A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation / 罕见病研究
JOURNAL OF RARE DISEASES
;
(4): 55-62, 2023.
Artigo
em Inglês
| WPRIM
| ID: wpr-1005061
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
JOURNAL OF RARE DISEASES
Ano de publicação:
2023
Tipo de documento:
Artigo
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