HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA - DETECTION OF XANTHOMAS IN THE ACHILLES-TENDON WITH US

Prospective sonographic evaluation of 44 Achilles tendons in 22 patien ts with heterozygous familial hypercholesterolemia (FH) was performed with linear-array transducers with high frequency and high resolution. Intratendinous hypoechoic regions believed to represent xanthomas, ra nging from single hypoechoic nodules to diffusely enlarged tendons tha t were heterogeneously hypoechoic, were seen in 40 of the 44 tendons ( 91%) and 21 of the 22 patients (95%). In addition, focal xanthomas wer e seen in two of three patients whose Achilles tendons were either nor mal or questionably abnormal at palpation. The direct visualization of xanthomas in most of these patients contrasts with findings from prev iously published studies, in which sonographically detected involvemen t was based on secondary tendon enlargement alone. The improved sonogr aphic visualization of tendon xanthomas in FH, rather than the seconda ry tendon enlargement caused by them, therefore, suggests a new role f or ultrasound in the early diagnosis and follow-up of these cases.