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. 2023 May 1;30(5):558-586.
doi: 10.5551/jat.CR005. Epub 2023 Jan 21.

Guidelines for the Diagnosis and Treatment of Adult Familial Hypercholesterolemia 2022

Mariko Harada-Shiba  1   2 , Hidenori Arai  3 , Hirotoshi Ohmura  4 , Hiroaki Okazaki  5 , Daisuke Sugiyama  6 , Hayato Tada  7 , Kazushige Dobashi  8 , Kota Matsuki  9 , Tetsuo Minamino  10 , Shizuya Yamashita  11 , Koutaro Yokote  12
Affiliations

Guidelines for the Diagnosis and Treatment of Adult Familial Hypercholesterolemia 2022

Mariko Harada-Shiba et al. J Atheroscler Thromb. .
No abstract available

Keywords: Adults; Diagnostic criteria; Familial Hypercholesterolemia; Heterozygote; Homozygote; LDL apheresis; Lifestyle; Pharmacological therapy; Statins; Treatment guidelines.

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Conflict of interest statement

The following discloses the conflicts of interest of the members of the Working Group of the Japan Atherosclerosis Society for the Development of Guidelines for the Treatment of Adult Familial Hypercholesterolemia for the years 2017 - 2021.

Figures

Fig.1.
Fig.1.
Combination of genetic mutation showing HoFH clinically
Fig.2.
Fig.2.
Total cholesterol levels in normal, heterozygous, and homozygous individuals in a family with familial hypercholesterolemia (Modified from Ref. 47 by adding cases)
Fig.3.
Fig.3.
Cumulative number of myocardial infarction cases in HeFH (Cases were added to Ref. 35 and the display format was modified.)
Fig.4.
Fig.4.
Coronary CT plaque score in HeFH (modified from Ref. 52)
Fig.5. Xanthoma in HoFH
Fig.5. Xanthoma in HoFH
Skin and tuberous xanthomas in a 22‐year‐old man (A) Finger tuberous xanthomas, (B) Xanthoma planum on the elbows, (C) Xanthoma planum on the knees, (D) Xanthoma planum on the buttocks. (E, F) Skin xanthomas in a 3‐year‐old boy
Fig.6.
Fig.6.
Corneal ring in patients with FH
Fig.7.
Fig.7.
Achilles tendon thickening in a patient with FH
Fig.8. Achilles tendon radiography in patients with FH
Fig.8. Achilles tendon radiography in patients with FH
(A) Achilles tendon in a 40‐year‐old man (maximum thickness: 22 mm), (B) Achilles tendon in a 29‐year‐old man (maximum thickness: 19 mm).
Fig.9. Achilles tendon echo in FH (long-axis cross-sectional image)
Fig.9. Achilles tendon echo in FH (long-axis cross-sectional image)
Reprinted from Standardized Assessment of Achilles Tendon Thickness Measurement by Ultrasound for Screening Adult Familial Hypercholesterolemia 2018, Japan Atherosclerosis Society and the Japan Society of Ultrasonics in Medicine
Fig.10.
Fig.10.
Flowchart of FH diagnosis in adults (15 years and older)
Fig.11.
Fig.11.
Supravalvular aortic stenosis in HoFH
Fig.12.
Fig.12.
Flowchart of HeFH treatment in adults (15 years and older)
Fig.13.
Fig.13.
Flowchart of HoFH treatment in adults (15 years and older)
See this image and copyright information in PMC

References

    1. Tada H, Hori M, Matsuki K, Ogura M, Nohara A, Kawashiri MA, Harada-Shiba M: Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene. J Atheroscler Thromb, 2022; 29: 816-824 - PMC - PubMed
    1. Harada-Shiba M, Ohtake A, Sugiyama D, Tada H, Dobashi K, Matsuki K, Minamino T, Yamashita S, Yamamoto Y: Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022. J Atheroscler Thromb, 2023; 30: 531-557 - PMC - PubMed
    1. Mabuchi H, Nohara A, Noguchi T, Kobayashi J, Kawashiri MA, Tada H, Nakanishi C, Mori M, Yamagishi M, Inazu A, Koizumi J: Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis, 2011; 214: 404-407 - PubMed
    1. Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, Tu JV: Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open, 2017; 7: e016461 - PMC - PubMed
    1. Beheshti SO, Madsen CM, Varbo A, Nordestgaard BG: Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects. J Am Coll Cardiol, 2020; 75: 2553-2566 - PubMed

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