Clinical Characteristics of Sitosterolemic Children with Xanthomas as the First Manifestation
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2022.0214
- VernacularTitle:以黄色瘤就诊的谷固醇血症患儿临床特征
- Author:
Jun ZHANG
1
;
Qiu-li CHEN
1
;
Song GUO
1
;
Yan-hong LI
1
;
Chuan LI
2
;
Ru-jiang ZHENG
1
;
Hua-mei MA
1
Author Information
1. Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China
2. Department of Pediatrics, The Second Affiliated Hospital of Guangxi University, Nanning 530000,China
- Publication Type:Journal Article
- Keywords:
xanthoma;
sitosterolemia;
mean platelet volume;
anemia;
familial hypercholesterolemia;
plant sterols
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2022;43(2):276-288
- CountryChina
- Language:Chinese
-
Abstract:
ObjectivesTo summarize the clinical characteristics of children with Sitosterolemia （STSL）with xanthomas as the first manifestation and to provide clues for early clinical identification and diagnosis. MethodsWe summarized the clinical characteristics of STSL cases and explored the differences between the STSL and FH groups in cholesterol （Chol）， low-density lipoprotein cholesterol （LDL-c）， mean platelet volume （MPV）， proportion of anemia， and diagnostic value of STSL. Ten STSL cases were from the pediatric endocrinology department of two tertiary hospitals， including five boys and five girls. Ten cases of homozygous FH with a primary manifestation of xanthomas were included： four boys and six girls. ResultsIn the STSL group， five patients （50%） had mild anemia， and two patients （20%） had vascular complications. Serum Chol and LDL-c were significantly higher than the corresponding levels of the parents. There were nine homozygous or compound heterozygous variants of ABCG5 and one compound heterozygous variant of ABCG8. The morphology of the xanthomas in the FH group was similar to that of the STSL group. There was no case of anemia in the FH group. The serum Chol and LDL-c values were significantly higher than those in the STSL group （the P values were 0.001 and 0.003， respectively）. The MPV values and the proportion of anemia were significantly higher in the STSL group （the P values were 0.006 and 0.033， respectively）. The AUC values of Chol， LDL-c， MPV， and anemia for the diagnosis of STSL were 0.910， 0.890， 0.869， and 0.750， respectively， all of which had good diagnostic value. The diagnostic thresholds of each indicator were taken when Youden’s J statistic was at its maximum. The best thresholds for diagnosing STSL were Chol≤15.41 mmol/L， LDL-c≤13.22 mmol/L， MPV≥9.05 fl， or anemia present. ConclusionsXanthomas of STSL present with varying morphologies， which are similar to those of FH. The clinical diagnosis of STSL is likely to be made when xanthomas are the first manifestation of a patient with Chol≤15.41 mmol/L， LDL-c≤13.22 mmol/L， MPV≥9.05 fl， or anemia.
