Sonographic detection of xanthomas in normal-sized Achilles' tendons of individuals with heterozygous familial hypercholesterolemia.

Abstract

The objective of this study was to evaluate how well high-frequency linear array sonography reveals xanthomas in the Achilles' tendons of individuals with heterozygous familial hypercholesterolemia before the xanthomas enlarge the tendons enough to become palpable. Both Achilles' tendons of 23 individuals (18 female and five male; age range, 16-69 years old) who had heterozygous familial hypercholesterolemia but no clinically apparent Achilles' tendon xanthomas were studied with high-frequency linear array sonography. Hypoechoic areas, consistent with xanthomas, were noted. Xanthomas were revealed in 36 (78%) of 46 tendons and 19 (83%) of 23 individuals. Sonography reveals Achilles' tendon xanthomas in many individuals with heterozygous familial hypercholesterolemia before the xanthomas are clinically apparent. Because tendon xanthomas in a hypercholesterolemic individual are essentially pathognomonic of heterozygous familial hypercholesterolemia and are a mainstay in its diagnosis, our study suggests that sonography is useful in the early diagnosis of heterozygous familial hypercholesterolemia.