Key result
Mutations in the APOA5 gene leading to truncated apolipoprotein A-V cause severe type V hyperlipidemia in homozygotes and predispose to hypertriglyceridemia in heterozygotes.
APOA5 mutations leading to apolipoprotein A-V deficiency are a genetic cause of severe hypertriglyceridemia and type V hyperlipidemia.
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APOA5 mutations associate with unexplained hypertriglyceridemia; extends known genetic causes beyond LPL/APOC2 but leaves clinical testing and prevalence open.
Calandra et al. (2006) conducted a review in Primary hypertriglyceridemia. APOA5 gene mutations was evaluated on Phenotype and lipoprotein abnormalities. Mutations in the APOA5 gene leading to truncated apolipoprotein A-V cause severe type V hyperlipidemia in homozygotes and predispose to hypertriglyceridemia in heterozygotes.
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