Familial hypercholesterolaemia: A guide for general practice

Abstract

This guide provides a practical approach to making a clinical, phenotypic diagnosis of familial hypercholesterolaemia (FH) in general practice. Although FH is a common, hereditary, autosomal dominant disorder of lipid metabolism, it is often not identified in clinical practice. This guide explains when a possible diagnosis of FH should be considered and suggests clinical signs and symptoms to look for and the treatment pathway for patients. It includes suggestions for follow-up of close family members and for diagnosis and management of children.

Keywords

familial hypercholesterolaemia (FH), diagnosis, treatment, guide

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