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

Table 1

Typical characteristics of familial chylomicronemia syndrome.

General features of FCS
Electrophoretic characteristic	Type I hyperlipoproteinemia
Genetics	Monogenic (biallelic, autosomal recessive)
Prevalence	1 in 100,000 to 1,000,000
Disease onset	Childhood/adolescent > adulthood
Clinical manifestations	Abdominal pain
	Eruptive xanthoma
	Lipemia retinalis
	Pancreatitis
	Hepatosplenomegaly
	Lactescent plasma
Response to TG-lowering medications	None to marginal
Association with CVD	None to minimal risk
Lipoprotein features of FCS
Major lipoproteins	Chylomicrons
Lipoprotein characteristics^1,2	TG: >1,000 mg/dL; >11.3 mmol/L
	TG/TC ratio:
	>5 (mg/dL)/(mg/dL); >2 (mmol/L)/(mmol/L)
	TG/ApoB ratio:
	≥8.8 (mg/dL)/(mg/dL); ≥10 (mmol/L)/(g/L)
	ApoB: <75 mg/dL; <0.75 g/L

FCS: familial chylomicronemia syndrome, CVD: cardiovascular disease, TG: triglyceride, TC: total cholesterol, and ApoB: apolipoprotein B.