Molecular analysis of patients with Familial Hypertriglyceridemia

Project: Other project

Project Details

Description

Familial hypertriglyceridemia (FHTG) is an autosomal dominant condition occurring in approximately 1% of the population [1]. Triglyceride levels, but not cholesterol, are elevated as a result of excess hepatic production of VLDL or LPL deficiency. In Oman, there is currently no data regarding the prevalence or the type of mutations of Familial Hypertriglyceridemia. This pilot study will be carried out to give an approximate estimate about FHTG prevalence and to compare the definitive diagnosis of FHTG between the 2 current methods (absence of LPL activity in plasma collected after intravenous injection of heparin versus molecular diagnosis by DNA sequence analysis).

Layman's description

Familial hypertriglyceridemia (FHTG) is an autosomal dominant condition occurring in approximately 1% of the population [1]. Triglyceride levels, but not cholesterol, are elevated as a result of excess hepatic production of VLDL or LPL deficiency. In Oman, there is currently no data regarding the prevalence or the type of mutations of Familial Hypertriglyceridemia. This pilot study will be carried out to give an approximate estimate about FHTG prevalence and to compare the definitive diagnosis of FHTG between the 2 current methods (absence of LPL activity in plasma collected after intravenous injection of heparin versus molecular diagnosis by DNA sequence analysis).
AcronymTTotP
StatusNot started

Keywords

  • Hypertriglyceridemia
  • lipoprotein lipase
  • molecular diagnosis

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