RT Journal Article
SR Electronic
T1 Inherited metabolic disorders and dyslipidaemia
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 384
OP 390
DO 10.1136/jclinpath-2019-205910
VO 73
IS 7
A1 Sulaiman, Raashda A
YR 2020
UL http://jcp.bmj.com/content/73/7/384.abstract
AB Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life, and it usually takes longer before the diagnosis is established. Increased awareness of these disorders among clinicians is imperative for early diagnosis. This best practice review provides an overview of primary dyslipidaemias, highlighting their clinical presentation, relevant biochemical and molecular tests. It also addresses the emerging role of genetics in the early diagnosis and prevention of these disorders.