BACKGROUND Phytosterolemia,also known as sitosterolemia,is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata,which is easily misdiagnosed as familial hypercholester...BACKGROUND Phytosterolemia,also known as sitosterolemia,is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata,which is easily misdiagnosed as familial hypercholesterolemia.Patients with homozygous phytosterolemia often have severe clinical manifestations,with xanthomata in childhood and premature atherosclerosis.Our patient had a milder clinical phenotype.CASE SUMMARY This report describes a patient with homozygous phytosterolemia who presented with only elevated cholesterol and low-density lipoprotein cholesterol(LDL-C)without xanthomata,arteriosclerosis,or hematological abnormalities.Homozygous mutation of ABCG5 which encodes an ATP-binding cassette transporter,was detected by whole exome sequencing and diagnosed as phytosterolemia.Measurement of the patient’s plasma plant sterol levels detected significant elevations in stigmasterol,rapeseed oil-derived plant sterol,andβ-glutaminol levels.Ezetimibe was started and a low plant sterol diet was recommended.The patient’s blood lipid profile was reexamined one month later and showed significant decreases in total cholesterol and LDL-C levels.Phytosterolemia has similar clinical features as familial hypercholesterolemia,is highly susceptible to misdiagnosis,and has a very low incidence,and therefore clinicians need to consider a genetic diagnosis of a definitively hyperlipidemic disorder when statin drugs fail to lower lipid levels.CONCLUSION Phytosterolemia is easily misdiagnosed as familial hypercholesterolaemia and can be treated by dietary modification and cholesterol absorption inhibitors to lower blood lipids.展开更多
植物固醇血症(OMIM:210250)是罕见的遗传代谢病,于1974年首次被报道,其主要临床特征为血清植物固醇水平增加,总胆固醇水平轻到中度增高[1-2]、多发皮肤肌腱黄色瘤及早发动脉粥样硬化等心血管疾病,严重者于5岁左右死于心肌梗死[3]。由于...植物固醇血症(OMIM:210250)是罕见的遗传代谢病,于1974年首次被报道,其主要临床特征为血清植物固醇水平增加,总胆固醇水平轻到中度增高[1-2]、多发皮肤肌腱黄色瘤及早发动脉粥样硬化等心血管疾病,严重者于5岁左右死于心肌梗死[3]。由于临床表型酷似纯合型家族性高胆固醇血症,也称为假性纯合型家族性高胆固醇血症,极易误诊漏诊误治[4]。目前认为植物固醇血症发病率为1/600万,全球报道病例仅约百例[5]。植物固醇血症的主要致病基因不同于家族性高胆固醇血症,为三磷酸腺苷结合盒转运体G5或G8(ATP binding cassette subfamily G member 5或8分别由ABCG5、ABCG8基因编码)缺陷[1]。展开更多
基金Supported by Natural Science Foundation of Heibei Province,No.H2020209160。
文摘BACKGROUND Phytosterolemia,also known as sitosterolemia,is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata,which is easily misdiagnosed as familial hypercholesterolemia.Patients with homozygous phytosterolemia often have severe clinical manifestations,with xanthomata in childhood and premature atherosclerosis.Our patient had a milder clinical phenotype.CASE SUMMARY This report describes a patient with homozygous phytosterolemia who presented with only elevated cholesterol and low-density lipoprotein cholesterol(LDL-C)without xanthomata,arteriosclerosis,or hematological abnormalities.Homozygous mutation of ABCG5 which encodes an ATP-binding cassette transporter,was detected by whole exome sequencing and diagnosed as phytosterolemia.Measurement of the patient’s plasma plant sterol levels detected significant elevations in stigmasterol,rapeseed oil-derived plant sterol,andβ-glutaminol levels.Ezetimibe was started and a low plant sterol diet was recommended.The patient’s blood lipid profile was reexamined one month later and showed significant decreases in total cholesterol and LDL-C levels.Phytosterolemia has similar clinical features as familial hypercholesterolemia,is highly susceptible to misdiagnosis,and has a very low incidence,and therefore clinicians need to consider a genetic diagnosis of a definitively hyperlipidemic disorder when statin drugs fail to lower lipid levels.CONCLUSION Phytosterolemia is easily misdiagnosed as familial hypercholesterolaemia and can be treated by dietary modification and cholesterol absorption inhibitors to lower blood lipids.
文摘植物固醇血症(OMIM:210250)是罕见的遗传代谢病,于1974年首次被报道,其主要临床特征为血清植物固醇水平增加,总胆固醇水平轻到中度增高[1-2]、多发皮肤肌腱黄色瘤及早发动脉粥样硬化等心血管疾病,严重者于5岁左右死于心肌梗死[3]。由于临床表型酷似纯合型家族性高胆固醇血症,也称为假性纯合型家族性高胆固醇血症,极易误诊漏诊误治[4]。目前认为植物固醇血症发病率为1/600万,全球报道病例仅约百例[5]。植物固醇血症的主要致病基因不同于家族性高胆固醇血症,为三磷酸腺苷结合盒转运体G5或G8(ATP binding cassette subfamily G member 5或8分别由ABCG5、ABCG8基因编码)缺陷[1]。
