Impact of Achilles tendon on diagnosis and phenotypes of familial hypercholesterolemia.

Purpose of review: Achilles tendon thickness is one of the most specific physical findings of familial hypercholesterolemia (FH), and thus it is used as one of the clinical diagnostic criteria. However, the objective assessment using imaging has not been used for a long time. We review the recent topic of this matter and discuss how this important assessment should be implemented in clinical settings.

Recent findings: Achilles tendon thickness assessed via X-ray or ultrasound can be used not only for diagnostic criteria but also as a useful biomarker for risk stratification. In addition, relying upon physical examination alone to detect the presence of tendon xanthoma may lead to underdiagnosis of FH.

Summary: The use of noninvasive imaging, such as X-ray or ultrasound appears to be quite useful for FH diagnosis as well as risk stratification. These objective assessments are currently adopted by a clinical guideline only in Japan; however, much attention should be paid to specific situation in FH around the world.