Hypertriglyceridemia induced
acute pancreatitis is a rare cause of
pancreatitis in children. Hepatic
lipase deficiency is an extremely rare cause of
hypertriglyceridemia, reported in only a few families to date. Hepatic
lipase is the
enzyme involved in the hydrolysis of
triglycerides and
phospholipids in remnants of
triglyceride-rich
lipoproteins that have a role in the conversion of
very low density lipoprotein remnants to
low density lipoproteins. Hepatic
lipase deficiency is inherited in an autosomal recessive pattern. Detection of heterozygous carriers of hepatic
lipase mutations remains accidental at the population level, as affected persons with a heterozygous state of hepatic
lipase mutation do not display specific
lipoprotein abnormalities and also patients with complete hepatic
lipase deficiency have inconstant phenotype. The proximal promoter of the LIPC gene consists of four polymorphic sites in complete linkage disequilibrium. Five missense mutations in encoding exons have been described and proved to be responsible for hepatic
lipase deficiency to date: S267F, T383M, L334F, A174T, and R186H, affecting the activity and secretion of hepatic
lipase. We identified a primary disorder of the lipid metabolism as the cause of the acute episode of
pancreatitis in a four years old patient, consisting of hepatic
lipase deficiency caused by a novel genetic variant of the LIPC gene, a gross deletion of the genomic region encompassing exon 1. This variant was not previously described in the literature in persons with LIPC-related disorders and its significance is currently uncertain, but in the presented clinical and paraclinical context, it has the characteristics of a pathological variant inducing a hepatic
lipase deficiency phenotype.