Radiology, Vol 188, 567-571, Copyright © 1993 by Radiological Society of North America
Heterozygous familial hypercholesterolemia: detection of xanthomas in the Achilles tendon with US
RO Bude, RS Adler, DR Bassett, DM Ikeda and JM Rubin
Department of Radiology, University of Michigan Medical Center, Taubman Center, Ann Arbor 48109-0326.
Prospective sonographic evaluation of 44 Achilles tendons in 22 patients
with heterozygous familial hypercholesterolemia (FH) was performed with
linear-array transducers with high frequency and high resolution.
Intratendinous hypoechoic regions believed to represent xanthomas, ranging
from single hypoechoic nodules to diffusely enlarged tendons that were
heterogeneously hypoechoic, were seen in 40 of the 44 tendons (91%) and 21
of the 22 patients (95%). In addition, focal xanthomas were seen in two of
three patients whose Achilles tendons were either normal or questionably
abnormal at palpation. The direct visualization of xanthomas in most of
these patients contrasts with findings from previously published studies,
in which sonographically detected involvement was based on secondary tendon
enlargement alone. The improved sonographic visualization of tendon
xanthomas in FH, rather than the secondary tendon enlargement caused by
them, therefore, suggests a new role for ultrasound in the early diagnosis
and follow-up of these cases.
