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Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bilal BashirPaul DownieNatalie ForresterAnthony S WierzbickiCharlotte DawsonAlan JonesFiona JenkinsonMichael MansfieldDev DattaHannah DelaneyYee TeohPaul HamiltonMaryam FerdousiSee KwokDawn O'SullivanJian WangRobert A HegelePaul N DurringtonHandrean Soran
Published in: Arteriosclerosis, thrombosis, and vascular biology (2024)
The frequency of gene variant distribution varies based on the ethnic origin of patients with FCS. Patients with FCS are at a higher risk of pancreatic complications while the prevalence of atherosclerotic cardiovascular disease is lower in FCS compared with MCS. Carriers of heterozygous pathogenic variants have an intermediate phenotype between FCS and variant-negative MCS.
Keyphrases
  • cardiovascular disease
  • risk factors
  • copy number
  • early onset
  • type diabetes
  • genome wide
  • quality improvement
  • case report
  • cross sectional
  • cardiovascular events
  • transcription factor
  • genome wide analysis