Multitendon xanthomatosis in a normo-cholesterolemic patient

Area of Science:

• Medical imaging
• Metabolic disorders
• Dermatology

Background:

• Xanthomatosis, characterized by lipid deposits, typically links to familial hypercholesterolemia or cerebrotendinous xanthomatosis.
• Tendon xanthomas necessitate comprehensive metabolic and family history assessments.
• Rare instances of xanthomatosis occur without identifiable dysmetabolic states.

Observation:

• A 38-year-old male presented with multisite xanthomatosis.
• The patient exhibited no familial history of hyperlipidemia or xanthomatosis.
• He maintained normal serum cholesterol levels, indicating a normocholesterolemic state.

Findings:

• The case highlights a rare presentation of xanthomatosis in an individual without typical risk factors.
• Characteristic magnetic resonance (MR) imaging findings were observed.
• Literature review supports the rarity of this condition in normocholesterolemic individuals.

Implications:

• Clinicians should consider investigating underlying metabolic derangements even in normocholesterolemic patients with xanthomas.
• This case expands the understanding of xanthomatosis presentations.
• MR imaging plays a crucial role in diagnosing and characterizing xanthomatosis.