Regression of Achilles tendon xanthomas evaluated by CT scan after hypolipidemic treatment with simvastatin. A case report
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Genovefa Kolovou1, Deliana Daskalova, Irene Mastorakou
11st Cardiology Department of the Onassis Cardiac Surgery Center, Athens, Greece. g_kolovou@yahoo.co.uk
Insights
Familial hypercholesterolemia (FH) diagnosis can be improved with computed tomography (CT) to detect Achilles tendon xanthomas (XAT). CT imaging also tracks XAT regression during lipid-lowering drug treatment, aiding cardiovascular risk assessment.
Area of Science:
- Cardiovascular Medicine
- Radiology
- Genetics
Background:
- Familial hypercholesterolemia (FH) is a common genetic disorder increasing cardiovascular death risk.
- Clinical diagnosis often relies on tendon xanthomas, but physical detection is subjective.
- Instrumental methods may offer more sensitive xanthoma evaluation.
Observation:
- This case study highlights computed tomography (CT) for detecting Achilles tendon xanthomas (XAT).
- CT visualized XAT in a patient with heterozygous FH.
- The study monitored XAT regression following hypolipidemic drug therapy.
Findings:
- Computed tomography (CT) effectively detects Achilles tendon xanthomas (XAT) in FH patients.
- CT imaging demonstrated regression of XAT with lipid-lowering treatment.
- XAT behavior may mirror vascular atherosclerotic lesion progression/regression.
Implications:
- CT offers an objective tool for FH diagnosis and monitoring XAT.
- This imaging technique can assess treatment efficacy in FH.
- Understanding XAT progression may provide insights into atherosclerosis.
Abstract:
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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