Endoscopic resection of tendon xanthoma in the elbow of a patient with cerebrotendinous xanthomatosis

We describe the case of a 44-year-old woman with cerebrotendinous xanthomatosis (CTX) who had a tendon xanthoma on the right olecranon. The patient successfully underwent endoscopic resection. There were no signs of recurrence on MRI 2 years postoperatively. There were no complications related to the surgery, and the patient is completely satisfied with the treatment outcomes. CTX, a genetic metabolic disorder, is associated with the development of tendon xanthomas. Endoscopic resection of tendon xanthoma in the elbow of patients with CTX is a less invasive method than open resection.

A Rare Case of Bilateral Achilles Tendon Xanthomas in a Teenager, Successfully Treated with Tendon Sparing Technique

Background. Xanthoma of the Achilles tendon, even though being benign, is a surgically challenging orthopaedic condition. Causality is believed to be due to a pathological error in the metabolism of low-density lipoprotein and their resultant accumulation, as foam cells within the tendon. Tendon xanthomas are often found to accompany heterozygous familial hypercholesterolemia. Case Presentation. A 19-year-old girl presented to our institution (a District General Hospital), with soft tissue lumps over posterior aspect of the ankle on both sides for several years. She had noticed a rapid increase in size in recent 3 months and sought medical advice. During investigation, she was diagnosed having bilateral Achilles tendon xanthomas clinically, confirmed by ultrasound scan and magnetic resonance imaging, and familial hypercholesterolemia concomitantly. The former was managed with intralesion subtotal resection where the histology further confirmed the diagnosis. The patient was commenced on statins and followed up while assessing the functional outcome and recurrences up to 2 years, with favourable results. Conclusion. Subtotal resection of Achilles tendon xanthoma (tendon sparingly) offers cosmetically and functionally acceptable outcomes, with faster recovery and no recurrences over 2 years.

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.

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. The patient was the first child of consanguineous marriage. She had bilateral cataracts and developmental delay. Laboratory findings revealed that the plasma cholestanol level was remarkably elevated, and plasma and urine bile alcohol levels were elevated. MRI of ankles showed a bilateral diffuse thickening of the Achilles tendon with hypointense in T1 and heterogeneous hypersignal in T2 with spots in hypersignal in T1 and T2. Brain MRI revealed bilateral and symmetrical T2 hypersignal of dentate nuclei, without white matter signal alterations or cerebral or cerebellar atrophy. A biopsy obtained of the Achilles swelling with a histological study showed an aspect of tendon xanthoma. Hence, the diagnosis of CTX was made. MRI, especially brain MRI, plays an important role in the diagnosis of CTX.