J Korean Soc Radiol.  2014 Sep;71(3):146-149. 10.3348/jksr.2014.71.3.146.

Multiple Xanthomas in a Patient with Familial Hypercholesterolemia: A Case Report

• Park M
• Yang I
• Cho HS

• KMID: 1736481
• DOI: http://doi.org/10.3348/jksr.2014.71.3.146

Abstract

Tendinous xanthomas are often associated with type 2 hyperlipoproteinemia, in which low-density lipoprotein derived from the circulation accumulates in the tendons. Therefore, the demonstration of tendinous xanthomas is helpful in diagnosing familial hypercholesterolemia (FH). In this study, we describe the sonographic and MR features of the case of bilateral multiple xanthomas of the ankles and elbows in a 52-year-old female patient with FH.

MeSH Terms

Ankle
Elbow
Female
Humans
Hyperlipoproteinemia Type II*
Hyperlipoproteinemias
Lipoproteins
Magnetic Resonance Imaging
Middle Aged
Tendons
Ultrasonography
Xanthomatosis*
Lipoproteins

Figure

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  Fig. 1 Lateral radiograph of right ankle (A) and left elbow (B) show soft tissue mass at the posterior aspect (arrows). No bone or joint abnormality is shown. Left ankle and right elbow demonstrated same radiographic finding.

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  Fig. 2 A 52-year-old woman who presented with multiple soft tissue lesions in both ankles. A-C. Longitudinal (A) and transverse (B, C) ultrasound images show slightly heterogeneous stippled appearance of soft tissue masses along the anterior tibialis (A), peroneal (B), and Achilles (C) tendons. Posterior tibialis revealed similar sonographic finding.

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  Fig. 3 A 52-year-old woman demonstrated soft tissue lesions also in both elbows. A, B. Gray scale (A) and color Doppler ultrasound image at triceps tendon (B) show soft tissue mass with mild degree increased vascularity.

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  Fig. 4 A 52-year-old woman who presented with multiple soft tissue lesions in both ankles. A. Sagittal T1-weighted MR image shows fusiform enlargement of the Achilles tendon (arrows) and of the tibialis anterior tendon (arrowheads). Note numerous trabeculated areas of low signal representing remnant collagen fascicles (curved arrows). B. Axial T2-weighted MR image of the ankle reveals enlargement of the tibialis anterior (arrow), peroneus longus (arrowhead), flexor hallucis longus (curved arrow), and Achilles tendon (*) with abnormal heterogeneous signal intensity.

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  Fig. 5 A 52-year-old woman who underwent open biopsy of triceps tendon lesion. A, B. Gross image (A) and photomicrograph (hematoxylin and eosin, × 10) (B) of the tendinous xanhoma in triceps tendon. The cut surface is homogenously brightly yellow. On histopathology, it is characterized by lipid laden foam cells with large areas of cholesterol clefts, consistent with tendinous xanthoma.

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