https://orcid.org/0000-0002-8007-3909
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Author Contributions
JMB & JR wrote the manuscripts. All authors critically reviewed the paper.
Main Findings
Sitosterolemia is a rare disease, which heterogeneous landscape of symptoms at presentation, mainly, xanthomas and cardiovascular disease.
Macrothrombocytopenia and stomatocytes in the peripheral blood smear is a clue to suspect this disorder.
The disease is caused by molecular pathology affecting ABCG5 and ABCG8 genes. Up to 80 causative variants have been reported, with no apparent genotype-phenotype correlation in this disorder.
Declaration of Interest
The authors declare no conflict of interest.
Additional information
Funding
This work was partially supported by grants from Instituto de Salud Carlos III [ISCIII& Feder, PI17/01966, PI17/01311, and CB15/00055], Gerencia Regional de Salud [GRS 2061A/19 and 1647/A/17], Fundación Séneca [19873/GERM/15], Fundación Mutua Madrileña [FMM, AP172142019] and Premio López Borrasca (SETH 2019). The authors research in Inherited Platelet Disorders is conducted according to the aims of the Project “Functional and Molecular Characterization of Patients with Inherited Platelet Disorders” supported by the Hemorrhagic Diathesis Working Group of the Spanish Society of Thrombosis and Haemostasis.