家族性高胆固醇血症
医学
皮肤病科
鉴别诊断
史密斯-莱姆利-奥皮茨综合征
内科学
病理
胆固醇
生物
生物化学
7-脱氢胆固醇还原酶
还原酶
酶
作者
Simon-Pierre Guay,Martine Paquette,Chantal Blais,Géraldine Gosse,Alexis Baass
标识
DOI:10.1210/jcemcr/luae086
摘要
Abstract Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood and tissues. Clinically, it can present with hypercholesterolemia and xanthomas, often causing it to be misdiagnosed as familial hypercholesterolemia (FH). The diagnosis of sitosterolemia can easily be confirmed and distinguished from FH with a sterol profile and genetic investigations. Here, we report a sibship of 2 sisters with sitosterolemia initially misdiagnosed as FH. This case report illustrates the importance of considering rare conditions, such as sitosterolemia, as a differential diagnosis in patients with hypercholesterolemia, xanthomas, and hematologic anomalies. It also emphasizes the underdiagnosis of sitosterolemia and the benefits of using sterol profiles and genetic testing in the diagnostic process to initiate the appropriate therapy and avoid harm to patients.
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