Recommendations of EASL clinical practice guidelines on haemochromatosis.
10.3760/cma.j.cn501113-20220717-00384
- VernacularTitle:欧洲肝病学会《血色病临床实践指南》推荐意见
- Author:
Shan TANG
1
;
Su Jun ZHENG
1
;
Zhong Ping DUAN
1
Author Information
1. The First Department of Liver Center, Beijing Youan Hospital, Capital Medical University, Beijing 100069, China.
- Publication Type:Journal Article
- MeSH:
Male;
Humans;
Female;
Hemochromatosis/therapy*;
Hemochromatosis Protein/genetics*;
Carcinoma, Hepatocellular/complications*;
Iron Overload/genetics*;
Ferritins;
Liver Cirrhosis/complications*;
Iron;
Fibrosis;
Liver Neoplasms/complications*;
Transferrins
- From:
Chinese Journal of Hepatology
2022;30(9):934-938
- CountryChina
- Language:Chinese
-
Abstract:
Haemochromatosis is characterised by elevated transferrin saturation (TSAT) and progressive iron loading that mainly affects the liver. Early diagnosis and treatment by phlebotomy can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy and other complications. In patients homozygous for p.Cys282Tyr in HFE, provisional iron overload based on serum iron parameters (TSAT >45% and ferritin >200 μg/L in females and TSAT >50% and ferritin >300 μg/L in males and postmenopausal women) is sufficient to diagnose haemochromatosis. In patients with high TSAT and elevated ferritin but other HFE genotypes, diagnosis requires the presence of hepatic iron overload on MRI or liver biopsy. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management. Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma. Treatment targets for phlebotomy are ferritin <50 μg/L during the induction phase and <100 μg/L during the maintenance phase.
