Journal
JOURNAL OF CLINICAL AND EXPERIMENTAL HEPATOLOGY
Volume 14, Issue 2, Pages -Publisher
ELSEVIER - DIVISION REED ELSEVIER INDIA PVT LTD
DOI: 10.1016/j.jceh.2023.09.009
Keywords
hypertriglyceridemia; fatty liver; liver function test; fibrosis; NAFLD
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This article presents two cases of transient infantile hypertriglyceridemia (TIH) from Himachal Pradesh in North India, with no consanguinity or family history. Diagnosis and management of the disease require comprehensive counseling and monitoring for the patients and their families.
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.
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