A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation
10.12376/j.issn.2097-0501.2023.01.008
- VernacularTitle:纯合子家族性高胆固醇血症患儿肝移植术治疗随访一例
- Author:
Peipei CHEN
1
,
2
,
3
,
4
;
Zhuang TIAN
1
,
4
,
5
;
Wei CHEN
3
,
4
,
6
;
Mingsheng MA
4
,
7
;
Xin LIU
4
,
8
;
Yan QIN
4
,
9
;
Haifeng XU
4
,
10
;
Zhijun ZHU
11
;
Shuyang ZHANG
1
,
4
Author Information
1. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.Department of Clinical Nutrition &
3. Health Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
4. Peking Union Medical College, Beijing 100730, China.
5. Peking Union Medical College, Beijing 100730, China.Department of International Medical Services, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
6. Department of Clinical Nutrition &
7. Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
8. Department of Pharmacy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
9. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
10. Department of Liver Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
11. Liver Transplantation Center, Clinical Center for Pediatric Liver Transplantation, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
- Publication Type:Journal Article
- Keywords:
homozygous familial hypercholesterolemia;
liver transplantation;
low-density lipoprotein cholesterol(LDL-C)
- From:
JOURNAL OF RARE DISEASES
2023;2(1):55-62
- CountryChina
- Language:Chinese
-
Abstract:
Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH.
