A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening-Reference-Cited by-同舟云学术

A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening

Published:2024-08-01 Issue:15 Volume:63 Page:2137-2142
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Minamizuka Takuya¹,Kobayashi Junji¹,Tada Hayato²,Koshizaka Masaya¹,Maezawa Yoshiro¹,Ono Hiraku¹,Yokote Koutaro¹

Affiliation:

1. Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, Japan

2. Graduate School of Medicine, Kanazawa University Cardiovascular Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/63/15/63_2726-23/_pdf

Reference20 articles.

1. 1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The Metabolic and Molecular Bases of Inherited Disease. 8th. Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. McGraw-Hill, Inc., New York, 2001: 2863-2913.

2. 2. Mabuchi H, Nohara A, Noguchi T, et al. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis 214: 404-407, 2011.

3. 3. Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolemia 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 34: 3478-3490a, 2013.

4. 4. Hori M, Ohta N, Takahashi A, et al. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis 289: 101-108, 2019.

5. 5. Hori M, Takahashi A, Son C, Ogura M, Harada-Shiba M. The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580G>A: p. (Arg3527Gln). J Clin Lipidol 14: 482-486, 2020.

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