ESPE Abstracts

Objective: Pediatric hypertriglyceridemia (HTG), has considerable phenotypic and genotypic variability. We aim ed to describe the clinical and genotypic profile of Indian children presenting with severe HTG.

Methods: This retrospective study (January 2022-December 2023) was conducted in children up to 12 years of age. Those presenting with severe HTG (triglycerides >500 mg/dL) were included after exclusion of known secondary causes.

Results: Out of twenty-seven children diagnosed with severe HTG, seventeen had secondary causes. Data for ten patients [six boys, age at diagnosis 0.9 years (0.35 – 6.35 years)] is presented here. The presenting features were incidental detection of lipaemic serum (60%), failure to thrive (33%), loss of subcutaneous fat (22.2%), and progressive abdominal distension (22.2%). Median triglyceride (TG) level at baseline was 2996.5 mg/dL (1797-3543 mg/dL). A genetic etiology could be identified in nine cases [Familial Chylomicronemia Syndrome, FCS in five (LPL - 3, APOA5 -2) congenital lipodystrophy syndrome in two (AGPAT2 and LMNA in one each), glycogen storage disorder type 1a (G6PC) in one, and glycerol kinase deficiency (GK) in one child. Children with FCS presented earlier (0.59 vs 6.5 years, P < 0.001). The baseline TG levels could not differentiate between the groups (P = 0.083). At a mean duration of follow up of 1.36 (1.19) years, median TG levels for FCS and non-FCS groups were 1256 mg/dL (890.5-1442.5) and 548 mg/dL (284-1342), respectively. All children in the FCS group received fibrates while those in the non-FCS group were prescribed fibrates ± statins. The subject with GKD (pseudo hypertriglyceridemia) did not require treatment. None of the subjects developed pancreatitis. Low-fat formulas remain largely unaffordable in our setting. Hence, a blend of skimmed formula/skimmed breast milk, corn flour, and medium chain triglyceride/coconut oil was tried in infancy. Dietary modifications did not decrease TG levels to treatment target of <1000 mg/dL in FCS, invariably requiring drug administration in all. Only one patient (25%) with FCS had TG levels <1000 mg/dL, while all but one (75%) non-FCS subject had TG levels < 500 mg/dL at the last follow-up.

Conclusion: Most pediatric HTG is incidentally detected and FCS remains the commonest cause. FCS presents earlier, but is resistant to conform to treatment targets. As baseline TG levels are non-predictive, genetic characterization is essential for classification and prognostication. To the best of our knowledge, this is the first known cohort and follow up of children with HTG from Asia.