Familial hypercholesterolemia (FH) is a relatively common autosomal monogenic disease with dominant inheritance and threefold to fourfold increase in relative risk of cardiovascular death in untreated patients. For a "definitive" clinical diagnosis of FH the Simon Broome Register proposes the presence of tendon xanthomas as a key feature. However, detection of tendon xanthomas by physical examination is subjective and difficult to use for follow-up purposes. Several instrumental methods have been reported to be more sensitive than physical examination for the evaluation of xanthomas. The present case illustrates the usefulness of computed tomography (CT) to detect xanthomas in the Achilles tendons (XAT) and their regression in response to hypolipidemic drug treatment in a heterozygous FH patient. As XAT are atherosclerotic plaque-like depositions of lipids it is likely that their progression or regression follows the behavior of vascular atherosclerotic lesions.

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http://dx.doi.org/10.1177/000331970405500314DOI Listing

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Article Synopsis
  • CTX (cerebrotendinous xanthomatosis) is a rare genetic lipid storage disease that can be difficult to diagnose due to its varied symptoms, often leading to confusion with other conditions like hereditary spastic paraplegia (HSP).
  • A case study of a 53-year-old woman showed a 25-year history of spastic paraparesis and, after years of undiagnosed progression, she was finally diagnosed with CTX through genetic testing revealing a variant in the CYP27A1 gene.
  • The patient's treatment included chenodeoxycholic acid, which stabilized her condition, but the advanced state of her disease limited improvement, highlighting the need for thorough investigation and awareness of CTX
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Soft tissue mass resembling myxochondroid metaplasia in Achilles tendon.

Skeletal Radiol

December 2024

Department of Radiology, University of Pittsburgh, UPMC Montefiore, 200 Lothrop Street, Pittsburgh, PA, NE 538.3, 15213, USA.

The Achilles tendon is the strongest and largest tendon in the human body, composed of the distal confluence of the gastrocnemius and soleus muscles and may also include the plantaris longus tendons. Despite its tremendous strength, it is frequently injured. Soft tissue tumors or tumor-like conditions of Achilles tendon are much less common in comparison to traumatic and infectious/inflammatory lesions.

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Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.

Materials And Methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis.

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