Xanthomas: clinical and pathophysiological relations

Area of Science:

• Dermatology
• Cardiology
• Metabolic Disorders

Background:

• Xanthomas are skin lesions composed of foam cells, derived from macrophages that have excessively taken up and modified low-density lipoprotein (LDL) particles.
• These lesions occur in connective tissues like skin, tendons, and fasciae.

Purpose of the Study:

• To highlight the diagnostic significance of xanthomas in identifying various dyslipidemias.
• To emphasize the association between different types of xanthomas and specific lipid disorders and associated health risks.

Main Methods:

• Review of clinical presentations of various xanthoma types.
• Correlation of xanthoma types with underlying dyslipidemias and health risks based on recent prospective studies.

Main Results:

• Xanthelasma palpebrarum, the most common form, is linked to increased cardiovascular risk, independent of traditional risk factors.
• Tendinous xanthomas indicate autosomal dominant hypercholesterolemia and a significantly higher risk of cardiovascular disease.
• Eruptive xanthomas signal severe hypertriglyceridemia, increasing risks for acute pancreatitis and type 2 diabetes.
• Other xanthoma types are associated with specific conditions like cerebrotendinous xanthomatosis, familial β-sitosterolemia, primary dysbetalipoproteinemia, paraproteinemia, and lymphoproliferative disorders.

Conclusions:

• Clinical recognition of xanthomas is crucial for diagnosing and managing dyslipidemias.
• Xanthelasma palpebrarum signifies an elevated risk for atherothrombotic disease.
• Further research is needed to fully elucidate the pathogenesis of xanthomas.