Can Achilles tendon xanthoma be distinguished from Achilles tendinopathy using Dixon method MRI? A cross-sectional exploratory study.

BACKGROUND: Familial hypercholesterolemia is a genetic condition characterized by life-long elevations of plasma low-density lipoprotein cholesterol. In addition to life-threatening cardiovascular complications, intratendinous cholesterol deposits (xanthomas) can lead to pain and tendon thickening, particularly in the Achilles. Clinical detection of xanthomas currently relies upon visual assessment and palpation, or ultrasound-based measures of tendon thickening or echotexture. Misdiagnosis of xanthoma can delay the commencement of potentially life-saving lipid-lowering therapy. Our primary purpose was to determine whether analysis of separated fat and water magnetic resonance images may be able to differentiate between xanthomatic and nonxanthomatic Achilles tendons through quantification of intratendinous fat content. The main hypothesis was that Achilles tendon xanthomas will demonstrate greater lipid content than Achilles tendinopathy or healthy control tendons. METHODS: Bilateral MRI scans of Achilles tendons from 30 participants (n = 10 Achilles tendon xanthoma, n = 10 Achilles overuse tendinopathy, n = 10 healthy controls) were analyzed for total lipid content using the Dixon method of fat and water signal separation. Secondary outcome measures included tendon water content, as well as ultrasound characterization of tendon tissue organization and thickness. RESULTS: Fat content was greater in Achilles tendon xanthomas compared to the tendinopathy (p < 0.0001) and control groups (p < 0.0001). Water content was also greater in Achilles tendon xanthomas compared to the tendinopathy (p < 0.0001) and control groups (p = 0.0002). Ultrasound tissue characterization revealed worse tissue organization in Achilles tendon xanthoma tendons compared to Achilles tendinopathy (p < 0.05) but demonstrated largely overlapping distributions. Achilles tendon xanthoma tendons were, on average, significantly thicker than the tendons of the other two groups (p < 0.01 and p < 0.001, respectively). CONCLUSION: MRI-derived measures of Achilles tendon fat content may be able to distinguish xanthomas from control and tendinopathic tissue. Dixon method MRI warrants further evaluation in an adequately powered study to develop and test clinically relevant diagnostic thresholds.

Diagnostic accuracy of ultrasound and MRI for Achilles tendon xanthoma in people with familial hypercholesterolemia: A systematic review.

BACKGROUND: Achilles tendon xanthoma (ATX) results from tendon thickening and subclinical inflammation triggered by hypercholesterolemia, and is associated with more severe coronary artery disease and a higher risk of cardiovascular events. The ability to detect ATX by clinical examination is limited, and diagnostic imaging, for instance, using ultrasonography or magnetic resonance imagine (MRI), may improve the identification of ATX. However, the accuracy of ultrasound (US) imaging or MRI in identifying ATX in people with familial hypercholesterolemia (FH) has not been systematically reviewed. OBJECTIVE: The objective of this study was to systematically review the accuracy of US imaging or MRI in diagnosing ATX in individuals with FH. METHODS: Searches in Medline, Embase, Cochrane Central, and Cochrane Database of Systematic Reviews on the Ovid platform from inception to April 15, 2018, were conducted to identify articles. Any study design that included US imaging or MRI of Achilles tendon xanthoma in people with FH, and that included a control group of non-FH participants with either normal or symptomatic Achilles tendons, was considered eligible. All of the included studies were reviewed according to the STAndards for the Reporting of Diagnostic accuracy (STARD) method. A qualitative synthesis of the included studies was undertaken. RESULTS: Fifteen studies with 699 patients with FH and 868 non-FH participants were included. Among the non-FH participants, 26 individuals had other documented Achilles tendon pathology (trauma or overuse). Evaluation with the STARD checklist suggested that the quality of evidence was low. US imaging and MRI may have acceptable sensitivity in detecting tendon thickening associated with ATX. There is a wide range in the suggested thickness thresholds and in the estimates of diagnostic accuracy. CONCLUSIONS: A small amount of low-quality evidence suggests that ultrasonography or MRI can improve clinicians' accuracy in identifying ATX in people with FH, thereby identifying those with more severe coronary artery disease.