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Journal articles on the topic 'Homozygous Familial Hypercholesterolemia'

Author: Grafiati

Published: 9 March 2023

Last updated: 19 July 2025

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1

Wierzbicki, Anthony S. "Homozygous familial hypercholesterolemia." Clinical Lipidology 8, no. 4 (2013): 407–9. http://dx.doi.org/10.2217/clp.13.37.

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2

Parihar, RaviKumar, Ghanshyam Saini, and Mohd. Razaq. "Homozygous familial hypercholesterolemia." Indian Journal of Endocrinology and Metabolism 16, no. 4 (2012): 643. http://dx.doi.org/10.4103/2230-8210.98032.

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3

Genest, Jacques, and Marc-André Lavoie. "Homozygous Familial Hypercholesterolemia." New England Journal of Medicine 341, no. 7 (1999): 490. http://dx.doi.org/10.1056/nejm199908123410705.

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4

Bajaj, Archna, and Marina Cuchel. "Homozygous familial hypercholesterolemia." Current Opinion in Lipidology 31, no. 3 (2020): 119–24. http://dx.doi.org/10.1097/mol.0000000000000677.

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5

Raal, Frederick J. "Homozygous Familial Hypercholesterolemia." JACC: Advances 2, no. 3 (2023): 100324. http://dx.doi.org/10.1016/j.jacadv.2023.100324.

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6

Manappallil, RobinGeorge, Ashokan Nambiar, VG Pradeep Kumar, and Avinash Sarpamale. "Homozygous familial hypercholesterolemia with valvulopathy." Journal of Clinical and Preventive Cardiology 8, no. 1 (2019): 34. http://dx.doi.org/10.4103/jcpc.jcpc_26_18.

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7

Brown, L., I. Ruel, A. Bélanger, et al. "HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IN CANADA." Canadian Journal of Cardiology 37, no. 10 (2021): S23. http://dx.doi.org/10.1016/j.cjca.2021.07.056.

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8

Brown, L., I. Ruel, I. Iatan, et al. "HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IN CANADA." Canadian Journal of Cardiology 38, no. 10 (2022): S121—S122. http://dx.doi.org/10.1016/j.cjca.2022.08.043.

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9

Sperlongano, Simona, Felice Gragnano, Francesco Natale, et al. "Lomitapide in homozygous familial hypercholesterolemia." Journal of Cardiovascular Medicine 19, no. 3 (2018): 83–90. http://dx.doi.org/10.2459/jcm.0000000000000620.

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10

France, Michael, Jonathan Schofield, See Kwok, and Handrean Soran. "Treatment of homozygous familial hypercholesterolemia." Clinical Lipidology 9, no. 1 (2014): 101–18. http://dx.doi.org/10.2217/clp.13.79.

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11

Hill, Suvimol C., Jeffrey M. Hoeg, and Nilo A. Avila. "Nephrocalcinosis in Homozygous Familial Hypercholesterolemia." Journal of Computer Assisted Tomography 15, no. 1 (1991): 101–3. http://dx.doi.org/10.1097/00004728-199101000-00015.

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12

Raal, Frederick J., Robert S. Rosenson, Laurens F. Reeskamp, et al. "Evinacumab for Homozygous Familial Hypercholesterolemia." New England Journal of Medicine 383, no. 8 (2020): 711–20. http://dx.doi.org/10.1056/nejmoa2004215.

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13

Di Taranto, M. D., C. Giacobbe, A. Morrone, et al. "Homozygous Familial Hypercholesterolemia in Campania." Nutrition, Metabolism and Cardiovascular Diseases 27, no. 1 (2017): e20. http://dx.doi.org/10.1016/j.numecd.2016.11.053.

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14

Santos, Raul D. "Homozygous familial hypercholesterolemia: phenotype rules!" Atherosclerosis 248 (May 2016): 252–54. http://dx.doi.org/10.1016/j.atherosclerosis.2016.03.015.

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15

Sánchez-Hernández, Rosa M., Fernando Civeira, Marianne Stef, et al. "Homozygous Familial Hypercholesterolemia in Spain." Circulation: Cardiovascular Genetics 9, no. 6 (2016): 504–10. http://dx.doi.org/10.1161/circgenetics.116.001545.

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16

Marais, A. D., D. J. Blom, and J. C. Firth. "Statins in homozygous familial hypercholesterolemia." Current Atherosclerosis Reports 4, no. 1 (2002): 19–25. http://dx.doi.org/10.1007/s11883-002-0058-7.

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17

Cegla, Jaimini, Shahenaz Walji, Lucy Barton, Clare Neuwirth, and Gilbert R. Thompson. "Treatment of Homozygous Familial Hypercholesterolemia." JACC: Advances 4, no. 5 (2025): 101708. https://doi.org/10.1016/j.jacadv.2025.101708.

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18

Proute, Matthew, Paige Seepaulsingh, Tanay Modi, et al. "Beyond homozygous familial hypercholesterolemia – emerging therapy for severe familial hypercholesterolemia phenotypes." Journal of Clinical Lipidology 19, no. 3 (2025): e77. https://doi.org/10.1016/j.jacl.2025.04.108.

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19

Riche, Daniel M., and Honey E. East. "Xanthomas Associated with Homozygous Familial Hypercholesterolemia." Pharmacotherapy 29, no. 12 (2009): 1496. http://dx.doi.org/10.1592/phco.29.12.1496.

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20

Gossios, Thomas, Ioanna Zografou, Veta Simoulidou, Athina Pirpassopoulou, Konstantinos Christou, and Asterios Karagiannis. "Multimodal Treatment of Homozygous Familial Hypercholesterolemia." Current Pharmaceutical Design 24, no. 31 (2019): 3616–21. http://dx.doi.org/10.2174/1381612824666181009095522.

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Background: Familial Hypercholesterolemia (FH) is an autosomal-dominant genetic disease, associated with premature atherosclerotic Cardiovascular Disease (CVD), especially in its homozygous type (HoFH). Objective: The aim of this review is to discuss the safety and efficacy of combination treatments (procedures and drugs) for HoFH. Results: Historically, liver transplantation was used first; however, it is currently considered only as a last resort for some patients. In the mid 70’s, LDL aphaeresis was introduced and remains up today the treatment of choice for patients of any age, despite its

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21

Меситская, Д. Ф., М. С. Балашова, Н. А. Жученко, and А. Е. Потапкина. "Clinical case of homozygous familial hypercholesterolemia." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 5(214) (May 29, 2020): 39–40. http://dx.doi.org/10.25557/2073-7998.2020.05.39-40.

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Описан клинический случай гомозиготной формы гиперхолестеринемии. У пациентки с признаками дисплазии соединительной ткани (переразгибание локтевых и коленных суставов), наличием ксантом на локтях обоих рук и на ахилловых сухожилиях, выявлено повышение общего холестерина до 15,36 ммоль/л. При таргетном секвенировании 14-ти генов, ответственных за гиперхолестеринемию выявлено 2 варианта в гене LDLR: с.1889G>C (p.S630T) и c.663_683dupCTGCAAGGACAAATCTGAGGA в компаунд-гетерозиготном состоянии. This report describes a clinical case of homozygous hypercholesterolemia. A patient with signs of conne

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22

Kawamura, Tomonori, Kenji Mogi, Yoshinori Enomoto, Manabu Sakurai, Kaoru Matsuura, and Yoshiharu Takahara. "Cardiac Surgery in Homozygous Familial Hypercholesterolemia." Japanese Journal of Cardiovascular Surgery 42, no. 4 (2013): 307–11. http://dx.doi.org/10.4326/jjcvs.42.307.

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23

Ishigaki, Yasushi, Naoki Kawagishi, Yutaka Hasegawa, et al. "Liver Transplantation for Homozygous Familial Hypercholesterolemia." Journal of Atherosclerosis and Thrombosis 26, no. 2 (2019): 121–27. http://dx.doi.org/10.5551/jat.rv17029.

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24

Moorthy, Nagaraja, Prabhavathi Bhat, ManjunathC Nanjappa, and Rajiv Ananthakrishna. "Xanthoma tuberosum in homozygous familial hypercholesterolemia." Annals of Pediatric Cardiology 7, no. 2 (2014): 118. http://dx.doi.org/10.4103/0974-2069.132479.

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25

Gaudet, Daniel, Daniel A. Gipe, Robert Pordy, et al. "ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia." New England Journal of Medicine 377, no. 3 (2017): 296–97. http://dx.doi.org/10.1056/nejmc1705994.

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26

Teruel, J. L., and M. A. Lasunción. "Cutaneous Xanthomas in Homozygous Familial Hypercholesterolemia." New England Journal of Medicine 332, no. 17 (1995): 1137. http://dx.doi.org/10.1056/nejm199504273321705.

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27

Marais, Adrian David, Jean Catherine Firth, and Dirk Jacobus Blom. "Homozygous Familial Hypercholesterolemia and Its Management." Seminars in Vascular Medicine 4, no. 01 (2004): 43–50. http://dx.doi.org/10.1055/s-2004-822985.

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28

Jones, Elizabeth, Irwin M. Feuerstein, Eben Tucker, Ronald M. Summers, Thomas L. Spray, and Jeffrey M. Hoeg. "Aortic Hypoplasia in Homozygous Familial Hypercholesterolemia." American Journal of Cardiology 81, no. 10 (1998): 1242–43. http://dx.doi.org/10.1016/s0002-9149(98)00114-3.

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29

Tully, Lisa, Arthur Schwartzbard, and James A. Underberg. "Contemporary Treatment of Homozygous Familial Hypercholesterolemia." Journal of Clinical Lipidology 8, no. 3 (2014): 330–31. http://dx.doi.org/10.1016/j.jacl.2014.02.057.

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30

Gidding, Samuel S. "Managing Patients With Homozygous Familial Hypercholesterolemia." Journal of the American College of Cardiology 70, no. 9 (2017): 1171–72. http://dx.doi.org/10.1016/j.jacc.2017.06.057.

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31

Thompson, Gilbert R. "Cardiac catheterization in homozygous familial hypercholesterolemia." Atherosclerosis 66, no. 1-2 (1987): 173. http://dx.doi.org/10.1016/0021-9150(87)90195-x.

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32

Kyselak, Ondrej, Tomas Freiberger, Jan Kovar, Lukas Tichy, and Vladimir Soska. "Atypical phenotype of homozygous familial hypercholesterolemia." Atherosclerosis 263 (August 2017): e224. http://dx.doi.org/10.1016/j.atherosclerosis.2017.06.732.

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33

Widhalm, Kurt, Ina Michel Benke, Michael Fritz, et al. "Homozygous familial hypercholesterolemia: Summarized case reports." Atherosclerosis 257 (February 2017): 86–89. http://dx.doi.org/10.1016/j.atherosclerosis.2017.01.002.

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34

Kraft, H. G., A. Lingenhel, F. J. Raal, M. Hohenegger, and G. Utermann. "Lipoprotein(a) in Homozygous Familial Hypercholesterolemia." Arteriosclerosis, Thrombosis, and Vascular Biology 20, no. 2 (2000): 522–28. http://dx.doi.org/10.1161/01.atv.20.2.522.

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35

Thompson, Gilbert R. "PCSK9 Inhibitors for Homozygous Familial Hypercholesterolemia." Journal of the American College of Cardiology 76, no. 2 (2020): 143–45. http://dx.doi.org/10.1016/j.jacc.2020.05.033.

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36

Toth, Peter P. "Evinacumab Therapy for Homozygous Familial Hypercholesterolemia." JACC: Advances 2, no. 9 (2023): 100646. http://dx.doi.org/10.1016/j.jacadv.2023.100646.

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37

Cesmat, Andrew, Jessica Willis, Ellina Max, and Ross J. Simpson. "PROLONGED SURVIVAL IN HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA." Journal of the American College of Cardiology 85, no. 12 (2025): 2891. https://doi.org/10.1016/s0735-1097(25)03375-3.

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38

Reeskamp, Laurens F., John S. Millar, Liya Wu, et al. "ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia—Brief Report." Arteriosclerosis, Thrombosis, and Vascular Biology 41, no. 5 (2021): 1753–59. http://dx.doi.org/10.1161/atvbaha.120.315204.

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Objective: The mechanism by which evinacumab, a fully human monoclonal antibody directed against ANGPTL3 (angiopoietin-like 3 protein) lowers plasma LDL (low-density lipoprotein) cholesterol levels in patients with homozygous familial hypercholesterolemia is unknown. We investigated apoB (apolipoprotein B) containing lipoprotein kinetic parameters in patients with homozygous familial hypercholesterolemia, before and after treatment with evinacumab. Approach and Results: Four patients with homozygous familial hypercholesterolemia underwent apoB kinetic analyses in 2 centers as part of a substud

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39

Tunçer, Eylem. "Coronary revascularization in a 13 year old patient with homozygous familial hypercholesterolemia." Turkish Journal of Thoracic and Cardiovascular Surgery 22, no. 1 (2014): 168–70. http://dx.doi.org/10.5606/tgkdc.dergisi.2014.8013.

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40

Reeskamp, Laurens F., Nick S. Nurmohamed, Michiel J. Bom, et al. "Marked plaque regression in homozygous familial hypercholesterolemia." Atherosclerosis 327 (June 2021): 13–17. http://dx.doi.org/10.1016/j.atherosclerosis.2021.04.014.

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41

Shotwell, Matthew K., Mounica Vorla, and Dinesh K. Kalra. "Very High Cholesterol Mimicking Homozygous Familial Hypercholesterolemia." Circulation 146, no. 15 (2022): 1182–88. http://dx.doi.org/10.1161/circulationaha.122.061578.

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42

Jeraj, Natasha, Shih-Han S. Huang, Brooke A. Kennedy, and Robert A. Hegele. "Treatment of Homozygous Familial Hypercholesterolemia With Evinacumab." CJC Open 4, no. 3 (2022): 347–49. http://dx.doi.org/10.1016/j.cjco.2021.11.009.

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43

Mastrolorenzo, Antonio, Antonietta D’Errico, Piera Pierotti, Margherita Vannucchi, Stefano Giannini, and Fiammetta Fossi. "Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia." World Journal of Dermatology 6, no. 4 (2017): 59–65. http://dx.doi.org/10.5314/wjd.v6.i4.59.

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44

Selvan, J. P., B. Uthaman, L. Abushaban, and R. Jebaraj. "Homozygous Familial Hypercholesterolemia with Generalized Arterial Disease." Medical Principles and Practice 16, no. 1 (2006): 75–78. http://dx.doi.org/10.1159/000096146.

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45

Gidding, Samuel S. "The complexities of homozygous familial hypercholesterolemia management." Pediatric Transplantation 20, no. 8 (2016): 1020–21. http://dx.doi.org/10.1111/petr.12812.

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46

Drogari, E., P. Progias, A. Skouma, M. Elisaf, and V. Mollaki. "MS52 HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (FH) IN GREECE." Atherosclerosis Supplements 11, no. 2 (2010): 120. http://dx.doi.org/10.1016/s1567-5688(10)70553-5.

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47

Banerjee, Ambuja, Latifah Alothman, Patrick Couture, et al. "The Lifelong Burden of Homozygous Familial Hypercholesterolemia." Canadian Journal of Cardiology 35, no. 10 (2019): 1419.e1–1419.e4. http://dx.doi.org/10.1016/j.cjca.2019.06.009.

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48

James, R. W., B. Martin, D. Pometta, et al. "Apolipoprotein B metabolism in homozygous familial hypercholesterolemia." Journal of Lipid Research 30, no. 2 (1989): 159–69. http://dx.doi.org/10.1016/s0022-2275(20)38378-4.

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49

Francis, G. A. "Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia." Canadian Medical Association Journal 172, no. 4 (2005): 495–97. http://dx.doi.org/10.1503/cmaj.1041152.

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50

Sánchez-Hernández, R. M., M. Stef, S. Perez-Calahorra, et al. "Characteristics of homozygous familial hypercholesterolemia in Spain." Atherosclerosis 252 (September 2016): e203. http://dx.doi.org/10.1016/j.atherosclerosis.2016.07.126.

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