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.

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

Humans ; Takayasu Arteritis/therapy* ; Child ; Consensus

OBJECTIVES: To study the clinical characteristics of pediatric Behçet syndrome (BS). METHODS: A retrospective review was conducted on the medical records of children hospitalized in the Department of Pediatrics at the Second Hospital of Hebei Medical University between December 2014 and December 2024 who met diagnostic criteria for BS. RESULTS: Among 45 children with BS, 26 (58%) were male. Oral aphthous ulcers were the most common manifestation (43/45, 96%), followed by genital ulcers (23/45, 51%) and gastrointestinal involvement (18/45, 40%). Genital ulcers were more frequent in girls, whereas ocular involvement was more common in boys (<i>Pi><0.05). The pathergy test was positive in 10 (22%), and HLA-B51 was positive in 13 (29%). Fecal calprotectin (FC) was elevated in 16 (36%); gastrointestinal involvement was more frequent in children with elevated FC than in those with normal FC (<i>Pi><0.05). According to the respective criteria, 17 (38%) patients met the International Study Group criteria (1990), 33 (73%) met the International Criteria for Behçet Disease (2014), and 13 (29%) met the Pediatric Behçet Disease criteria (2015). CONCLUSIONS Pediatric BS shows marked clinical heterogeneity. HLA-B51 is associated with disease susceptibility.
Humans ; Behcet Syndrome/genetics* ; Male ; Female ; Child ; Retrospective Studies ; Adolescent ; Child, Preschool ; Leukocyte L1 Antigen Complex/analysis* ; HLA-B51 Antigen

An 11-year-old boy presented with erythematous plaques over the bilateral mandibular and mental regions for 2 years, accompanied by cough and dyspnea for more than 2 months. Chest computed tomography angiography revealed marked stenosis of the right pulmonary artery, irregular aortic caliber, and aortic wall thickening. Histopathological examination of the skin lesion, including immunohistochemistry and special stains, confirmed a chronic suppurative inflammation. Whole-exome sequencing was negative. A final diagnosis of granuloma faciale and Takayasu arteritis was established. Combination therapy with systemic tocilizumab, prednisone, and methotrexate, along with topical 0.1% tacrolimus ointment, resulted in a favorable clinical response. This report summarizes the clinical features of a pediatric case of granuloma faciale and Takayasu arteritis and reviews the etiology, diagnostic approach, and current treatment strategies for the disorders, aiming to enhance clinicians' understanding of these conditions.
Humans ; Male ; Child ; Takayasu Arteritis/diagnosis* ; Facial Dermatoses/diagnosis*

Myelodysplastic syndromes (MDS) are clonal hematopoietic neoplasms characterized by chronic cytopenias and abnormal cell morphology, with a propensity of progressing to bone marrow failure or acute myeloid leukemia. Behçet's syndrome is a systemic vasculitis characterized by recurrent oral ulcers, skin lesions, and ocular inflammation. In recent years, an increasing number of clinical cases with coexistence of MDS and Behçet's syndrome have been reported, suggesting a potential pathological relationship between these conditions. Abnormal immune cell activation, dysregulated cytokine secretion, and cytogenetic alterations are thought to play critical roles in the pathogenesis of MDS combined with Behçet's syndrome. Currently, treatment strategies for MDS combined with Behçet's syndrome are primarily individualized and include immunosuppressive therapy, cytotoxic drug therapy, targeted therapy, and hematopoietic stem cell transplantation. However, due to the limited number of case reports and insufficient research on the underlying mechanisms, selecting appropriate treatment options remains challenging. This article reviews the pathogenesis and interrelationships of MDS combined with Behçet's syndrome and summarizes recent advancements in treatment strategies, providing a reference for clinical management and further researches on related mechanisms.
Humans ; Behcet Syndrome/pathology* ; Myelodysplastic Syndromes/pathology* ; Disease Progression

OBJECTIVES: To explore the risk factors for malnutrition in patients with ulcerative colitis complicated with pyoderma gangrenosum and establish a nutritional risk prediction model for these patients. METHODS: A total of 277 patients with ulcerative colitis complicated with pyoderma gangrenosum treated from 2019 to 2024 were divided into malnutrition group (<i>ni>=185) and normal nutrition group (<i>ni>=92) according to whether malnutrition occurred. The data of 25 potential related factors pertaining to general demography, living and eating habits, and disease-related data were compared between the two groups. Lasso regression was used to screen the risk factors, and a nomogram model was established based on the screened factors and its prediction performance was assessed. RESULTS: The patients in the malnutrition group and normal nutrition group showed significant differences in 21 factors including gender, age, education level, BMI, place of residence, course of disease, and SAS language score (<i>Pi><0.05). Lasso regression analysis identified 6 factors associated with malnutrition in these patients, namely the duration of ulcerative colitis, activity of ulcerative colitis, duration of pyoderma gangrenosum, number of chronic diseases, SAS score, and sleep quality. The nomogram prediction model established based on these 6 factors had an AUC of 0.992 (95% <i>CIi>: 0.984-1.000) for predicting malnutrition in these patients, and its application in 14 clinical cases achieved an accuracy rate of 100%. CONCLUSIONS The duration of ulcerative colitis, activity of colitis, duration of pyoderma gangrenosum, number of chronic diseases, anxiety, and sleep quality are closely related with malnutrition in patients with ulcerative colitis complicated by pyoderma gangrenosum, and the nomogram prediction model based on these factors can provide assistance for predicting malnutrition in these patients.
Humans ; Colitis, Ulcerative/complications* ; Malnutrition/etiology* ; Risk Factors ; Pyoderma Gangrenosum/complications* ; Female ; Male ; Adult ; Nomograms ; Middle Aged ; Nutritional Status ; Regression Analysis

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

Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.Moreover,different pathogenic variants have different mechanisms in causing HAE.In addition,the pathogenic genes of some patients remain unknown.This review summarizes the recent progress in the classification,epidemiology,pathophysiology,and pathogenesis of HAE,aiming to provide ideas for further fundamental research,clinical diagnosis,and drug development of HAE.
Humans ; Angioedemas, Hereditary/diagnosis* ; Angiopoietin-1/metabolism* ; Plasminogen/metabolism* ; Kininogens/metabolism* ; Complement C1 Inhibitor Protein/metabolism*