Achilles Tendon Ultrasonography for Diagnosis of Familial Hypercholesterolemia Among Japanese Subjects

• Published in: Circulation Journal Vol. 81; no. 12; pp. 1879 - 1885
• Main Authors: Michikura, Masahito, Ogura, Masatsune, Yamamoto, Masahiro, Sekimoto, Masahiko, Fuke, Chizuru, Hori, Mika, Arai, Koji, Kihara, Shinji, Hosoda, Kiminori, Yanagi, Koji, Harada-Shiba, Mariko
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Circulation Society 2017
• Subjects: Achilles tendon; Achilles Tendon - diagnostic imaging; Adult; Aged; Asian People; Carotid intima-media thickness; Coronary artery disease; Familial hypercholesterolemia; Female; Humans; Hyperlipoproteinemia Type II - diagnosis; Male; Middle Aged; Sensitivity and Specificity; Ultrasonography; Ultrasonography - methods; Achilles tendon; Familial hypercholesterolemia; Coronary artery disease; Carotid intima-media thickness; Ultrasonography
• DOI: 10.1253/circj.CJ-17-0041
• ISSN: 1346-9843; 1347-4820

Background:Difficulty in detecting and measuring Achilles tendon (AT) xanthomas may be responsible for underdiagnosis of familial hypercholesterolemia (FH). We aimed to determine a cutoff value for AT thickness (AT-T) using ultrasonography to diagnose FH, and to investigate the relationship between AT-T and atherosclerosis.Methods and Results:Ultrasonographic AT-T and carotid intima-media thickness (IMT) were evaluated in 130 genetically diagnosed FH patients and 155 non-FH patients. The outline and internal properties of the AT could be clearly determined using ultrasonography, and a good correlation in AT-T was observed between ultrasonography and the conventional method of X-ray radiography (r=0.924, P<0.001). Cutoff values for the diagnosis of FH derived from receiver-operating curves were 5.8 mm (sensitivity 71%, specificity 78%) in men, and 5.5 mm (sensitivity 80%, specificity 81%) in women. Importantly, increased AT-T was positively associated with carotid IMT only in the FH group. Additionally, increased AT-T was associated with the presence of coronary artery disease in a logistic regression analysis adjusted for traditional cardiovascular risk factors.Conclusions:This is the first study to determine a cutoff value for AT-T based on ultrasonography for the diagnosis of FH in Japanese subjects. Clearer detection and easier measurement of AT-T using ultrasonography would encourage clinicians to diagnose FH more actively, and could solve the problem of underdiagnosis of FH.