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Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care

Authors Alonso R, Perez de Isla L, Muñiz-Grijalvo O, Mata P

Received 5 November 2019

Accepted for publication 28 December 2019

Published 9 January 2020 Volume 2020:16 Pages 11—25


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Daniel Duprez

Rodrigo Alonso,1,2 Leopoldo Perez de Isla,3 Ovidio Muñiz-Grijalvo,4 Pedro Mata2

1Department of Nutrition, Clínica Las Condes, Santiago, Chile; 2Fundación Hipercolesterolemia Familiar, Madrid, Spain; 3Department of Cardiology, Hospital San Carlos, Madrid, Spain; 4Internal Medicine Department, Hospital Virgen del Rocío, Sevilla, Spain

Correspondence: Pedro Mata
Fundación Hipercolesterolemia Familiar, Gral Alvarez De Castro 14, 1-E, Madrid 28010, Spain
Tel +34 915042206
Email [email protected]

Abstract: Familial hypercholesterolemia (FH) is a frequent disorder associated with premature atherosclerotic cardiovascular disease. Different clinical diagnosis criteria are available, and cost of genetic testing has been reduced in the last years; however, most cases are not diagnosed worldwide. Patients with FH are at high cardiovascular risk and the risk can be reduced with lifelong lifestyle and pharmacological treatment. Statins and ezetimibe are available as generic drugs in most countries reducing the cost of treatment. However, the use of high-intensity statins combined with ezetimibe and PCSK9 inhibitors, if necessary, is low for different reasons that contribute to a high number of patients not reaching LDL-C targets according to guidelines. On the other hand, cardiovascular risk varies greatly in families with FH; therefore, risk stratification strategies including cardiovascular imaging is another element to consider for improving care and management of FH. There are numerous barriers depending on the awareness, knowledge, perception of risk, management and care of patients living with FH that impact in the diagnosis and treatment of the disorder. In this contemporary review, we analyze different barriers in the diagnosis and care of patients to improve patients’ care and prevention of atherosclerotic cardiovascular disease and describe recent advances and strategies to improve the gaps in the care of FH, including global collaboration and advocacy.

Keywords: familial hypercholesterolemia, statins, early detection, iPCSK9, genetic testing, screening strategies, cardiovascular risk

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