypes of cerebral infarction in clinical practice. This article reports a rare case of a pediatric patient with acute cerebral infarction caused by primary central nervous system vasculitis， which led to neurological dysfunction， in order to improve the awareness of cerebral infarction in children among clinicians.
Vasculitis

OBJECTIVE: To explore the clinical and genetic characteristics of a boy with X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2). METHODS: A boy who was admitted to Children's Hospital Affiliated to Zhengzhou University in December 2023 due to recurrent oral ulcers for 2 years, intermittent abdominal pain and fever for more than 1 year was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. A literature search was conducted in OMIM, PubMed, Wanfang Data Knowledge Service Platform, China Biomedical Literature Service System, and the VIP database using the keywords "ELF4 gene" "deficiency in ELF4, X-linked" "ELF4 deficiency" and "DEX" to identify recently published studies. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No.: 2023-H-K44). RESULTS: The patient, a 12-year-old male, presented with recurrent mouth ulcers, fever and abdominal pain. Lymphocyte subsets showed a significant decrease in NK cells. Abdominal CT showed thickening of local intestinal wall in the lower right abdomen. Colonoscopy revealed a solitary deep longitudinal ulcer in the ileocecal region. Genetic testing revealed a hemizygote missense variant c.687C>G, with his mother showing the same mutation at this locus. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was considered likely pathogenic (PP1+PP2+PM2_Supporting+PP3+PP4). Literature review has found 19 AIFBL2 patients including 1 patient from this study. Mouth ulcer, fever, rash and abdominal pain were the primary clinical manifestations, for which genetic testing is the main diagnostic method. CONCLUSION The hemizygote c.687C>G missense variant of the ELF4 gene probably underlay the AIFBL2 in this child, which has provided a basis for his clinical diagnosis and genetic counseling.
Humans ; Male ; Behcet Syndrome/genetics* ; Child ; DNA-Binding Proteins/genetics* ; Exome Sequencing ; Hereditary Autoinflammatory Diseases/genetics* ; Mutation

IgA nephropathy (IgAN) is the most common primary glomerular disease in China and a leading cause of end-stage renal disease (uremia) in young adults. The diagnosis, prognostic assessment, and treatment strategies for IgAN and IgA vasculitis with nephritis (IgAVN) have been comprehensively evaluated by the Scientific Committee of the China IgA Nephropathy Network (IIgANN-China) and the Chinese Preventive Medicine Association's Committee for the Prevention and Control of Kidney Diseases based on recent literature and evidence-based medicine. As a result, clinical practice guidelines specifically tailored to Chinese patients have been developed. These guidelines introduce an integrated therapeutic framework that incorporates risk-stratified treatment, targeting both immune-mediated renal injury and chronic kidney disease progression, as well as stage-specific treatment, including both the induction and maintenance phases. The aim is to provide standardized guidance and practical recommendations for the clinical management of IgAN and IgAVN in China.
Humans ; Glomerulonephritis, IGA/diagnosis* ; China ; Adult ; Vasculitis/complications* ; Practice Guidelines as Topic ; Immunoglobulin A ; Prognosis ; Nephritis/therapy*