Epidemiological And Clinical Characteristics Of 119 Patients With Hemochromatosis

[Objective] Hematochromatosis(HC)is a group of rare metabolic diseases characterized by iron metabolism disorders that lead to iron deposition in the liver,pancreas,heart,endocrine cells,and other target organs,resulting in stromal cell destruction,fibrous tissue proliferation,and subsequent organ damage.It is divided into primary and secondary hemochromatosis,which is easily misdiagnosed and missed clinically.This study conducted a retrospective analysis of 119 patients with hemochromatosis admitted to our hospital in order to preliminarily understand the admission and treatment of hemochromatosis in our hospital in recent years,analyze the epidemiological and clinical characteristics of hemochromatosis patients,and provide a certain scientific basis for formulating prevention and control measures and early diagnosis and treatment.[Methods] The clinical data of 119 patients with hemochromatosis admitted to the First Affiliated Hospital of Kunming Medical University from January 1,2012 to December 31,2022 were retrospectively collected,including their medical history,auxiliary examinations,diagnosis,and treatment.The epidemiological characteristics,general conditions,laboratory examination data,symptoms,and treatment plans of the patients were statistically analyzed.[Results]1.Among the 19 patients with HC,46(38.7%)had PHC and 73(61.3%)had MHC.There are 98 males(82.4%)and 21 females(17.6%),with a male to female ratio of about 4.7:1,with significantly more males than females.The minimum age is6 years,the maximum age is 81 years,and the average age is 48.7 ± 16.2 years.There are 113 cases of Han nationality,3 cases of Yi nationality,1 case of Tibetan nationality,1 case of Dai nationality,and 1 case of Bai nationality.The onset age of PHC patients is mostly concentrated under 60 years of age,with an average age of 34.3 ± 13.1 years,while the onset age of SHC is concentrated above 30 years of age,with an average age of 55 ± 19.7 years.PHC patients have an earlier onset than SHC patients(p<0.05).2.Among the 19 patients with HC,the most common clinical manifestations were skin pigmentation in 68 cases(57.1%),hepatomegaly in 59 cases(49.6%),splenomegaly in 54 cases(45.4%),and asthenia in 49 cases(41.2%).The second was jaundice in 47 cases(39.5%),elevated blood sugar in 41 cases(34.5%),liver cirrhosis in 38 cases(31.9%),cardiovascular disease in 33 cases(27.7%),and abdominal pain in 25 cases(21.0%)."It is not consistent with the reports of joint disease(86.5%),fatigue(81.3%),psychological or cognitive impairment(73.1%),skin pigmentation(70.4%),menstrual problems(62.9%),and sexual dysfunction(57.3%)in the British literature.".3.Cases of anemia were found in PHC patients,and 22 cases of anemia were found in SHC patients.SHC patients were found to be more prone to anemia(p<0.01)."All 119 patients with hemochromatosis had abnormalities in biochemical indicators of iron metabolism(transferrin saturation and serum iron eggs).Two patients had mutations in the HH gene,all of which were mutations in the HJV gene,and both patients were younger than 20 years of age(6 and 14 years of age).".The positive rate of abdominal CT examination was 41.3%,and the positive rate of abdominal MRI examination was 86.4%.The positive rate of abdominal MRI examination was significantly higher.(p<0.05)4.73 patients with SHC had a basic medical history,and the frequency sequence was as follows:(1)43 patients(58.9%)received repeated blood transfusion;(2)Ineffective hematopoiesis in 25 cases(34.2%);(3)24 cases(32.9%)of chronic liver disease;(4)There were 8 cases(11.0%)of hemolytic anemia,consistent with the current domestic and foreign literature reports.5.119 patients with HC were treated with iron chelating agent in 39 cases,PHC in 5 cases,and SHC in 34 cases.17 cases were treated with venous bleeding,14 cases with PHC,and 3 cases with SHC.Two patients with SHC were treated with iron chelating agent and intravenous bleeding.Two patients were treated with red blood cell removal,one for PHC and one for SHC.59 cases were treated with symptomatic support,26 cases with PHC,and 33 cases with SHC.In terms of treatment options,PHC patients tend to receive intravenous bleeding therapy(p<0.05),while SHC patients tend to receive iron chelating agent therapy(p<0.05).[Conclusion]1.The average age of onset of PHC patients is 34.3 ± 13.1 years old,while the average age of onset of SHC is 55 ± 19.7 years old.PHC patients have earlier onset than SHC patients.This may be related to gene mutations in patients with PHC,and patients with HJV gene mutations are more likely to develop early disease.2.The common clinical symptoms of 119 patients with hemochromatosis are skin pigmentation,hepatomegaly,splenomegaly,and fatigue,which are not fully consistent with the current reports of joint disease,fatigue,psychological or cognitive impairment,skin pigmentation,menstrual problems,and sexual dysfunction in European and American literature.3.Patients with unexplained liver dysfunction,hepatosplenomegaly,abdominal pain,and fatigue should be alert to the possibility of hemochromatosis.Improving SF,TSAT,and abdominal MRI can help diagnose hemochromatosis.Liver biopsy can not only diagnose hemochromatosis,but also clarify the patient’s liver iron accumulation,which is helpful for the diagnosis and treatment of hemochromatosis.For patients with PHC,genetic testing should be improved when conditions permit.Patients with long-term blood transfusion,hematological diseases such as ineffective hematopoiesis,and chronic liver diseases should be regularly monitored for SF and TSAT indicators.If iron overload is found,treatment should be initiated as soon as possible.4.Once there is clinical evidence of iron overload,treatment should begin.The goal of the induction phase is to reduce serum ferritin to below 50 ug/L,and the goal of the maintenance phase is to maintain serum ferritin at 50 ug/L-100 ug/L.Clinically,iron chelating agent therapy and intravenous blood letting therapy are mainly used,and red blood cell removal is also a first-line treatment plan.Patients with PHC are more suitable for intravenous bleeding therapy,while SHC is more prone to anemia,so it is more suitable for iron chelating agent treatment.