Clinical Analysis Of 17 Cases Of Hemochromatosis And Literature Review

Objective:Blood disease(Hemochromatosis,HH),also known as the hemoglobin AD cool-headed disease,excessive iron deposition,etc.,according to the causes can be divided into primary hemochromatosis and secondary hemochromatosis.Hemochromatosis is a rare disease in our country,misdiagnosis and missed diagnosis are extremely easy in clinical practice.In this study,the clinical characteristics of 17 patients with hemochromatosis in our hospital were analyzed,and relevant literature review was conducted to improve the understanding of the disease and the level of diagnosis and treatment.Materials and methods:The basic medical history,auxiliary examination,treatment and other clinical data of 17 cases of hemochromatosis diagnosed and treated in our hospital from January 1,2000 to December 30,2018 were retrospectively collected and analyzed,and their characteristics were summarized.Results: 1 Among the 17 patients with hemochromatosis,the youngest was 24 years old,the oldest was 80 years old,and the average age was 51.2 15.1 years old.There were 13 males and 4 females,and the ratio of male to female was 3.25:1.The majority of the middle-aged and elderly male morbidity.2 The clinical manifestations of hemochromatosis are complex and lack of specificity,most of which are symptoms or signs of one or more of the blood system,endocrine system,digestive system,cardiovascular system and other systems.The first symptom of primary hemochromatosis is most common in the digestive system.The first symptom of secondary hemochromatosis is most common in the blood system.Liver involvement was the most common clinical manifestation,followed by liver involvement and diabetes symptoms.3 Hemochromatosis is extremely easy to be missed or misdiagnosed.Among the 17 cases of hemochromatosis,5 cases have been misdiagnosed or missed diagnosis,accounting for 29.41%.Seven patients with primary hemochromatosis took 2-5 years from symptom onset to diagnosis,with a median of 18 months.All the 10 patients with secondary hemochromatosis had hematopathy and a long history of repeated blood transfusion.It took 3 months to 20 years from the occurrence of primary symptoms to the diagnosis of hemochromatosis,with a median of 42 months.The diagnosis process was long and tortuous.4 All the 17 patients with hemochromatosis had abnormal biochemical indexes of iron metabolism.Transferrin saturation ranged from 35.9% to 92.5% in 6 cases.The lowest ferritin level in 16 patients was 718.10ug/L,and 11 cases had ferritin > 1500ug/L.7 routine MR examinations were performed,and 3 cases showed low T1W1 and T2W2 signal,and 1 case showed excessive liver iron content,which was helpful for the diagnosis of hemochromatosis.The HH gene mutation was detected in 4 patients with hemochromatosis.Liver histopathological examination was performed in 3 patients,and pancreatic histopathological examination was performed in 1 patient.Conclusion : 1 The possibility of hemochromatosis should be considered in patients with unknown liver damage,especially those with clinical manifestations of liver damage and diabetes mellitus.It is suggested to test iron metabolism indexes.If the ferritin or transferrin saturation increases,the possibility of hemochromatosis should be considered.MR examination of the liver should be improved at this time,if T1W1 and T2W2 are suggested to be low signal or excessive iron content in the liver.if possible,liver biopsy and/or genetic testing related to hemochromatosis are available.2 Secondary hemochromatosis is most common in hematopathy who has a long history of blood transfusion,easily missed diagnosis,because the clinical symptoms of hemochromatosis is not typical.It is suggested to regularly monitor iron metabolism indexes such as ferritin and transferrin saturation in such patientsto avoid misdiagnosis and missed diagnosis.