Clinical course and management of hypertriglyceridemia thalassemia syndrome:A case-based systematic review  

作　　者：Chane Choed-Amphai Pattranan Kusontammarat Supapitch Chanthong Nattawan Arkarattanakul Poonyapon Rodchaprom Lalita Sathitsamitphong Rungrote Natesirinilkul Pimlak Charoenkwan 

机构地区：[1]Department of Pediatrics,Faculty of Medicine,Chiang Mai University,Chiang Mai 50200,Thailand [2]Department of Pediatrics,Fang Hospital,Chiang Mai 50110,Thailand [3]Thalassemia and Hematology Center,Faculty of Medicine,Chiang Mai University,Chiang Mai 50200,Thailand

出　　处：《World Journal of Clinical Pediatrics》2025年第2期117-125,共9页世界临床儿科杂志(英文)

摘　　要：BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides,information regar-ding clinical outcomes and standard management in this setting remains limited.AIM To identify the clinical course,treatment strategies,and outcomes of patients with hypertriglyceridemia thalassemia syndrome.METHODS We performed a comprehensive search of the Scopus,PubMed,and Embase databases.We included only English-language articles and did not apply any publication date limits.The databases were last accessed on September 1,2024.This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia,hypertriglyceridemia,and available data on clinical course.RESULTS A total of 14 publications were included in the analysis,all of which were case reports or case series.No higher-quality evidence was available.Among 28 children with hypertriglyceridemia thalassemia syndrome,there were 22 cases ofβ-thalassemia major and 6 cases of hemoglobin E/β-thalassemia,including our illustrative case.The median age of onset was 11 months,and 92.3%of cases presented prior to the first blood transfusion.The common clinical manifestations included pallor(100%)and hepatosplenomegaly(67.9%).For hypertriglyceridemia-related symptoms,lipemia retinalis and xanthomas were observed in 25.0%and 10.7%of cases,respectively.The median hemoglobin level was 5.5 g/dL,while the median triglyceride level was 935 mg/dL.For management,92.9%of cases received blood transfusions with or without other interventions.At a median of 12 months’follow-up,all patients responded to the treatment without lipid-lowering agents,and 85.7%of cases were alive.CONCLUSION Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hyp

关 键 词：THALASSEMIA HYPERTRIGLYCERIDEMIA DYSLIPIDEMIA CHILDREN TRANSFUSION 

分 类 号：R55[医药卫生—血液循环系统疾病]