Banerjee Sayan, George Arun, Nanda Pamali Mahaswata, Bala Anju, Panigrahi Inusha, Thunga Chennakeshava, Lal Sadhna, Verma Attri Savita, Kabeerdoss Jayakanthan, Dayal Devi
Endocrinology and Diabetes Unit, Department of Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Genetic-Metabolic Unit, Department of Paediatrics, Postgraduate Institute of Medical Education and Research Chandigarh, India.
Pediatr Endocrinol Diabetes Metab. 2025;31(1):25-29. doi: 10.5114/pedm.2025.148401.
To characterise severe hypertriglyceridaemia (HTG) in Indian children, focusing on clinical and genetic profiles.
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.
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.
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.
为了描述印度儿童严重高甘油三酯血症（HTG）的特征，重点关注临床和基因概况。
对2017年1月至2023年12月进行回顾性分析，纳入14岁及以下甘油三酯（TG）水平>500mg/dl的儿童，排除已知继发原因的儿童。
在18例严重HTG儿童中，7例有继发原因。11例患者（7名男孩，诊断时中位年龄0.9[0.45 - 2.4]岁）的数据显示出一些临床表现，如脂血血清（63.3%）、生长发育迟缓（36.3%）、皮下脂肪减少（18.2%）和腹胀（18.2%）。10例患者确定了基因病因，家族性乳糜微粒血症综合征（FCS）最为常见（6例），由脂蛋白脂肪酶（LPL）和载脂蛋白A-V（APOA5）基因突变引起。各有1例分别在1-酰基甘油-3-磷酸O-酰基转移酶2（AGPAT2）、核纤层蛋白A/C（LMNA）、葡萄糖-6-磷酸酶催化亚基（G6PC）和甘油激酶（GK）基因发生突变。FCS患者发病较早，对治疗目标有抵抗性，需要药物治疗。在9例患者的最终随访（平均时长1.75±1.0年）中，FCS组和非FCS组的中位TG水平分别为1240（610 - 1685）mg/dl和412（247.5 - 993）mg/dl。在最后一次随访时，只有2例（40%）FCS患者的TG水平<1000mg/dl，而除1例之外的所有非FCS患者（75%）的TG水平<500mg/dl。在上述期间，1名儿童发生了急性胰腺炎。
儿童HTG常为偶然发现。基因特征对于预后至关重要，因为基线TG水平无预测性。药物治疗有助于大多数患者达到治疗目标。
