Objective: Pain of Achilles tendon (AT) is a common symptom in patients with severe familial hypercholesterolemia (FH) and often associated with AT xanthomas. It is unknown if these changes are potentially reversible during lipid lowering treatment. LDL-apheresis (LA) represents the most effective lipid lowering regimen. Aim of this investigation was to determine clinical and ultrasonographic reduction of AT xanthomas in patients with severe FH undergoing regular LA.
Methods: At baseline, patient history of 22 patients with FH undergoing LA was obtained and their 44 ATs were evaluated clinically and with ultrasound for the presence of xanthomas. Three years later, both examinations of ATs could be repeated at follow-up visits in 16 patients. AT thickness and changes in echo structure were assessed at both points of time and compared to each other as well as to a healthy control group (n = 21). ROC analysis was performed to identify the optimal cut-off in AT thickness between healthy and affected ATs.
Results: Twelve of 22 FH patients suffered from AT pain at least once during their life-time. At baseline, AT thickness was significantly increased compared to the healthy control group (mean sagittal diameter 10.1 +/- 3.6 mm). At follow-up, AT thickness was significantly reduced to 8.2 +/- 3.3 mm (mean) under LA, whereas changes in echo structure were less distinct between both visits. Conversely, in the control group, mean AT thickness was 5.2 +/- 0.6 mm. The optimal cut-off between healthy and affected ATs was determined to be 6mm.
Conclusions: Ultrasonographic changes of the AT (thickening and changes in echo structure) are frequent in patients with severe FH, even if xanthomas are not clinically evident. LA treatment has the capability to reduce AT xanthomas and thickness. Ultrasound may give information about diagnosis and follow-up of AT affection in patients with FH.