Article
Medicine, General & Internal
Amy L. Peterson, Matthew Bang, Robert C. Block, Nathan D. Wong, Dean G. Karalis
Summary: Many physicians do not conduct cascade screening and are less likely to screen individuals with family history of known HeFH, compared to those with high cholesterol or premature ASCVD family history. Most physicians are willing to screen pediatric patients but only a few are willing to start treatment at recommended ages. Further education is needed to improve the diagnosis and treatment of HeFH.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Anastasia V. Blokhina, Alexandra I. Ershova, Alexey N. Meshkov, Anna V. Kiseleva, Marina V. Klimushina, Anastasia A. Zharikova, Evgeniia A. Sotnikova, Vasily E. Ramensky, Oxana M. Drapkina
Summary: Familial hypercholesterolemia (FH) is a common genetic disorder that leads to premature cardiovascular diseases and high risk of death. Cascade screening is a cost-effective method for identifying new FH cases and preventing cardiovascular diseases. Genetic screening is the most effective way to identify new FH cases.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Hayato Tada, Hirofumi Okada, Akihiro Nomura, Atsushi Nohara, Masakazu Yamagishi, Masayuki Takamura, Masa-aki Kawashiri
Summary: This study aimed to evaluate the prognostic impact of cascade screening for patients with familial hypercholesterolemia (FH). The results showed that patients identified through cascade screening were on average younger and had a lower risk for major adverse cardiac events (MACE) under milder lipid-lowering therapies compared to the probands.
JOURNAL OF CLINICAL LIPIDOLOGY
(2021)
Article
Genetics & Heredity
Man-Kwan Yip, Elaine Yin-Wah Kwan, Jenny Yin-Yan Leung, Emmy Yuen-Fun Lau, Wing-Tat Poon
Summary: This study highlights the underdiagnosis of familial hypercholesterolemia (FH) in Asia and the importance of genetic testing and cascade screening in the accurate identification and management of FH cases, especially in adult individuals with a positive family history of premature cardiovascular disease.
Article
Genetics & Heredity
Alexandra A. Miller, Hana Bangash, Carin Y. Smith, Christina M. Wood-Wentz, Kent R. Bailey, Iftikhar J. Kullo
Summary: This study compared the detection of new cases in familial hypercholesterolemia (FH) families with or without an identifiable monogenic etiology. The results showed a higher detection rate of new cases in families with a monogenic etiology, primarily due to a higher uptake and yield of cascade testing.
GENETICS IN MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Trond P. Leren, Martin Proven Bogsrud
Summary: The cascade genetic screening program for autosomal dominant hypercholesterolemia in Norway has been running for 20 years and has been successful in identifying a significant number of at-risk relatives. Despite a high proportion of mutation-positive relatives undergoing lipid-lowering therapy, a large number still had suboptimal LDL cholesterol levels.
JOURNAL OF CLINICAL LIPIDOLOGY
(2021)
Article
Medicine, General & Internal
Fernando Sabatel-Perez, Joaquin Sanchez-Prieto, Victor Manuel Becerra-Munoz, Juan Horacio Alonso-Briales, Pedro Mata, Luis Rodriguez-Padial
Summary: This study evaluated the diagnostic yield of an active screening for familial hypercholesterolemia index cases (FH-IC) based on centralized analytical data. Results showed that a sequential, active screening strategy increased the diagnostic yield for FH and may facilitate the implementation of FH universal and family-based cascade screening strategies.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Zhiyong Du, Yunhui Du, Linyi Li, Haili Sun, Chaowei Hu, Long Jiang, Luya Wang, Yanwen Qin
Summary: This study discovered a unique metabolic pattern for screening homozygotes in patients with severe familial hypercholesterolemia (FH) through metabolomic profiling. By using this cost-effective method, homozygotes can be preselected in FH patients, allowing clinicians to conduct selective genetic confirmation testing and familial cascade screening.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Samuel S. Gidding
Summary: Screening for familial hypercholesterolemia (FH) in childhood is a controversial topic, with existing guidelines offering conflicting advice. Although there is general agreement on the evidence and areas where evidence is lacking, there is a limitation in existing evidence-based frameworks. FH is considered a tier 1 genetic condition, and incorporating concepts such as low-density lipoprotein cholesterol reduction and atherosclerosis regression can strengthen the evidence for pediatric screening for FH.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Trond P. Leren, Martin Proven Bogsrud
Summary: Patients with familial hypercholesterolemia (FH) are at a high risk of premature cardiovascular diseases, but there are effective lipid-lowering therapies available. It is important to diagnose these patients. Organizing cascade screening for FH at a national level and establishing a national registry and a genetics center for diagnosis can greatly improve the effectiveness of the screening program.
CURRENT OPINION IN LIPIDOLOGY
(2022)
Article
Genetics & Heredity
Ursa Sustar, Olga Kordonouri, Matej Mlinaric, Jernej Kovac, Stefan Arens, Katarina Sedej, Barbara Jenko Bizjan, Katarina Trebusak Podkrajsek, Thomas Danne, Tadej Battelino, Urh Groselj
Summary: This study assessed the performance of two different screening programs for diagnosing familial hypercholesterolemia (FH) in children and found that the opt-out screening strategy was more advantageous than the opt-in strategy, as it could effectively detect FH patients and their family members.
GENETICS IN MEDICINE
(2022)
Article
Hematology
Eythor Bjornsson, Gudmundur Thorgeirsson, Anna Helgadottir, Gudmar Thorleifsson, Gardar Sveinbjornsson, Snaedis Kristmundsdottir, Hakon Jonsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Thorarinn Gudnason, Isleifur Olafsson, Emil L. Sigurdsson, Olof Sigurdardottir, Brynjar Vidarsson, Magnus Baldvinsson, Ragnar Bjarnason, Ragnar Danielsen, Stefan E. Matthiasson, Bjorn L. Thorarinsson, Solveig Gretarsdottir, Valgerdur Steinthorsdottir, Bjarni Halldorsson, Karl Andersen, David O. Arnar, Ingileif Jonsdottir, Daniel F. Gudbjartsson, Hilma Holm, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
Summary: The study found that clinically defined familial hypercholesterolemia is a relatively common phenotype, but only a minority of cases are explained by monogenic FH. Both individuals with monogenic FH and individuals with mutation-negative clinical FH are markedly undertreated, with only a minority achieving the recommended LDL-C target levels.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Marina Cuchel, Paul C. Lee, Lisa C. Hudgins, P. Barton Duell, Zahid Ahmad, Seth J. Baum, MacRae F. Linton, Sarah D. de Ferranti, Christie M. Ballantyne, John A. Larry, Linda C. Hemphill, Iris Kindt, Samuel S. Gidding, Seth S. Martin, Patrick M. Moriarty, Paul P. Thompson, James A. Underberg, John R. Guyton, Rolf L. Andersen, David J. Whellan, Irwin Benuck, John P. Kane, Kelly Myers, William Howard, David Staszak, Allison Jamison, Mary C. Card, Mafalda Bourbon, Joana R. Chora, Daniel J. Rader, Joshua W. Knowles, Katherine Wilemon, Mary P. McGowan
Summary: This study investigated the diagnosis and treatment of HoFH in the United States and found a low diagnosis rate and low treatment rate, highlighting the need for enhanced screening and treatment to reduce the burden of the disease.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Laurens F. Reeskamp, Manon Balvers, Jorge Peter, Laura van de Kerkhof, Lisette N. Klaaijsen, Mahdi M. Motazacker, Aldo Grefhorst, Natal A. W. van Riel, G. Kees Hovingh, Joep C. Defesche, Linda Zuurbier
Summary: In this study, researchers investigated whether variants in intronic regions of LDLR contribute to familial hypercholesterolemia (FH) by affecting pre-mRNA splicing. They identified a deep intronic variant that was found to be causal for FH, indicating the importance of considering intronic regions in sequencing FH patients for accurate diagnosis and treatment.
Review
Genetics & Heredity
Wann Jia Loh, Dick C. Chan, Pedro Mata, Gerald F. Watts
Summary: This article discusses the incorporation of Lp(a) assessment into cascade testing for FH as a feasible and crucial part of FH care models. We also propose a simple management tool to help physicians identify and manage elevated Lp(a) in FH.
FRONTIERS IN GENETICS
(2022)
