Genetic and hematological phenotypic studies on sitosteronism patients combined with cardiovascular and cerebrovascular events
10.3760/cma.j.cn114452-20231207-00338
- VernacularTitle:谷固醇血症合并心脑血管事件患者的基因和血液学表型分析
- Author:
Jiaming LI
1
;
Jialu ZHAO
;
Xuefeng WANG
;
Jianbiao WANG
Author Information
1. 上海交通大学医学院附属瑞金医院输血科，上海 200025
- Keywords:
Sitosterolemia;
Stomatocytes;
Gene mutation;
von Willebrand factor
- From:
Chinese Journal of Laboratory Medicine
2024;47(7):806-811
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical manifestations, genetic and hematological test results of patients with sitosteronism (STSL) complicated with cardiovascular and cerebrovascular events.Methods:Clinical data were collected from 11 STSL patients at the outpatient department of Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine between November 2020 to June 2023. The whole exome sequencing technology was used to detect gene mutations associated with lipid metabolism, the serum total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) were tested by the enzyme endpoint method; serum phytosterol levels by high-performance liquid chromatography; serum concentration of C-reactive protein (CRP), interleukin-6 (IL-6) and tumor necrosis factor (TNF-α) by enzyme-linked immunosorbent assay, concentration of fibrinogen, the activity of protein C and coagulation factor Ⅷ (FⅧ) by the coagulation method; the antigen and activity of von Willebrand factor (vWF) by immunoturbidimetric assay; and the activity of antithrombin Ⅲ (ATⅢ) by chromogenic substrate assay.Results:There were 3 cases of coronary heart disease, 6 cases of cerebral infarction, 2 cases of coronary heart disease combined with cerebral infarction, 4 cases of eyelid melasma, and 2 cases of arthritis. Gene mutation was as follows: ABCG5 gene mutation including exon9: c G1166A: p R389H, exon9: c T1195C: p F399L, exon12: c.1762+1G>A, and ABCG8 gene mutation including exon 11 c.1720G>A: p.Gly574Arg, exon4:c.445_453del:p.A149_V151del, exon13 c.1949T>G: p.Leu650Arg. The percent of stomatocytes in the peripheral blood swears was (11.3±8.6)%. The concentrations of TC, LDL-C and sitosterol was (6.8±2.4), (4.4±2.0) mmol/L and 40.0 (22.0, 203.7) μmol/L. The level of CRP, interleukin IL-6, and TNF-α was 15.5 (7.2, 29.6)mg/L, (4.2±2.0) pg/ml and (6.7±1.5) pg/ml, respectively.The activity of PC, FⅧ and ATⅢ was (114±51)%, (110±41)% and (83±33)%. The values of FIB was (3.2±1.4)g/L.vWF antigen and vWF activity was (305±168)% and (275±112)%.Conclusions:STSL patients combined with cardiovascular and cerebrovascular events not only had complex dysfunctional lipid metabolism related gene defects, but also had significantly increased hematological indicators such as inflammatory mediator CRP, coagulation parameter vWF.
