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Description
Familial chylomicronemia syndrome is a rare genetic disorder estimated to affect 1 to 2 individuals per million and characterized by hypertriglyceridemia, which is caused by mutations in LPL or genes that regulate LPL function which include but are not limited to APOC2, APOA5, GPIHBP1, and lipase maturation factor 1 (LMF1) [19,20]
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Based on genetic studies exhibiting altered lipid phenotypes in gain- or loss-of-function mutations in the abovementioned proteins regulating LPL activity, pharmaceutical companies have targeted these proteins to develop novel therapeutics to treat hypertriglyceridemia in patients who do not reach the target goal of TG after using the currently available drugs
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