Experimental Therapeutics for Challenging Clinical Care of a Patient with an Extremely Rare Homozygous APOC2 Mutation

Figure 2

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.

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