Su Shun-Qing, Xiong Di-Sheng, Ding Xiu-Mei, Kuang Jin-An, Lin Yue-Chun
Department of Burn and Plast, Dalang Hospital of Dongguan, Dongguan, China.
Front Cardiovasc Med. 2022 Aug 16;9:927267. doi: 10.3389/fcvm.2022.927267. eCollection 2022.
Sitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is characterized by increased levels and accumulation of sitosterol in the plasma and local tissues.
The study subjects were two siblings (brother and sister) who had sitosterolemia with systemic multiple xanthomas as the main manifestation. The main clinical manifestations were hypercholesterolemia, premature atherosclerosis, arrhythmia, systemic multiple xanthomas, etc. After genetic testing, it was found that the patients had a compound heterozygous mutation of c.1324+1de1G in exon 7 and exon 9 of chromosome 2p21 of the adenosine triphosphate binding cassette transporter G family member gene; the mutation at c.904+1G>A was of maternal origin, and the mutation at c. 1324+1de1G was of paternal origin. The compound heterozygous mutation of these two genes led to a metabolic disorder of plant sterols .
Sitosterolemia is an autosomal recessive disease that could be effectively controlled after dietary control and oral lipid-lowering therapy with Ezetimibe. Xanthomas, which affects function and appearance, could be surgically removed, and primary wound healing could be achieved.
谷甾醇血症是一种罕见的高脂血症隐性遗传异常疾病；其特征是血浆和局部组织中谷甾醇水平升高并蓄积。
研究对象为两名患有谷甾醇血症且以全身性多发黄色瘤为主要表现的同胞兄妹。主要临床表现为高胆固醇血症、过早动脉粥样硬化、心律失常、全身性多发黄色瘤等。基因检测发现，患者在三磷酸腺苷结合盒转运体G家族成员基因2号染色体p21区域的第7外显子和第9外显子存在c.1324+1de1G复合杂合突变；c.904+1G>A突变来自母亲，c.1324+1de1G突变来自父亲。这两个基因的复合杂合突变导致植物甾醇代谢紊乱。
谷甾醇血症是一种常染色体隐性疾病，通过饮食控制和口服依折麦布降脂治疗后可得到有效控制。影响功能和外观的黄色瘤可通过手术切除，并实现一期伤口愈合。
