PT  - JOURNAL ARTICLE
AU  - Sulaiman, Raashda A
TI  - Inherited metabolic disorders and dyslipidaemia
AID  - 10.1136/jclinpath-2019-205910
DP  - 2020 Jul 01
TA  - Journal of Clinical Pathology
PG  - 384--390
VI  - 73
IP  - 7
4099  - http://jcp.bmj.com/content/73/7/384.short
4100  - http://jcp.bmj.com/content/73/7/384.full
SO  - J Clin Pathol2020 Jul 01; 73
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.