以血小板减少为首发临床表现的植物固醇血症1例并文献复习

Phytosterolemia with thrombocytopenia as the first clinical manifestation:a case report and literature review

植物固醇血症(phytosterolemia)又名β-谷固醇血症(β-sitosterolemia),是一种罕见的常染色体隐性遗传性脂质代谢性疾病。因ABCG5和ABCG8基因发生纯合突变或复合杂合突变,大量的植物固醇堆积在血液中。临床表现异质性高,多数患者往往表现出皮肤和肌腱的黄色瘤,动脉粥样硬化,早发型冠心病,关节炎等;少部分患者以血液系统异常为首发症状,可伴有溶血性贫血、口形红细胞增多、血小板减少、巨大血小板、脾脏肿大.

Phytosterolemia known as β-sitosterolemia is a rare autosomal recessive lipid storage disease,which is caused by mutations of ABCG5 and ABCG8 genes.Its clinical manifestations are extremely heterogeneous,result in a high misdiagnosis rate.The common clinical manifestations are tendinous and cutaneous xanthomas,arthritis,premature cardiovascular disease and atherosclerosis.Patients with hematologic abnormalities as the first clinical manifestation are rare.We reported a 53-year-old female patient with thrombocytopenia as the first clinical manifestation.Large platelets,spherocytes and stomatocytes were found on the peripheral blood smear.The homozygous variants were detected in exon 6(c.G788 A) of ABCG8 by next generation sequencing.We discuss the clinical manifestations,pathogenesis and treatment of this disease.For patients with unexplained hemolytic anemia,macrothrombocytopenia and splenomegaly,the possibility of this disease should be considered.