case_images: PMC7149354_01
case_images: Patient's family pedigree. The patient is originally from Sudan, and many family members live overseas. Consanguinity is present on both sides. The patient's paternal and maternal grandparents are distantly related. The patient's sister and one brother have similar medical history with HTG and pancreatitis, as well as DM. His maternal uncles have HTG, and his maternal grandfather was known to have had HTG.
case_images: CRIE2020-1865489.001.jpg
case_images: PMC7149354_01_CRIE2020-1865489.001.jpg
case_images: fig1
case_images: Notably, his sister and one brother, as well as two maternal uncles had HTG with or without pancreatitis (Figure 1).
case_images: Fasting TG response to chronological therapeutic attempts. (a) The line represents our patient's TG response to a single dose of an experimental ANGPTL3 inhibitor. Within 10 days post-dose, TG fell >50%, remaining -50% to -35% below baseline for about 90 days afterwards. Overall, this effect lasted for about 120 days. (b) The line represents the patient's fasting TG in response to therapeutic plasma exchange (TPE) using two types of replacement infusions: albumin and fresh frozen plasma (FFP). The asterisks (*) indicate times when TG data are unavailable. The vertical bars indicate 7 hospital admissions: admissions 1, 2, 4, 5, and 7 (brown) for pancreatitis, admission 3 (gray) for anorexia, weakness, and anemia, admission 6 (gray) for the management of duodenal obstruction for pancreatic cysts, receiving total parental nutrition before converting to jejunostomy feeding followed by slowly resuming oral intake after discharge. 5% albumin replacement only briefly lowered TG to about 500 to 1000 mg/dL after exchanging 1.0 plasma volume (PV). After switching, three sessions with FFP replacement were more effective in TG-lowering, with a sharp drop of TG to <150 mg/dL immediately post-infusion 1 and to <75 mg/dL post-infusions 2 and 3. His TG remained <1000 mg/dL for about a month even after the discharge from the hospital. (c) The line presents our patient's TG response to two doses of an experimental APOC3 inhibitor that were given a week apart. His baseline TG of 2,200 mg/dL fell >60% within about 15 days of the first dose. TG remained <1,000 mg/dL (<50%) until past 30 days, and <2,000 mg/dL for 55 days post-dose 1.
case_images: CRIE2020-1865489.002.jpg
case_images: PMC7149354_01_CRIE2020-1865489.002.jpg
case_images: fig2
case_images: TG fell ~50% from 3,437 mg/dL within 10 days (Figure 2(a)). The average reduction was ~40% during the first 80 days, and TG remained below baseline for 90 days post-dose. On albumin TPE, TG fell 70-85% to <1,000 mg/dL but rebounded to >2,000 mg/dL within 2 weeks of each session (Figure 2(b)). TG fell by >60% and remained <1,000 mg/dL for 40 days post-dose 1. TGs did not rebound back to >2,000 mg/dL until 50 days post-dose (Figure 2(c)).