Hemocromatosis hereditaria: diagnóstico y enfoque terapéutico actual

Abstract

Hereditary hemochromatosis, autosomal recessive disorder of iron metabolism, by mutant gene that produces an inappropriate increase in intestinal absorption and excessive deposition in parenchymal cells of the liver, pancreas and heart affecting its functionality and triggering: liver cirrhosis, cancer, diabetes mellitus, arthritis, cardiomyopathy, arrhythmias and hypogonadotropic hypogonadism. Clinical manifestations begin between 40 and 60 years, earlier in men than in women, being five to ten times more frequent, with progressive course, without diagnosis and timely treatment causes disability and death. The objective was to analyze studies related to the updating of risk factors, diagnosis and treatment of the disease. A systematic search was carried out in the databases PubMed, ProQuest, Embase, Redalyc, Ovid, Medline, Dyna Med and Clinical Key, EMBASE, LILACS during the period 2017-2022 in the international, regional and local context. The systematic review of articles provided a total of 48 records, of which 29 were eligible; of these, 4 were not relevant to the subject of this review, so 25 were included. The most significant risk factors are a family history of hemochromatosis, alcohol, iron and ascorbic acid macro dose. In the diagnosis, the clinical association of hepatomegaly, skin pigmentation, diabetes mellitus, cardiomyopathy and hypogonadism was significant, plus the quantification of parenchymal iron deposit, analysis of liver functionality, serum ferritin, percentage of transferrin saturation, liver biopsy and genetic analysis. Treatment consists of phlebotomy and chelation.