Clinical and hepaticpathological characteristics of iron overload in 22 patients with hemochromatosis

ZHANG Ziying; WANG Zerui; YUAN Mengqi; FAN Xing; Subinyer·Yilamujiang; SHI Lei; WANG Fusheng

doi:10.3969/j.issn.1007-8134.2023.05.008

Abstract：Objective To study the clinical and hepatic pathological features of iron overload in patients with haemochromatosis,summarize the treatment of haemochromatosis,and improve clinicians'understanding of iron overload diseases.Methods The research included all patients admitted with a diagnosis of hemochromatosis at the Fifth Medical Centre of PLA General Hospital from January 2012 to December 2022,and the clinical data of patients were collected and retrospectively analyzed.Results A total of 22 cases of hemochromatosis patients who were diagnosed as iron overload,includes 7 cases with primary hemochromatosis(36.36％)and 15 cases with secondary hemochromatosis(63.64％).Clinical symptoms such as malaise,abdominal,and skin pigmentation were predominant in the patients,and the most common comorbidities were anemia and cirrhosis.The serum ferritin,serum iron,and iron saturation of patients were elevated compared to normal,and these indices were higher in primary hemochromatosis patients than in secondary hemochromatosis patients.In addition,liver pathology in the patients showed evident iron deposition and fibrosis,but inflammatory activity was mostly mild to moderate;imaging showed hepatosplenomegaly and iron overload.The patients'hemochromatosis and iron overload were treated mainly with phlebotomy and iron chelating drugs,and the comorbidities were treated with standard therapy,resulting in improvement in 21 patients and ineffective treatment in one case.Conclusions This study presents the characteristics that majority of patients who were with chronic hepatitis and/or cirrhosis have a favorable prognosis after therapy.The data offer clinic evidence for clinical diagnosis and etiological elimination therapy of hemochromatosis.