Subjects with biallelic LPL variants that result in the complete or almost complete loss of LPL function develop type I hyperlipoproteinemia or familial chylomicronemia syndrome, a rare autosomal recessive metabolic disorder that usually occurs in childhood and is characterized by severe HTG with episodes of abdominal pain, recurrent AP, eruptive cutaneous xanthomata and hepatosplenomegaly [13]. The gene discussed is LPL; the disease is familial lipoprotein lipase deficiency.