Result of Genetic Analysis in FH Case

Main Article Content

Gumpanart Veerakul, MD
Chanin Limwongse, MD, ABIM, ABMG
Michael D. Shapiro, MD, FACC
Sergio Fazio, MD, PhD, FAHA
ertlak Chaothawee, MD
Narucha Chaishotiranant, MD

Abstract

In the last issue of Bangkok Med J 2018, Vol. 14(1): page 57-62, we reported an aborted sudden coronary death in a veryyoung man, age of 29 years.1 Although he had no other atherosclerotic risk factors, severe hypercholesterolemia was noted withLDL cholesterol of 186 mg/dl, tendinous xanthoma and family history of dyslipidemia, suggestive of an inherited condition.By clinical criteria, he was diagnosed with familial hypercholesterolemia (FH).2-4

Article Details

How to Cite
1.
Veerakul G, Limwongse C, Shapiro MD, Fazio S, Chaothawee ertlak, Chaishotiranant N. Result of Genetic Analysis in FH Case. BKK Med J [Internet]. 2018 Sep. 20 [cited 2024 Dec. 22];14(2):129. Available from: https://he02.tci-thaijo.org/index.php/bkkmedj/article/view/222576
Section
Letter to The Editor

References

1. Veerakul G, Shapiro M, Fazio S et al. Aborted Sudden Cardiac Death in Young Man with Familial Hypercholesterolemia: A CaseReport and Review of The Literature. BKK Med J 2018; 14(1):57-62.
2. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familialhypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
3. Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004;173:55-68.
4. Shapiro M, Fazio S. Familial Hypercholesterolemia: Use of Registries, Biobanks, and Cohort Studies To Improve its Diagnosisand Management in Non-Western Populations. Bangkok Med J 2018; 14(1):63-8.
5. Garcia CK, Wilund K, Arca M et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptoradaptor protein. Science 2001;292(5520):1394-8.
6. Austin MA, Hutter CM, Zimmern RL, et al. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGEprevalence review. Am J Epidemiol 2004;160:407-20.
7. Mak YT, Pang CP, Tomlinson B et al. Mutations in the Low-Density Lipoprotein Receptor Gene in Chinese Familial HypercholesterolemiaPatients. Arterioscler Thromb Vasc Biol 1998;18: 1600-5.
8. Livy A, Lye SH. Familial hypercholesterolemia in Asia: A Review. OMIC Res 2011;1:22-31.
9. Jeenduang N, Ruangpracha A, Promptmas C, et al. Two novel D151Y and M391T LDLR mutations causing LDLR transport defectsin Thai patients with familial hypercholes- terolemia. Clin Chim Acta 2010;411:1656-61.
10. The UniProt Consortium. UniProt: the universal protein knowledge base. Nucleic Acids Res. 2017;45:D158-D169.