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

Area of Science:

• Hematology
• Clinical Biochemistry
• Genetics

Background:

• Phytosterolemia is a rare genetic disorder characterized by the accumulation of plant sterols in the body.
• Hematological abnormalities are often observed in patients with phytosterolemia, but their specific features and diagnostic significance are not fully understood.

Purpose of the Study:

• To investigate the clinical and laboratory features of phytosterolemia, focusing on hematological abnormalities.
• To identify diagnostic markers for phytosterolemia, particularly in cases with unexplained blood count changes.

Main Methods:

• Retrospective study of 20 phytosterolemia patients.
• Analysis of patient history, platelet counts, plasma lipidomics, erythrocyte osmotic fragility, and blood cell morphology.
• Sequencing of ABCG5/ABCG8 genes to identify mutations.

Main Results:

• Patients were misdiagnosed for an average of 21 years, often presenting with thrombocytopenia, anemia, splenomegaly, and xanthomas.
• Unique blood film findings included large platelets with vacuoles and abnormal erythrocyte shapes (stomatocytes).
• Elevated serum levels of sitosterol and stigmasterol were observed, along with various mutations in ABCG5/ABCG8 genes.

Conclusions:

• Thrombocytopenia, stomatocytosis, and splenomegaly are characteristic clinical manifestations of phytosterolemia.
• Distinct changes in blood cell morphology are typical diagnostic features.
• Plasma plant sterol analysis and ABCG5/ABCG8 gene sequencing are recommended for unexplained hematological abnormalities.