Article
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.
Atherosclerosis - 1 Jul 2017
Steinhagen-Thiessen Elisabeth, Stroes Erik, Soran Handrean, Johnson Colin, Moulin Philippe, Iotti Giorgio, Zibellini Marco, Ossenkoppele Bas, Dippel Michaela, Averna Maurizio R
Abstract excerpt
A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its...
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