Bilal Bashir, Jan H Ho, Paul Downie, Paul Hamilton, Gordon Ferns, Dev Datta, Jaimini Cegla, Anthony S Wierzbicki, Charlotte Dawson, Fiona Jenkinson, Hannah Delaney, Michael Mansfield, Yee Teoh, Zosia Miedzybrodzka, Haya Haso, Paul N Durrington, Handrean Soran
We have reviewed the genetic basis of chylomicronaemia, the difference between monogenic and polygenic hypertriglyceridaemia, its effects on pancreatic, cardiovascular, and microvascular complications, and current and potential future pharmacotherapies. Severe hypertriglyceridaemia (TG > 10 mmol/L or 1000 mg/dL) is rare with a prevalence of <1%. It has a complex genetic basis. In some individuals, the inheritance of a single rare variant with a large effect size leads to severe hypertriglyceridaemia and fasting chylomicronaemia of monogenic origin, termed as familial chylomicronaemia syndrome (FCS)...
April 30, 2023: Metabolites