Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

ABSTRACT:

Background

Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom are frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition of STSL.

Objectives

To present the clinical and laboratory characteristics of xanthomatous children diagnosed with sitosterolemia in comparison with childhood FH with xanthomas.

Methods

We summarized and compared the clinical characteristics of STSL and FH patients with xanthomas as the first manifestations and investigated the different indicators between the STSL and FH groups, as well as their diagnostic values for STSL.

Results

Two tertiary pediatric endocrinology departments contributed ten STSL cases. Five of the STSL pati

SUBMITTER: Zhang J 

PROVIDER: S-EPMC9563796 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature