Publications - EAS

Welcome to our Publication Library

Explore a curated selection of recently published papers by members of our Working Group. These publications highlight key developments and insights across several important areas of research in familial hypercholesterolaemia (FH). We hope you find the collection both valuable and inspiring.

Newborn Screening for FeFH and FoFH using dried blood spots

May 1, 2026 | Screening for FH, Paediatric Lipid Working Group

Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.

Amy L Peterson,

Vanessa Horner,

Michael R Lasarev,

Steve Humphries,

Robert D Steiner,

Jessica Tumolo,

Patrice K Held,

Xiangqiang Shao

October 29, 2025 | Screening for FH, Publication, Paediatric Lipid Working Group

Pregnancy and breastfeeding in FH

October 17, 2025 | HoFH Awareness Day, Webinars on-demand, Paediatric Lipid Working Group

Universal paediatric screening for FH – pros & cons

Steve Humphries

October 17, 2025 | HoFH Awareness Day, Webinars on-demand, Paediatric Lipid Working Group

Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double- Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial

Albert Wiegman,

Amy L Peterson,

Anja Schweizer,

Anastasia Lesogor,

June 25, 2025 | Other, Paediatric Lipid Working Group

Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).

Beatriz Miranda,

Albert Wiegman,

Ana Margarida Medeiros,

Ana Catarina Alves,

Tomas Freiberger,

Barbara Hutten,

Matej Mlinarič,

Tadej Battelino,

Steve Humphries,

Mafalda Bourbon,

June 20, 2025 | Screening for FH, Publication, Paediatric Lipid Working Group

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

Bethany Stafford-Smith,

Michelle Peter,

Jana Gurasashvili,

Rashida Baptiste,

Xavier Bracke-Manzanares,

Lamprini Georgiou,

Adele Green-Armytage,

Blanche Griffin,

Bethany Lumborg,

Ben Paternoster,

Meena Balasubramanian,

Virginia Clowes,

Philandra Costello,

Bianca DeSouza,

Rachel Harrison,

Steve Humphries,

Elizabeth A Jones,

Deborah Holiday,

Meriel McEntagart,

Suresh Somarathi,

Vishakha Tripathi,

Stephen Morris,

April 19, 2025 | Psychological impact of FH diagnosis, Publication, Paediatric Lipid Working Group

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.

Steve Humphries,

April 2, 2025 | Genetics of FH, Publication, Paediatric Lipid Working Group

Cardiovascular disease morbidity is associated with social deprivation in subjects with familial hypercholesterolaemia (FH): A retrospective cohort study of individuals with FH in UK primary care and the UK Simon Broome register, linked with national hospital records.

Nadeem Qureshi,

P N Durrington,

Handrean Soran,

Steve Humphries

April 1, 2025 | Clinical studies of atherosclerosis in FH, Publication, Paediatric Lipid Working Group

Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.

Amany Elshorbagy,

Antonio J. Vallejo-Vaz,

Alexander R M Lyons,

Christophe A T Stevens,

Kanika I Dharmayat,

Alberico L. Catapano,

Tomas Freiberger,

Frederick Raal,

Handrean Soran,

Marianne Abifadel,

Carlos A Aguilar-Salinas,

Khalid F Alhabib,

Mutaz Al-Khnifsawi,

Wael Almahmeed,

Rodrigo Alonso Alonso,

Khalid Al-Rasadi,

Ahmad Al-Sarraf,

Tester F Ashavaid,

Maurizio Averna,

Marianne Becker,

Christoph Binder,

Mafalda Bourbon,

Krzysztof Chlebus,

Kairat Davletov,

Olivier S Descamps,

Bambang Dwiputra,

Mariko Harada-Shiba,

Kirsten Holven,

Steve Humphries,

Meral Kayikcioglu,

Weerapan Khovidhunkit,

Katarina Lalic,

Gustavs Latkovskis,

Evangelos Liberopoulos,

Marcos M Lima-Martinez,

Winfried März,

Erkin Mirrakhimov,

André R Miserez,

Olena Mitchenko,

Hapizah Nawawi,

Børge Nordestgaard,

Andrie G Panayiotou,

György Paragh,

Zaneta Petrulioniene,

Arman Postadzhiyan,

Wilson Ehidiamen Sadoh,

Heribert Schunkert,

Aleksandr Shek,

Tavintharan Subramaniam,

Andrey V Susekov,

Brian Tomlinson,

Thanh Huong Truong,

Alexandros Tselepis,

Anne Tybjaerg-Hansen,

Alejandra Vázquez-Cárdenas,

Margus Viigimaa,

Branislav Vohnout,

Shizuya Yamashita,

March 24, 2025 | Epidemiology of FH, Publication, Paediatric Lipid Working Group