Electronic ISSN 2287-0237

VOLUME

FAMILIAL HYPERCHOLESTEROLEMIA: USE OF REGISTRIES, BIOBANKS, AND COHORT STUDIES TO IMPROVE ITS DIAGNOSIS AND MANAGEMENT IN NON-WESTERN POPULATIONS

FEBRUARY 2018 - VOL.14 | REVIEWS ARTICLE

Familial hypercholesterolemia (FH) is the most common monogenic disorder in humans,with an estimated prevalence of 1:200-1:250, based on unbiased genetic screening inWestern populations. The vast majority of FH can be explained by mutations in three keygenes; LDLR (receptor not synthesized or not functional), APOB (ligand not properlyrecognizing LDLR), and PCSK9 (gain of function mutations causing excessive eliminationof LDLR). Causal mutations in these genes lead to lifelong elevations in low-densitylipoprotein-cholesterol, xanthomatosis, and premature atherosclerotic cardiovasculardisease. Several large scale patient registries have proliferated around the world andprovide real-world data on prevalence and current treatment patterns. In this way, theyhave highlighted major gaps in the identification, treatment, and follow-up of patients withFH. Regrettably, these registries reveal a consistent and sobering message - patients withFH either remain undiagnosed or receive delayed diagnosis, there are low rates of LDL-Cgoal attainment even with combination lipid-lowering therapy, and rates of atheroscleroticcardiovascular disease are remarkably higher than the general population. Currently, thereare well-developed FH registries in the Netherlands, United Kingdom, Spain, France,Norway, Brazil, Canada, and the United States. Notably absent from this list is theentirety of the Asian continent. As collaborating U.S. investigators who have clinical andresearch experience with FH and FH registries, we encourage the clinical research leadershipof Thailand to design and launch a national FH Registry and genetic biorepository. Besidesserving as a tool to advance the science of FH, particularly as it relates to the Thaipopulation, this effort will undoubtedly raise awareness and lead to more efficient diagnosisand treatment, the true role of a registry. The opportunity for Thailand is enormous.

Keywords :

FH, clinical registry, low-density lipoprotein, atherosclerotic cardiovasculardisease, genetic testing, cascade screening, cholesterol, coronary disease

Address Correspondence to author

Michael D. Shapiro, MDOregon Health & Science UniversityKnight Cardiovascular Institute – UHN62Center for Preventive Cardiology

3181 SW Sam Jackson Park Rd.,Portland, OR 97239

email: shapirmi@ohsu.edu

Received: January 18, 2018
Revision received: January 19, 2018
Accepted after revision: February 2, 2018
BKK Med J 2018;14(1):63-68.

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