Kliniczne i molekularne aspekty genetycznej hipertriglicerydemiiu dzieci z północnych Indii: seria przypadków

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.