Secondary Hemochromatosis: A Case Report And Literature Review

BackgroundHemochromatosis（HC）is divided into primary and secondary.Primary hemochromatosis,also known as hereditary hemochromatosis（HH）,is an autosomal recessive genetic disease.It is rare in China.Secondary hemochromatosis（SHC）is a progressive disease,mostly secondary to other diseases and/or treatments.The etiology of HC is complex.It is of great significance to improve the detection of the HH gene for a clear diagnosis.The early clinical manifestations are lack of specificity and easy to be missed and misdiagnosed.ObjectiveThe clinical data of a case of secondary hemochromatosis were analyzed,and the related literature was combined to discuss and analyze.The aim is to improve the understanding level of clinicians,on hemochromatosis,so as to facilitate the early diagnosis and regular treatment of HC,so as to prevent irreversible organ damage and effectively improve the clinical prognosis of patients.MethodsThe clinical data of a case of secondary hemochromatosis in The First Affiliated Hospital of Guangxi Medical University was reported.A retrospective study of the patient’s medical history,physical examination results,laboratory examination results,abdominal MRI results,pathological examination results of the liver,gene examination results,disease diagnosis,differential diagnosis,treatment process,and clinical outcomes were reviewed.To review the related literature,and to discuss and summarize the disease.Results（1）The patient is a 49-year-old male.He was admitted to the hospital for“repeated abdominal distention and abdominal pain for more than 30 years”.30years ago,the examination found hepatosplenomegaly.He had a medical history of thalassemia in childhood.The history of hepatitis and blood transfusion were denied.In recent years,he has repeated abdominal distension,and abdominal pain was intolerable,accompanied by fatigue and intermittent jaundice.Until July2017,liver pathological results showed liver hemochromatosis and he has begun to Irregular therapy with deferiprone.On physical examination,the patient had skin pigmentation.The liver was three fingers under the ribs,and the spleen was four fingers under the ribs on the abdominal examination,while no abnormalities were found in the cardiac and pulmonary.Serum ferritin（SF）was 4329.88ng/ml.Magnetic Resonance Imaging（MRI）showed hepatic and splenetic iron overload,hepatosplenomegaly.The--^SEA/α^CSαwas confirmed by gene detection.Without chronic liver disease,congenital sideroblastic anemia（CSA）,HH,and other diseases,the diagnosis was considered as the SHC caused by the--^SEA/α^CSα.After the diagnosis,the patient has been treated with irregular deferiprone,and the serum ferritin was more than 2000 ng/ml.the treatment effect was not good,and the disease had developed into cirrhosis.（2）Results of the literature review:A total of 135 cases of HC in China were collected,and the ratio of male to female was 112:23.The minimum age is 43 days,the maximum age is 83 years,and the average age is 44 years.The main clinical symptoms include pigmentation（59.1%）,splenomegaly（57.4%）,hepatomegaly（44.9%）,diabetes（38.6%）,asthenia（41.0%）,jaundice（33.9%）,cirrhosis（29.1%）,heart disease（19.7%）,abdominal pain（15.7%）,sexual dysfunction（11.0%）,joint disease（3.1%）,amenorrhea（3.1%）,and liver cancer（1.6%）.The basic diseases were mainly chronic hepatitis and invalid erythropoiesis diseases（31.8%）,with or without blood transfusion.There were 2 cases of HH with invalid erythropoiesis diseases（1.4%）,1 case of HH with AOSD（0.7%）.85 cases without a detailed record of basic diseases（63.0%）.The main treatments were iron chelator and phlebotomy（56 cases）,in which 3 patients died of multiple organ failure.A total of 25 cases completed the related gene detection of hereditary hemochromatosis and were found to have gene abnormality,mainly including HFE H63D、HFE C282Y/R71X、HJV、TFR2、SLC40A1 other Non-HFE HH.Conclusions1.The clinical symptoms of HC include skin pigmentation,cirrhosis,diabetes,hepatosplenomegaly,asthenia,abdominal pain,heart disease,sexual dysfunction,joint disease,etc.2.In case of unknown liver function abnormality,hepatosplenomegaly,abdominal pain,and asthenia,we should be alert to the possibility of hemochromatosis,and improve SF,TS,and abdominal MRI as soon as possible to avoid misdiagnosis and missed diagnosis.3.The etiology of HC is complex.HH gene detection can help diagnosis and guide treatment.4.The main treatments were iron chelator and phlebotomy.5.Early diagnosis and regular treatment are the keys to the prognosis of HC patients.