[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities].

Abstract

The phenomena of thrombocytopenia/ stomatocyte/splenomegaly represents a special clinical manifestations of phytosterolemia, and distinct changes of blood cell morphology are the typical characters. Plasma plant sterols and ABCG5/ABCG8 genes should be analyzed when such hematologic abnormalities are unexplained.