Lipoprotein apheresis: current recommendations for treating familial hypercholesterolemia and elevated lipoprotein (a)

MS Safarova, PM Moriarty - Current Atherosclerosis Reports, 2023 - Springer
Abstract Purpose of Review Familial hypercholesterolemia (FH) and hyperlipoproteinemia
(a) are relatively common disorders, posing a significant health burden due to increased risk …

New case detection by cascade testing in familial hypercholesterolemia: a systematic review of the literature

C Lee, M Rivera-Valerio, H Bangash… - Circulation: Genomic …, 2019 - Am Heart Assoc
Background: The prevalence of familial hypercholesterolemia is 1 in 250, but< 10% of
patients are diagnosed. Cascade testing enables early detection of cases through …

Rapid identification of familial hypercholesterolemia from electronic health records: the SEARCH study

MS Safarova, H Liu, IJ Kullo - Journal of clinical lipidology, 2016 - Elsevier
Background Little is known about prevalence, awareness, and control of familial
hypercholesterolemia (FH) in the United States. Objective To address these knowledge …

Precision cardiovascular medicine: state of genetic testing

JR Giudicessi, IJ Kullo, MJ Ackerman - Mayo Clinic Proceedings, 2017 - Elsevier
In the 15 years following the release of the first complete human genome sequences, our
understanding of rare and common genetic variation as determinants of cardiovascular …

[HTML][HTML] Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysis

CL Jackson, T Huschka, B Borah, K Agre… - American Journal of …, 2021 - Elsevier
Objective There is no coordinated cascade testing program for familial hypercholesterolemia
(FH) in the US We evaluated the contemporary cost-effectiveness of cascade genetic testing …

Familial hypercholesterolemia in the electronic medical records and genomics network: prevalence, penetrance, cardiovascular risk, and outcomes after return of …

O Dikilitas, A Sherafati, S Saadatagah… - Circulation: Genomic …, 2023 - Am Heart Assoc
Background: The implications of secondary findings detected in large-scale sequencing
projects remain uncertain. We assessed prevalence and penetrance of pathogenic familial …

Familial hypercholesterolemia (FH) registry worldwide: A systematic review

A Amerizadeh, SH Javanmard, N Sarrafzadegan… - Current Problems in …, 2022 - Elsevier
Familial hypercholesterolemia (FH) is the most common genetic disease which accelerates
the development of premature coronary artery disease (CAD) in young adults if remains …

The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic genomic medicine implementation study: design and initial results

IJ Kullo, J Olson, X Fan, M Jose, M Safarova… - Mayo Clinic …, 2018 - Elsevier
Objectives To identify clinically actionable genetic variants from targeted sequencing of 68
disease-related genes, estimate their penetrance, and assess the impact of disclosing …

Development and characterization of nano-emulsions and nano-emulgels for transdermal delivery of statins

MN Sithole, S Marais, SM Maree… - Expert opinion on …, 2021 - Taylor & Francis
Background Oral administration of statins for the treatment of familial hypercholesterolemia
results in poor therapeutic outcomes and patient compliance. An alternative administration …

Effect of clinical decision support for severe hypercholesterolemia on low-density lipoprotein cholesterol levels

H Bangash, S Saadatagah, M Naderian… - npj Digital …, 2024 - nature.com
Severe hypercholesterolemia/possible familial hypercholesterolemia (FH) is relatively
common but underdiagnosed and undertreated. We investigated whether implementing …