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A Protocol to Acquire the Degenerative Tenocyte from Humans

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Published on: June 9, 2018

Tendon xanthomas: Not always familial hypercholesterolemia.

Charlotte Koopal¹, Frank L J Visseren¹, A David Marais²

¹Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands.

Journal of Clinical Lipidology

|September 29, 2016

Summary

Tendon xanthomas can indicate cerebrotendinous xanthomatosis (CTX), a rare genetic disorder. Early diagnosis and treatment with bile acid supplementation and statins can improve outcomes for CTX patients.

Keywords:

CYP27A1 mutation Case report Cerebrotendinous xanthomatosis Differential diagnosis Familial hypercholesterolemia Genetics Pathophysiology Tendon xanthoma

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Area of Science:

Genetics
Metabolic Disorders
Biochemistry

Background:

Tendon xanthomas are typically linked to Familial Hypercholesterolemia.
Differential diagnoses include sitosterolemia and cerebrotendinous xanthomatosis (CTX).

Observation:

A 48-year-old male presented with large tendon xanthomas.
The xanthomas were attributed to CTX, a rare autosomal recessive disorder.

Findings:

CTX results from mutations in the CYP27A1 gene, impairing bile acid synthesis.
This leads to cholestanol deposition in tissues, including tendons, and is associated with neurological symptoms and reduced lifespan.

Implications:

When evaluating tendon xanthomas, CTX should be considered if Familial Hypercholesterolemia is excluded.
Treatment involves bile acid supplementation and statins, potentially improving patient prognosis.