Report of two families of monogenic familial hypercholesterolemia like phenotype

doi:11.3969/j.issn.1674-8115.2015.02.029

• Case report • Previous Articles

Report of two families of monogenic familial hypercholesterolemia like phenotype

HE Jin-chun^1,2, ZHOU Shan-shan², LI Yan-ping¹, YAO Li-qiong¹, SU Na¹, CHEN Bao-jin¹, LI Lin¹, HE Jin-xiang³

1.Department of Laboratory， the First Hospital of Lanzhou University， 2.Department of Postgraduate, the First Clinical College of Lanzhou University， 3.Department of Radiation， the First Hospital of Lanzhou University， Lanzhou 730000， China

Online:2015-02-28 Published:2015-02-27
Supported by:
National Key Technology Research and Development Program of China during the “10th FiveYear” Plan，2002DA711A028-17； Science and Technology Infrastructure Platform of Ministry of Education， 505015；Natural Science Foundation of Gansu Province， 1308RJZA218, 2011y0217； China Scholarship Council; Horizontal Subject Foundation, 2012620111000212

Abstract

Abstract:

Objective To report 2 families of monogenic familial hypercholesterolemia and their pedigree analysis and to improve the understanding of familial hypercholesterolemia. Methods The pedigree, biochemical results, and clinical data of 2 families of monogenic familial hypercholesterolemia were analyzed. Results There were 17 patients among 22 surviving members of two families. The onset of homozygous patients was earlier. Typical xanthoma was found among them. Their serum total cholesterol and low density lipoprotein cholesterol significantly increased. Triglycerides were normal. Electrocardiogram changes caused by the myocardial ischemia was discovered in the early stage. Conclusion The onset of this disease is early and can cause serious damages. Patients should undergo the early lipid-lowering therapy.

Key words: familial hypercholesterolemia, family, phenotype

HE Jin-chun, ZHOU Shan-shan, LI Yan-ping, et al. Report of two families of monogenic familial hypercholesterolemia like phenotype[J]. , doi: 11.3969/j.issn.1674-8115.2015.02.029.

[1]	HAN Longchuan, LI Yue, ZOU Zhihui, LUO Jing, LI Ruoyi, ZHANG Yingting, TANG Xinxin, TIAN Lihong, LU Yuheng, HUANG Ying, HE Ming, FU Yinkun. Phosphatidylethanolamine promotes macrophage senescence and liver injury by activating endoplasmic reticulum stress [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2025, 45(6): 693-704.
[2]	CHEN Yongyu, HUANG Yiren, CHEN Zheyi, ZHOU Bingqian, CHEN Shiyu, ZHENG Yingxia. Expression of serpin family E member 1 in gastric cancer and its mechanisms in promoting gastric cancer [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2025, 45(2): 150-160.
[3]	XIE Bin, BAI Meng, WU Yan, WO Lulu, HUANG Ying, ZHANG Jing. Potential role of SUMO-specific proteases 1 in ferroptosis [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2025, 45(1): 11-19.
[4]	LI Ying, TAN Yangxia, YIN Hongxin, JIANG Yanling, CHEN Li, MENG Guoyu. Research progress in the pathogenesis and prognosis of ZNF384 fusion subtype acute leukemia [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2023, 43(5): 631-640.
[5]	ZHU Xiaowei, ZHONG Ping, CAO Li, LUAN Xinghua. Clinical and genetic characteristics of Charcot-Marie-Tooth disease with cerebellar ataxia [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2023, 43(3): 350-357.
[6]	YANG Wenqian, CHEN Chiqi, ZHAO Lu, CAO Liyuan, XIA Yiqiu, LU Zhigang, ZHENG Junke. Immune inhibitory receptor LILRB2 enhances SARS-CoV-2 spike protein-mediated immune inflammation [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(9): 1188-1196.
[7]	TANG Kairan, WU Qiong, HUANG Sijia, QIU Xudong, LI Wenyan, DENG Huayun, HUANG Lei. Screening of MUCIN family members synergistic with MUC1 in tumor chemoresistance [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(9): 1288-1295.
[8]	DING Siqi, HUANG Xiaojun, ZHAN Feixia, TIAN Wotu, CAO Li. Two cases of hemiplegic migraine caused by ATP1A2 gene mutation [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(8): 1158-1162.
[9]	LIAO Yahui, LIU Liyun, ZHU Hongrui, LIN Houwen, YAN Jizhou, SUN Fan. Marine sponge-derived smenospongine overcomes resistance of cisplatin via inhibiting EGFR-Akt-ABCG2 pathway in NSCLC cells [J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(8): 997-1007.
[10]	Ke-ke LI, Zhao-lin CHEN, Ying FENG, Yang XIAO. Correlation between genotype and phenotype of inherited factor Ⅴ deficiency [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(8): 1074-1080.
[11]	Yu-sheng LU, Wen-yi YANG, Hai-long MA, Jing-zhou HU. Impact of Ras association domain family 5 on cell migration and invasion of head and neck squamous cell carcinoma [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(6): 717-723.
[12]	Jian-hua XU, Ping JIANG, Jiong DENG. Expression and significance of ATP-binding cassette superfamily G member 2 in lung cancer [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(6): 830-833.
[13]	Wei LIU, Min-wen ZHU, Lan WU. Array detection and expression verification of DNA damage repair related genes in oral leukoplakia cancerization [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(3): 302-307.
[14]	Jian-xiao SHEN, Wan-peng WANG, Xing-hua SHAO, Jing-kui WU, Shu LI, Xia-jing CHE, Zhao-hui NI. Changes of m⁶A methylation in renal tissue during cisplatin-induced acute injury [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(12): 1603-1611.
[15]	LIU Ming-dong, LIU Xiao-bo, ZHAO Ying-jie, ZHANG Yan, ZHANG Hui-hui, LI Fu-bin. Establishment and validation of OX40/FcγR-humanized mice for the study of agonistic anti-OX40 antibody [J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2020, 40(6): 728-735.

Report of two families of monogenic familial hypercholesterolemia like phenotype

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

TrendMD

References

Related Articles 15

Recommended Articles

Metrics

Comments