A reassessment of the Japanese clinical diagnostic criteria of familial hypercholesterolemia in a hospital-based cohort using comprehensive genetic analysis.
Achilles tendon thickness
Familial hypercholesterolemia
Low-density lipoprotein receptor
Proprotein convertase subtilisin/kexin type 9
Journal
Practical laboratory medicine
ISSN: 2352-5517
Titre abrégé: Pract Lab Med
Pays: Netherlands
ID NLM: 101690848
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
02
03
2020
accepted:
15
10
2020
entrez:
2
11
2020
pubmed:
3
11
2020
medline:
3
11
2020
Statut:
epublish
Résumé
Clinical diagnostic criteria of familial hypercholesterolemia (FH) in Japan include LDL cholesterol ≥ 180 mg/dL, Achilles tendon thickness ≥ 9.0 mm, and family history. However, few data exist regarding its validation. A series of 680 participants, with a mean LDL cholesterol of 175 mg/dL were enrolled at Kanazawa University Hospital between 2006 and 2018. All had full assessments of, LDL cholesterol, Achilles tendon X-rays, family history records, and genetic analysis of FH-associated genes ( The optimal cutoff values predicting the presence of an FH-associated mutation were 181 mg/dL for LDL cholesterol and ≥7.0 mm for Achilles tendon thickness. AUCs predicting FH mutations were 0.827 for Achilles tendon thickness ≥9.0 mm, 0.889 for LDL cholesterol ≥180 mg/dL, and 0.906 for family history. If Achilles tendon thickness ≥7.0 mm was used as a clinical criterion, then 41 participants (6%) were newly diagnosed with FH and 86 (12%) were newly misclassified as FH. Current clinical diagnostic criteria of FH were validated in this cohort. We recommend considering a tentative diagnosis of "potential FH" if the Achilles tendon thickness is ≥ 7.0 mm and <9.0 mm rather than dismissing a diagnosis of FH.
Sections du résumé
BACKGROUND
BACKGROUND
Clinical diagnostic criteria of familial hypercholesterolemia (FH) in Japan include LDL cholesterol ≥ 180 mg/dL, Achilles tendon thickness ≥ 9.0 mm, and family history. However, few data exist regarding its validation.
DESIGN AND METHODS
METHODS
A series of 680 participants, with a mean LDL cholesterol of 175 mg/dL were enrolled at Kanazawa University Hospital between 2006 and 2018. All had full assessments of, LDL cholesterol, Achilles tendon X-rays, family history records, and genetic analysis of FH-associated genes (
RESULTS
RESULTS
The optimal cutoff values predicting the presence of an FH-associated mutation were 181 mg/dL for LDL cholesterol and ≥7.0 mm for Achilles tendon thickness. AUCs predicting FH mutations were 0.827 for Achilles tendon thickness ≥9.0 mm, 0.889 for LDL cholesterol ≥180 mg/dL, and 0.906 for family history. If Achilles tendon thickness ≥7.0 mm was used as a clinical criterion, then 41 participants (6%) were newly diagnosed with FH and 86 (12%) were newly misclassified as FH.
CONCLUSIONS
CONCLUSIONS
Current clinical diagnostic criteria of FH were validated in this cohort. We recommend considering a tentative diagnosis of "potential FH" if the Achilles tendon thickness is ≥ 7.0 mm and <9.0 mm rather than dismissing a diagnosis of FH.
Identifiants
pubmed: 33134466
doi: 10.1016/j.plabm.2020.e00180
pii: S2352-5517(20)30143-8
pmc: PMC7585136
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e00180Informations de copyright
© 2020 The Author(s).
Déclaration de conflit d'intérêts
None.
Références
Atherosclerosis. 2007 Dec;195(2):339-47
pubmed: 17097660
Atherosclerosis. 2011 Feb;214(2):404-7
pubmed: 21146822
J Am Coll Cardiol. 2018 Aug 7;72(6):662-680
pubmed: 30071997
Eur Heart J. 2016 May 01;37(17):1384-94
pubmed: 26908947
Arterioscler Thromb Vasc Biol. 2007 Aug;27(8):1803-10
pubmed: 17569881
Circ J. 2017 Nov 24;81(12):1879-1885
pubmed: 28652530
J Atheroscler Thromb. 2017 Mar 1;24(3):189-207
pubmed: 28179607
N Engl J Med. 2016 Oct 27;375(17):1628-1637
pubmed: 27783906
Circ J. 2016;80(2):512-8
pubmed: 26632531
J Atheroscler Thromb. 2012;19(11):1019-26
pubmed: 23095241
Am J Cardiol. 1993 Jul 15;72(2):171-6
pubmed: 8328379
Eur Heart J. 2013 Dec;34(45):3478-90a
pubmed: 23956253
J Atheroscler Thromb. 2018 Aug 1;25(8):751-770
pubmed: 29877295
Lancet. 2013 Apr 13;381(9874):1293-301
pubmed: 23433573
BMJ. 1991 Oct 12;303(6807):893-6
pubmed: 1933004
Am J Epidemiol. 2004 Sep 1;160(5):407-20
pubmed: 15321837
Circulation. 2016 Mar 15;133(11):1067-72
pubmed: 26976914
JIMD Rep. 2015;21:115-22
pubmed: 25665839
J Clin Lipidol. 2018 Nov - Dec;12(6):1436-1444
pubmed: 30241732
Atherosclerosis. 1977 Sep;28(1):61-8
pubmed: 911369