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
;
Zhuang TIAN
2
;
Wei CHEN
3
;
Mingsheng MA
4
;
Xin LIU
5
;
Yan QIN
6
;
Haifeng XU
7
;
Zhijun ZHU
8
;
Shuyang ZHANG
9
Author Information
1. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.Department of Clinical Nutrition & Health Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
2. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.Department of International Medical Services, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
3. Department of Clinical Nutrition & Health Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
4. Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
5. Department of Pharmacy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
6. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
7. Department of Liver Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
8. Liver Transplantation Center, Clinical Center for Pediatric Liver Transplantation, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
9. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, 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.
