Result of Genetic Analysis in FH Case

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


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


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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 2022 Aug. 16];14(2):129. Available from:
Letter to The Editor


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.
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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.
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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.

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