Patients with APOC2 or LPL deficiency show severe hypertriglyceridemia and chylomicronemia, and often manifest eruptive xanthomas, lipemia retinalis and acute and recurrent pancreatitis, which can be lethal (Breckenridge et al., 1978; Cox et al., 1978; Ewald et al., 2009; Goldberg and Merkel, 2001; Miller et al., 2011; Scherer et al., 2014; Watts et al., 2013). The gene discussed is APOC2; the disease is xanthoma.