Studies using knock-out mouse models have successfully shown that Ezetimibe treatment can correct multiple symptoms, including reduction of large platelets and restoration of the platelet count to some extent, caused by pathogenic variants in ABCG5/8; similarly, clinical trials also show improvement in patients with sitosterolemia after Ezetimibe therapy (Salen et al., 2004; Lutjohann et al., 2008; Tsubakio-Yamamoto et al., 2010; Hu and Tomlinson, 2014; Othman et al., 2015). Here, ABCG5 is linked to sitosterolemia.