J Clin Exp Hepatol. 2024 Mar-Apr;14(2):101288. doi: 10.1016/j.jceh.2023.09.009. Epub 2023 Sep 28.

ABSTRACT

BACKGROUND: Transient infantile hypertriglyceridemia (TIH) is a syndrome of hypertriglyceridemia, fatty liver, and deranged liver functions with progression to fibrosis and cirrhosis. It is an autosomal recessive disorder caused by mutations in Glycerol-3-phosphate dehydrogenase 1 gene present on Chromosome 12q12-q13, and has been reported in Israeli Arab families with high consanguinity. TIH is suspected by high serum triglyceride levels and steatosis on liver biopsy; however, diagnosis is confirmed on clinical exome sequencing.

CLINICAL DESCRIPTION: We present two cases of TIH belonging to the indigenous Hindu, hilly population of Himachal Pradesh in North India with no history of either consanguinity or family history.

MANAGEMENT AND OUTCOME: The parents of both the cases were counselled regarding the disease and importance of growth and lipid level monitoring.

CONCLUSION: Though TIH is an extremely rare entity, awareness about it is required as it is a contributor to non-alcoholic fatty liver disease (NAFLD) in children. Any child presenting with hepatomegaly and elevated fasting triglyceride levels should be further investigated for TIH.

PMID:38076448 | PMC:PMC10709506 | DOI:10.1016/j.jceh.2023.09.009