An excerpt of the EASL clinical practice guidelines on haemochromatosis / 临床肝胆病杂志

In March 2022, EASL released a new version of the clinical practice guidelines on haemochromatosis. Haemochromatosis is characterized by elevated transferrin saturation (TSAT) and progressive iron overload mainly involving the liver, and early diagnosis and venesection can prevent liver cirrhosis, hepatocellular carcinoma, diabetes, arthritis, and other complications. For patients with p.Cys282Tyr homozygous mutation of the hemochromatosis gene HFE , haemochromatosis can be diagnosed if serum iron parameters show TSAT > 45% and ferritin > 200 μg/L in female patients, or TSAT > 50% and ferritin > 300 μg/L in male patients and postmenopausal female patients. If a patient has elevated TSAT and ferritin and belongs to other HFE genotypes, magnetic resonance or liver biopsy is needed to confirm iron overload in the liver. Liver fibrosis stage and damage to other organs should be carefully assessed at the time of diagnosis, which will help to determine management strategies. Hepatocellular carcinoma should be screened for patients with progressive liver fibrosis. The goal of venesection is to achieve ferritin < 50 μg/L during the induction stage and ferritin < 100 μg/L during the maintenance stage.

Hereditary haemochromatosis presenting as diabetes and complicated with abnormal liver function, hypogonadism, osteoporosis: a case report / 中华内分泌代谢杂志

Hereditary hemochromatosis(HH) is relatively rare in the Chinese population, and the disease can involve multiple systems. It is easy to be missed and misdiagnosed due to nonspecific clinical manifestations. We report on a case with diabetes as the first diagnosis and being confirmed HH later. In addition to abnormal liver function, this patient also developed a variety of endocrine and metabolic diseases such as hypogonadism and osteoporosis. Included with this case report is a literature based discussion of clinical features, management of HH along with its relationship with endocrine dysfunction to improve disease understanding.

Secondary haemochromatosis in a haemodialysis patient

A 39-year-old woman with end-stage renal disease, which was maintained on haemodialysis, developed secondary haemochromatosis after receiving blood transfusions and intravenous iron supplementation without sufficient serum ferritin concentration monitoring. The patient received intravenous deferoxamine three times a week, combined with high-dose recombinant human erythropoietin therapy and haemodialysis. After three months, improvements in biochemical indicators and iron overload were noted.

Surgery for hepatocellular carcinoma in patients with liver cirrhosis associated with haemochromatosis / 中华肝胆外科杂志

Objective A retrospective analysis was carried out in 3 cases of hepatocellular carcinoma (HCC) and liver cirrhosis associated with haemochromatosis in our hospital, to investigate the effect of surgery, radio frequency ablation (RFA) and erythroapheresis in such patients. Methods 8 operations including partial liver resection and ultrasound-guided percutaneous transhepatic RFA were performed in 3 male patients with HCC and liver cirrhosis arising from haemochromatosis.Capecitabine was used in 2 patients. Erythroapheresis was performed in all 3 patients. Result Pathological examination showed hepatocellular carcinoma and liver cirrhosis. Positive Prussian blue staining confirmed the diagnosis of haemochromatosis. The mean survival time of 3 patients was 86 months (from 39 to 154 months). Conclusion It is important to discover HCC in patients with haemochromatosis as early as possible. The curative therapy is liver transplantation and hepatic resection. For patients with recurrent HCC, the combined therapy including RFA, chemotherapy and erythroapheresis could prolong their survival.