Magnetic resonance imaging of Achilles tendon xanthomas in familial hypercholesterolemia

The demonstration of tendon xanthomas is helpful in diagnosing heterozygous familial hypercholesterolemia, but in many patients lipid may accumulate without clinical abnormality being present. We investigated the possibility of detecting the lipid element with magnetic resonance (MR) imaging in seven patients with familial hypercholesterolemia and six controls. Although the mean relative signal intensities measured on long TR/TE spin echo sequences of the tendon were significantly higher in patients than in controls, the lack of such elevation does not rule out the presence of such lesions. In vitro measurements indicated that the signal intensity of triglycerides was quenched by cholesterolesters. The anatomic findings of MR imaging were compared with those of ultrasonography (US), showing excellent correlation in measurements between MR images and US [r(S) = 0.95 and 0.97 respectively]. MR imaging and US provide equal information on the anatomy of the Achilles tendon; as an abnormally increased signal intensity within the xanthoma on MRI was found in only a minority of our patients, the value of MRI in the demonstration of Achilles tendon xanthomas is limited when using conventional T1 and T2 spin echo sequences.