Sitosterol xanthomatosis.
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.


CONCLUSIONS
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.
Guirado
S S S
SS
Department of Dermatology, Hospital Universitario Virgen del Rocío, Seville, Spain.
Conejo-Mir
J S
JS
Muñoz
M A
MA
Wite
J B
JB
Fernandez-Freire
L R
LR
Ortíz
J V
JV
D001384:Azetidines / Q000627:therapeutic use*; D000069438:Ezetimibe; D005260:Female; D006801:Humans; D000960:Hypolipidemic Agents / Q000009:adverse effects*; D008875:Middle Aged; D012855:Sitosterols / Q000009:adverse effects*; D014973:Xanthomatosis / Q000139:chemically induced / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology
D001384:Azetidines; D000960:Hypolipidemic Agents; D012855:Sitosterols; C025473:gamma-sitosterol; D000069438:Ezetimibe