New cases of rare dyslipidemias in clinical practice
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Abstract
Lipid metabolism can experience different disorders resulting in changes in the function and concentrations of plasma lipoproteins. These changes affect alone or interact with other cardiovascular risk factors involved in the development of atherosclerosis. Therefore, dyslipidemias cover a wide spectrum of disorders lipids. Some of them have a genetic origin and very low prevalence. The main objective of this article is to report new cases of rare dislipemias of genetic origin in our population.
Genetic analysis was performed by Next Generation Sequencing (NGS) using a customized panel of 436 genes in DNA samples of four patients. The results confirmed the genetic origin of the following dyslipidemias: fish-eye disease, primary hypoalphalipoproteinemia-2, familial hypercholesterolemia by a variant in STAP1 and Sitosterolemia.
This approach allows us to confirm the genetic diagnosis of four patients with alterations in lipid metabolism, this will help to improve patient management, achieving early diagnosis in the study of family members.
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Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001 May 16;285(19):2486-97. doi: 10.1001/jama.285.19.2486. PMID: 11368702.
Nelson RH. Hyperlipidemia as a risk factor for cardiovascular disease. Prim Care. 2013 Mar;40(1):195-211. doi: 10.1016/j.pop.2012.11.003. Epub 2012 Dec 4. PMID: 23402469; PMCID: PMC3572442.
Adhyaru BB, Jacobson TA. New Cholesterol Guidelines for the Management of Atherosclerotic Cardiovascular Disease Risk: A Comparison of the 2013 American College of Cardiology/American Heart Association Cholesterol Guidelines with the 2014 National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia. Endocrinol Metab Clin North Am. 2016 Mar;45(1):17-37. doi: 10.1016/j.ecl.2015.09.002. PMID: 26892995.
Authors/Task Force Members; ESC Committee for Practice Guidelines (CPG); ESC National Cardiac Societies. 2019 ESC/EAS guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk. Atherosclerosis. 2019 Nov;290:140-205. doi: 10.1016/j.atherosclerosis.2019.08.014. Epub 2019 Aug 31. Erratum in: Atherosclerosis. 2020 Jan;292:160-162. Erratum in: Atherosclerosis. 2020 Feb;294:80-82. PMID: 31591002.
Santamarina Fojo S, Hoeg JM, Assmann G, Brewer HB. Lecithin Cholesterol Acyltransferase Deficiency and Fish Eye Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw Hill; 2001: 2817-2833.
von Eckardstein A. Differential diagnosis of familial high density lipoprotein deficiency syndromes. Atherosclerosis. 2006 Jun;186(2):231-9. doi: 10.1016/j.atherosclerosis.2005.10.033. Epub 2005 Dec 15. PMID: 16343506.
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013 Dec;34(45):3478-90a. doi: 10.1093/eurheartj/eht273. Epub 2013 Aug 15. Erratum in: Eur Heart J. 2020 Dec 14;41(47):4517. PMID: 23956253; PMCID: PMC3844152.
Fouchier SW, Dallinga-Thie GM, Meijers JC, Zelcer N, Kastelein JJ, Defesche JC, Hovingh GK. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res. 2014 Aug 29;115(6):552-5. doi: 10.1161/CIRCRESAHA.115.304660. Epub 2014 Jul 17. PMID: 25035151.
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. PMID: 27535533; PMCID: PMC5018207.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868; PMCID: PMC4544753.
Hansel B, Carrié A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E. Premature atherosclerosis is not systematic in phytosterolemic patients: severe hypercholesterolemia as a confounding factor in five subjects. Atherosclerosis. 2014 May;234(1):162-8. doi: 10.1016/j.atherosclerosis.2014.02.030. Epub 2014 Mar 11. PMID: 24657386.
Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000 Dec 1;290(5497):1771-5. doi: 10.1126/science.290.5497.1771. PMID: 11099417.
Heimerl S, Langmann T, Moehle C, Mauerer R, Dean M, Beil FU, von Bergmann K, Schmitz G. Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. Hum Mutat. 2002 Aug;20(2):151. doi: 10.1002/humu.9047. PMID: 12124998.
Steyrer E, Haubenwallner S, Hörl G, Giessauf W, Kostner GM, Zechner R. A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT ) gene results in an Arg140 to His substitution and causes LCAT -deficiency. Hum Genet. 1995 Jul;96(1):105-9. doi: 10.1007/BF00214196. PMID: 7607641.
Nakata K, Kobayashi K, Yanagi H, Shimakura Y, Tsuchiya S, Arinami T, Hamaguchi H. Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. Biochem Biophys Res Commun. 1993 Oct 29;196(2):950-5. doi: 10.1006/bbrc.1993.2341. PMID: 8240372.
Danyel M, Ott CE, Grenkowitz T, Salewsky B, Hicks AA, Fuchsberger C, Steinhagen-Thiessen E, Bobbert T, Kassner U, Demuth I. Evaluation of the role of STAP1 in Familial Hypercholesterolemia. Sci Rep. 2019 Aug 19;9(1):11995. doi: 10.1038/s41598-019-48402-y. PMID: 31427613; PMCID: PMC6700100.
Lamiquiz-Moneo I, Restrepo-Córdoba MA, Mateo-Gallego R, Bea AM, Del Pino Alberiche-Ruano M, García-Pavía P, Cenarro A, Martín C, Civeira F, Sánchez-Hernández RM. Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. Atherosclerosis. 2020 Jan;292:143-151. doi: 10.1016/j.atherosclerosis.2019.11.025. Epub 2019 Nov 29. PMID: 31809983.
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212. PMID: 12754702.