Result of Genetic Analysis in FH Case
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Published:
Sep 20, 2018
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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
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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 Apr. 18];14(2):129. Available from: https://he02.tci-thaijo.org/index.php/bkkmedj/article/view/222576
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Letter to The Editor
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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.
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.