Ultraschall Med 2013; 34 - WS_SL16_01
DOI: 10.1055/s-0033-1354900

Achilles Tendon Ultrasound in Familial Hypercholesterolemia – Diagnostic, prognostic and physiopathologic meaning

F Simoni 1, A Calabrò 1, N Vitturi 2, M Carlon 1, L Previato 1
  • 1University of Padova, Clinica Medica 1, Padova, Italy
  • 2University of Padova, Divisione Malattie del Metabolismo, Padova, Italy

Purpose: Our study was aimed to evaluate the usefulness of tendon ultrasound to clarify the meaning of tendon xanthomas (TX) in familial hypercholesterolemia (FH). TX are nodules or diffuse enlargements of tendons, particularly Achilles tendons, almost pathognomonic of FH. TX are however clinically detectable only in 30% of patients. In FH the presence of tendon complications would seem to parallel vascular involvement, and clinical detection of TX apparently identifies a group of particularly high risk subjects. Ultrasound is able to evaluate in very accurate way the vascular districts and Achilles tendons, offers an opportunity to better understand the diagnostic, prognostic and pathological meaning of TX in FH.

Material and methods: 43 patients (among which 22 FH) underwent Achilles tendon ultrasound and carotid and femoral artery vascular ultrasound.

Results: The Achilles tendons of FH subjects where thicker than the other groups (5.6 vs. 8.4 mm). There was a high prevalence of ultrasound-detected TX in FH whose physical exam was normal (62.5%). We identified a sensible (72.7%) and specific (85.7%) ultrasound diagnostic criterion for FH. FH subjects had higher intima-media-thickness (IMT) and higher prevalence of atherosclerotic plaques both in carotid and femoral arteries. Only in FH there was a correlation between carotid IMT and Achilles tendon thickness. FH subjects with premature atherosclerosis had a higher prevalence of clinically detectable TX (40.0 vs. 23.5%) and a higher tendon thickness (11.2 vs. 7.4 mm) but a similar prevalence of ultrasound detectable TX.

Conclusion: Ultrasound of Achilles tendon facilitates substantially the diagnosis of FH. Ultrasound reveals that minor tendon alterations affect the majority of FH patients. Data suggest that the tendon thickness rather than mere presence of TX is related to cardiovascular risk, this is supported also by the finding of a correlation between ATT and IMT which was unique to FH subjects.