Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene
-
- Tada Hayato
- Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences
-
- Hori Mika
- Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University Department of Endocrinology, Nagoya University Graduate School of Medicine Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute
-
- Matsuki Kota
- Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
-
- Ogura Masatsune
- Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute
-
- Nohara Atsushi
- Department of Genetics, Ishikawa Prefectural Central Hospital
-
- Kawashiri Masa-aki
- Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences
-
- Harada-Shiba Mariko
- Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute
この論文をさがす
抄録
<p> Aim: The 2017 Japan Atherosclerosis Society (JAS) familial hypercholesterolemia (FH) criteria adopt a cut-off value of ≥ 9 mm of Achilles tendon thickness (ATT) detected by X-ray as one of the three key items. This threshold was determined based on an old data evaluating the ATT of 36 non-FH individuals that was published in 1977. Although the specificity of these clinical criteria is extremely high due to a strict threshold, there are a significant number of patients with FH whose ATT ＜9 mm. We aimed to determine a cut-off value of ATT detected by X-ray to differentiate FH and non-FH based on genetic diagnosis.</p><p>Methods: The individuals (male/female=486/501) with full assessments of genetic analyses for FH-genes (LDLR and PCSK9), serum lipids, and ATT detected by X-ray at the Kanazawa University Hospital and National Cerebral and Cardiovascular Center Research Institute were included in this study. Receiver operating characteristic (ROC) analyses were conducted to determine a better cut-off value of ATT that predicts the pathogenic mutation of FH.</p><p> Results: The ROC analyses revealed that the best cut-off values of ATT are 7.6 mm for male and 7.0 mm for female, with the sensitivities/specificities of 0.83/0.83 for male and 0.86/0.85 for female, respectively. If the thresholds of ATT of 8.0/7.5 mm and 7.5/7.0 mm were applied to the diagnosis of male/female FH, the sensitivities/specificities predicting the pathogenic mutation of FH by the 2017 JAS FH clinical criteria would be 0.82/0.90 and 0.85/0.88, respectively.</p><p>Conclusions: These results suggest that the cut-off value of ATT detected by X-ray is obviously lower than 9.0 mm, which was adopted by the 2017 JAS FH clinical criteria.</p>
収録刊行物
-
- Ｊｏｕｒｎａｌ ｏｆ Ａｔｈｅｒｏｓｃｌｅｒｏｓｉｓ ａｎｄ Ｔｈｒｏｍｂｏｓｉｓ
-
Ｊｏｕｒｎａｌ ｏｆ Ａｔｈｅｒｏｓｃｌｅｒｏｓｉｓ ａｎｄ Ｔｈｒｏｍｂｏｓｉｓ 29 (6), 816-824, 2022-06-01
一般社団法人 日本動脈硬化学会