Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

AC Sturm, JW Knowles, SS Gidding, ZS Ahmad… - Journal of the American …, 2018 - jacc.org
Although awareness of familial hypercholesterolemia (FH) is increasing, this common,
potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic …

Barriers and facilitators for cascade testing in genetic conditions: a systematic review

S Srinivasan, NY Won, WD Dotson, ST Wright… - European Journal of …, 2020 - nature.com
Cascade testing is the process of offering genetic counseling and testing to at-risk relatives
of an individual who has been diagnosed with a genetic condition. It is critical for increasing …

Therapeutic potential of herbal medicine for the management of hyperlipidemia: latest updates

A Rauf, M Akram, H Anwar, M Daniyal, N Munir… - … Science and Pollution …, 2022 - Springer
Hyperlipidemia, the most common form of dyslipidemia, is the main source of cardiovascular
disorders, characterized by elevated level of total cholesterol (TC), triglycerides (TG) and low …

Genetics, dyslipidemia, and cardiovascular disease: new insights

R Stein, F Ferrari, F Scolari - Current cardiology reports, 2019 - Springer
Abstract Purpose of Review The cardiovascular (CV) risk related to lipid disorders is well
established and is based on a robust body of evidence from well-designed randomized …

Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis

FJ Kinnear, E Wainwright, R Perry, FE Lithander… - BMJ open, 2019 - bmjopen.bmj.com
Objectives Individuals with heterozygous familial hypercholesterolaemia (FH) are at high
risk of developing cardiovascular disease (CVD). This risk can be substantially reduced with …

How can we reach at-risk relatives? Efforts to enhance communication and cascade testing uptake: a mini-review

R Schwiter, AK Rahm, JL Williams… - Current genetic medicine …, 2018 - Springer
Abstract Purpose of Review Cascade testing, or screening, is the process of stepwise,
systematic genetic testing of at-risk relatives for a genetic variant originally identified in a …

Healthcare utilization and patients' perspectives after receiving a positive genetic test for familial hypercholesterolemia: a pilot study

LK Jones, A Kulchak Rahm, K Manickam… - Circulation: Genomic …, 2018 - Am Heart Assoc
Background: The MyCode Community Health Initiative (MyCode) is returning actionable
results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited …

Improving the detection of familial hypercholesterolaemia

NSR Lan, AC Martin, T Brett, GF Watts, DA Bell - Pathology, 2019 - Elsevier
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder of low-density
lipoprotein (LDL) catabolism, which if untreated causes lifelong elevated LDL-cholesterol …

[HTML][HTML] Reducing premature coronary artery disease in Malaysia by early identification of familial hypercholesterolemia using the Familial Hypercholesterolemia …

AS Ramli, N Qureshi, H Abdul-Hamid… - JMIR Research …, 2023 - researchprotocols.org
Background: Familial hypercholesterolemia (FH) is predominantly caused by mutations in
the 4 FH candidate genes (FHCGs), namely, low-density lipoprotein receptor (LDLR) …

[HTML][HTML] Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study

KF Keenan, RM Finnie, WG Simpson, L McKee… - Journal of Community …, 2019 - Springer
Familial hypercholesterolemia (FH) is a serious inherited disorder, which greatly increases
individuals' risk of cardiovascular disease (CVD) in adult life. However, medical treatment …