Improving familial dyslipidaemia diagnosis

http://hdl.handle.net/10400.18/6352

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Authors

Abstract(s)

Aim: Familial Hypercholesterolemia (FH) is characterized clinically by high LDL plasma concentrations from birth leading to premature atherosclerosis and CHD. Only 40% of the patients enrolled in the Portuguese FH Study carry a putative pathogenic mutation. The remaining individuals may have polygenic forms of dyslipidaemia or mutations in genes not yet associated with FH.

Keywords

Familial Hypercholesterolemia Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/6352

Citation

Atherosclerosis. 2018 Aug;275:e99. doi: 10.1016/j.atherosclerosis.2018.06.270

Publisher

Elsevier/ European Atherosclerosis Society

DOI

10.1016/j.atherosclerosis.2018.06.270

Collections

DPSPDNT - Posters/abstracts em congressos internacionais

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