{"title":"Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.","authors":"Sayan Banerjee, Arun George, Pamali Mahaswata Nanda, Anju Bala, Inusha Panigrahi, Chennakeshava Thunga, Sadhna Lal, Savita Verma Attri, Jayakanthan Kabeerdoss, Devi Dayal","doi":"10.5114/pedm.2025.148401","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>To characterise severe hypertriglyceridaemia (HTG) in Indian children, focusing on clinical and genetic profiles.</p><p><strong>Material and methods: </strong>A retrospective analysis from January 2017 to December 2023 included children up to 14 years old with triglyceride (TG) levels > 500 mg/dl, excluding children with known secondary causes.</p><p><strong>Results: </strong>Among 18 children with severe HTG, 7 had secondary causes. Data from 11 patients (7 boys, median age at diagnosis 0.9 [0.45-2.4] years) revealed presenting features such as lipemic serum (63.3%), failure to thrive (36.3%), loss of subcutaneous fat (18.2%), and abdominal distension (18.2%). Genetic aetiology was identified in 10 cases, with familial chylomicronaemia syndrome (FCS) being the most prevalent (6 cases) caused by the lipoprotein lipase (LPL) and apolipoprotein A-V (APOA5) gene mutations. One each had mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), lamin A/C (LMNA), glucose-6-phosphatase catalytic subunit (G6PC), and glycerol kinase (GK) genes. FCS patients presented earlier and were resistant to treatment targets, requiring drug therapy. At the final follow-up (mean duration 1.75 ±1.0 years) of 9 patients, the median TG levels for the FCS and non-FCS groups were 1240 (610-1,685) and 412 (247.5-993) mg/dl, respectively. Only 2 patients (40%) with FCS had TG levels < 1000 mg/dl, while all but one (75%) non-FCS subjects had TG levels < 500 mg/dl at the last follow-up. One child developed acute pancreatitis during the said duration.</p><p><strong>Conclusions: </strong>Paediatric HTG is often detected incidentally. Genetic characterisation is crucial for prognosis because baseline TG levels are non-predictive. Drug therapy helps to reach treatment targets in most of the patients.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"25-29"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051102/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Endocrinology, Diabetes and Metabolism","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5114/pedm.2025.148401","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: To characterise severe hypertriglyceridaemia (HTG) in Indian children, focusing on clinical and genetic profiles.
Material and methods: A retrospective analysis from January 2017 to December 2023 included children up to 14 years old with triglyceride (TG) levels > 500 mg/dl, excluding children with known secondary causes.
Results: Among 18 children with severe HTG, 7 had secondary causes. Data from 11 patients (7 boys, median age at diagnosis 0.9 [0.45-2.4] years) revealed presenting features such as lipemic serum (63.3%), failure to thrive (36.3%), loss of subcutaneous fat (18.2%), and abdominal distension (18.2%). Genetic aetiology was identified in 10 cases, with familial chylomicronaemia syndrome (FCS) being the most prevalent (6 cases) caused by the lipoprotein lipase (LPL) and apolipoprotein A-V (APOA5) gene mutations. One each had mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), lamin A/C (LMNA), glucose-6-phosphatase catalytic subunit (G6PC), and glycerol kinase (GK) genes. FCS patients presented earlier and were resistant to treatment targets, requiring drug therapy. At the final follow-up (mean duration 1.75 ±1.0 years) of 9 patients, the median TG levels for the FCS and non-FCS groups were 1240 (610-1,685) and 412 (247.5-993) mg/dl, respectively. Only 2 patients (40%) with FCS had TG levels < 1000 mg/dl, while all but one (75%) non-FCS subjects had TG levels < 500 mg/dl at the last follow-up. One child developed acute pancreatitis during the said duration.
Conclusions: Paediatric HTG is often detected incidentally. Genetic characterisation is crucial for prognosis because baseline TG levels are non-predictive. Drug therapy helps to reach treatment targets in most of the patients.