Opportunistic Detection of Phytosterolaemia during Genetic Testing for FH: Case Series and Contextual Review.

Wann Jia LohDick C ChanJing Pang Amanda J HooperDamon BellGerald F Watts

Published in: The Journal of clinical endocrinology and metabolism (2024)

Phytosterolaemia is specific genetic disorder that can mimic FH, cause premature atherosclerosis, and require specific pharmacotherapy. Cascade testing for pathogenic ABCG5/G8 variants can lead to earlier detection and treatment of affected family members.

Keyphrases

loop mediated isothermal amplification
copy number
real time pcr
label free
cardiovascular disease
gene expression
smoking cessation
type diabetes
replacement therapy