Pediatric Endocrinology Diabetes and Metabolism
en POLSKI
eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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1/2025
vol. 31
 
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abstract:
Original paper

Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series

Sayan Banerjee
1
,
Arun George
1
,
Pamali Mahaswata Nanda
1
,
Anju Bala
1
,
Inusha Panigrahi
2
,
Chennakeshava Thunga
3
,
Sadhna Lal
3
,
Savita Verma Attri
4
,
Jayakanthan Kabeerdoss
4
,
Devi Dayal
1

  1. Endocrinology and Diabetes Unit, Department of Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
  2. Genetic-Metabolic Unit, Department of Paediatrics, Postgraduate Institute of Medical Education and Research Chandigarh, India
  3. Department of Paediatric Gastroenterology, Hepatology, and Nutrition, Postgraduate Institute of Medical Education and Research Chandigarh, India
  4. Biochemistry Unit, Department of Paediatrics, Postgraduate Institute of Medical Education and Research Chandigarh, India
Pediatr Endocrinol Diabetes Metab 2025; 31: 25-29
DOI: https://doi.org/10.5114/pedm.2025.148401
Online publish date: 2025/04/03
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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.

keywords:

genetics, hypertriglyceridaemia

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