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/10.1177/000331970405500314 | DOI Listing |
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
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.
View Article and Find Full Text PDFJ Clin Lipidol
August 2024
Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey (Drs Tekes).
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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