• Xin Yin, Yu Zhang, Hui Gao, Qing-Long Jin, and Xiao-Yu Wen.
• Department of Hepatology, The First Hospital of Jilin University, Changchun.
• Medicine (Baltimore). 2019 Nov 1; 98 (44): e17526e17526.

RationaleHereditary hemochromatosis (HH) is a frequent autosomal recessive disease. The pathogenesis of disease is excessive intestinal absorption of dietary iron, resulting in pathologically high iron storage in tissues and organs. As a systemic disease, it has several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease. However, a proportion of patients are asymptomatic.Patient ConcernsA 34-year-old man who had abnormal liver function for 9 months without specific symptoms. He underwent various tests, including liver biopsy and genetic testing, which eventually ruled out common liver diseases and identified iron metabolic abnormalities. In addition, we confirmed the pathogenic genes by sequencing the genes of him and his families.DiagnosisCombined with the symptoms, auxiliary examinations and sequencing results, the patient was diagnosed as HH.InterventionsThe patient was given a low iron diet and phlebotomy therapy interval 2 weeks until the ferritin is <100 mg/L.OutcomesThe patient' condition is stable during the follow-up period.LessonsWhen clinicians are confronted with unexplained liver dysfunction, the possibility of the HH should be considered. Liver biopsy and gene sequencing are helpful in diagnosis. Phlebotomy treatment is the most economical and practical treatment for HH at present, but it should vary from person to person.

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