Sitosterol xanthomatosis.

Abstract

BACKGROUND:

Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.

OBJECTIVE:

To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease.

METHODS:

We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate.

RESULTS:

Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment.

CONCLUSION:

It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.

• Authors: S S S Guirado, J S Conejo-Mir, M A Muñoz, J B Wite, L R Fernandez-Freire, J V Ortíz
• Journal: Journal of the European Academy of Dermatology and Venereology : JEADV (J Eur Acad Dermatol Venereol) Vol. 21 Issue 1 Pg. 100-3 (Jan 2007) ISSN: 0926-9959 [Print] England
• PMID: 17207176 (Publication Type: Case Reports, Journal Article)

Chemical References

• Azetidines
• Hypolipidemic Agents
• Sitosterols
• gamma-sitosterol
• Ezetimibe

Topics

• Azetidines (therapeutic use)
• Ezetimibe
• Female
• Humans
• Hypolipidemic Agents (adverse effects)
• Middle Aged
• Sitosterols (adverse effects)
• Xanthomatosis (chemically induced, diagnosis, drug therapy, pathology)