What are xanthomata and xanthelasma?

Xanthomata and Xanthelasma: Clinical Features and Management

Xanthomata and xanthelasma are benign accumulations of lipids, primarily cholesterol, that appear as yellowish deposits in the skin and can indicate underlying metabolic disorders or increased cardiovascular risk.

What Are Xanthomata and Xanthelasma?

Xanthelasma

• Most common form of cutaneous xanthoma, appearing as yellowish plaques around the eyelids, particularly near the inner canthus of the upper lid 1
• Seen in 20-30% of patients with certain systemic conditions like Erdheim-Chester disease 1
• Can occur as isolated yellowish-brown papules or plaques on the face, neck, axilla, trunk, or groin 1
• Results from perivascular infiltration of foam cells containing lipid-laden cytoplasmic vacuoles in the superficial reticular dermis 2

Xanthomata

• Broader term for cholesterol deposits that can appear in various locations
• May present as:
  • Eruptive xanthomata on extensor surfaces of extremities and buttocks (associated with severe hypertriglyceridemia >1,000 mg/dL) 1
  • Tuberous xanthomata
  • Tendinous xanthomata (particularly Achilles tendon)
  • Palmar xanthomata 1

Associated Conditions

Xanthomata and xanthelasma are often associated with:

1. Hyperlipidemia disorders:

   • Familial hypercholesterolemia 1
   • Dysbetalipoproteinemia (type III hyperlipoproteinemia) 1
   • Severe hypertriglyceridemia 1

2. Systemic diseases:

   • Erdheim-Chester disease (ECD) - xanthelasma is the most common cutaneous manifestation 1
   • Diabetes mellitus 2
   • Thyroid dysfunction 2

3. Cardiovascular risk:

   • Presence of xanthelasma is associated with increased cardiovascular risk 3
   • About one-third of affected patients have elevated serum cholesterol levels 4

Diagnosis

Diagnosis is primarily clinical based on:

• Characteristic yellowish plaques or papules
• Location (eyelids for xanthelasma, other sites for different xanthomata)
• Associated lipid abnormalities

Important diagnostic considerations:

• Lipid profile testing (total cholesterol, LDL, HDL, triglycerides)
• Screening for associated conditions (diabetes, thyroid function)
• In cases with multiple xanthomata or unusual presentations, consider evaluation for rare disorders like Erdheim-Chester disease 1

Treatment Options

Medical Management

• Lipid-lowering therapy:
  • Statins and ezetimibe are first-line treatments for underlying hyperlipidemia but often don't resolve existing xanthelasma 3
  • PCSK9 inhibitors (alirocumab) have shown success in resolving xanthelasma in some cases of familial hypercholesterolemia 3
  • Treatment of underlying metabolic disorders is essential

Procedural/Surgical Options

• Surgical excision:

  • Most appropriate for lesions involving deep dermis and/or muscle 5
  • Simple excision effective for grade I and II lesions 5
  • Local flaps or skin grafts may be needed for more extensive lesions 5
  • Recurrence rate approximately 3% after surgical excision 5

• Other modalities:

  • Cryotherapy
  • Chemical peeling with trichloroacetic acid
  • Radiofrequency ablation
  • Laser therapy 2

Prognosis and Complications

• Surgical excision is successful in more than half of first-time patients 4
• Higher recurrence risk factors:
  • All four eyelids involved
  • Underlying hyperlipidemia syndrome
  • Previous recurrences 4
• Potential complications of treatment:
  • Scar contracture (4.2% after surgery) 5
  • Cicatricial ectropion reported with certain topical treatments 6

Special Considerations

• Xanthelasma may be the first sign of underlying metabolic disorders
• In patients with xanthelasma but normal lipid profiles, consider other causes
• For cosmetically concerning lesions, surgical excision offers the most definitive treatment with lowest recurrence rates 5
• Caution with over-the-counter treatments, which may cause complications like ectropion 6

Follow-up Recommendations

• Regular monitoring of lipid profiles
• Cardiovascular risk assessment
• Evaluation for recurrence after treatment
• Screening for associated conditions if not previously identified

For patients with xanthelasma, thorough evaluation of cardiovascular risk factors and metabolic disorders is essential, as these lesions may be the first visible sign of underlying disease requiring treatment.