Sitosterolemia

[MIM 210 250]

(Phytosterolemia)

Very rare. Mutation in the ABCG8 (type 1) or ABCG5 (type 2)  (2p21) gene. These mutations allow a complete digestive absorption of cholesterol and sterols of vegetal origin. The result is high cholesterol level, increased blood levels of vegetal sterols, periarticular tendinous or tuberous xanthomas, and a risk of early atheromatosis. Macrothrombocytopenia and hemolytic anemia with stomatocytosis (phytosterol toxicity) are sometimes associated.

In Australia, this disease is sometimes referred to as "macrothrombocytopenia or stomatocytosis of Mediterranean origin."


Treatment: diet, simvastatin.


Anesthetic implications: 

total blood count; blood platelets transfusion if bleeding, avoid NSAID's.


References : 

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018 ; 31 : 160-7.


Updated: December 2020