Archive for 2025
Helga
Despite having a long history of extremely high triglycerides I was only diagnosed after a severe pancreatic attack at the age of 48. I knew a bit about what a triglyceride was , but I’d never heard of FCS. Unfortunately neither had my GP! My pancreas has been permanently damaged and I have to take…
Read MoreValidation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)
Bilal Bashira,b ∙ See Kwoka ∙ Anthony S. Wierzbickic ∙ Alan Jonesd ∙ Charlotte Dawsone ∙ Paul Downief,g ∙ Fiona Jenkinsonh∙ Hannah Delaneyi ∙ Michael Mansfieldj ∙ Dev Dattak ∙ Yee Teohl ∙ Paul Hamiltonm,n ∙ Natalie Forrestero ∙ Dawn O’Sullivanp ∙ Maryam Ferdousia ∙ Paul N. Durringtona ∙ Alaa AbdelRazikq ∙ Antonio Gallor,s ∙ Philippe Moulint ∙ Handrean Sorana,b Abstract Background and aims Prognosis and management differ between familial chylomicronaemia syndrome (FCS), a rare autosomal recessive disorder, and multifactorial chylomicronaemia syndrome (MCS) or severe mixed hyperlipidaemia. A clinical scoring tool to differentiate these conditions has been devised but not been validated in other populations. The objective of this study was to…
Read MoreCurrent Dietary Practice in the Management of Adults with Familial Chylomicronaemia Syndrome
A UK Expert Panel Opinion Piece Introduction Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder with an estimated prevalence of 1–2 per million, which equates to 55–110 people in England.1, 2 FCS is characterised by severe fasting hypertriglyceridaemia (HTG), defined as triglyceride (TG) concentrations >10 mmol/L (885 mg/dL) by the European Atherosclerosis Society Consensus…
Read MoreRare Disease Day 2025
Rare Disease Day 2025 is Friday 28 February. Add your support to everyone who is affected by a rare disease. And meet our ultra-rare zebra!
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