Multiple tendon xanthomas in patient with heterozygous familial hypercholesterolaemia: sonographic and MRI findings

Abstract

Tendon xanthomas are a component of familial hypercholesterolaemia, which is a hereditary disease and characterised by elevated low-density lipo protein cholesterol plasma levels and premature coronary artery disease. Tendon xanthomas are diagnostic for heterozygous familial hypercholesterolaemia (HFH) and they mostly occur in Achilles tendon. Sonography and MRI are superior to clinical assessment and are useful in detecting tendon xanthomas. In this report, we present ultrasonographic and MRI findings of multiple tendon xanthomas in a case of HFH.

Multiple tuberous and tendinous xanthomas diagnosed on fine‐needle aspiration cytology—report of a rare case

“…Studies have shown that the most frequent site for xanthomas in these patients is the Achilles tendon . Other sites can include the extensor tendons of the hands and feet, as the extensor tendon areas are subject to mechanical stress …”

Multiple large xanthomas: A case report

“…Xanthomas have been indicated to commonly occur in patients with FH (1). A previous study has shown that the most frequent site for xanthomas is the Achilles tendon (11). Other frequent sites include the extensor tendons of the hands and feet, as the extensor tendon areas are subject to mechanical stress (11).…”

“…A previous study has shown that the most frequent site for xanthomas is the Achilles tendon (11). Other frequent sites include the extensor tendons of the hands and feet, as the extensor tendon areas are subject to mechanical stress (11). The mechanical stress encountered in tendons is similar to recurrent trauma, which is thought to predispose these sites to the development of xanthomas (12).…”

“…On an MRI scan, xanthomas exhibit morphological and signal intensity abnormalities. In the presence of a xanthoma, the normally flat or concave margins of tendons or other normal tissues may change and appear convex on axial MR images (11). Furthermore, tendons with xanthomas tend to a have increased signal intensity on T1- and T2-weighted spin-echo images compared with normal tendons (19).…”

Multiple Tuberous Xanthomas: A Diagnostic Dilemma on Cytology

“…[3,7] A previous study has shown that the most frequent site for xanthomas is the Achilles' tendon. [8] Xanthomas consist of cholesterol, cholesterol esters, triglycerides, phospholipids and numerous lipid-laden foamy macrophages. [9] case, the patient had lesions at similar sites.…”