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American Journal of Roentgenology, Vol 170, 621-625, Copyright © 1998 by American Roentgen Ray Society

ARTICLES

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

RO Bude, SD Nesbitt, RS Adler and M Rubenfire
Department of Radiology, University of Michigan Medical School, Taubman Center 2910K, Ann Arbor, MI 48109-0326, USA.

OBJECTIVE: 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. SUBJECTS AND METHODS: 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. RESULTS: Xanthomas were revealed in 36 (78%) of 46 tendons and 19 (83%) of 23 individuals. CONCLUSION: 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.
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Copyright © 1998 by the American Roentgen Ray Society.