Hereditary hemochromatosis: pathogenesis, symptoms, diagnosis and current treatment - literature review

Abstract

Introduction: Hereditary hemochromatosis is the most common genetic disorder in Northern Europe. It involves an overload of iron in the tissues due to a deficiency of the protein hepcidin. 85-90% of cases are associated with homozygous mutations of the C282Y gene in the HFE gene. Symptoms are nonspecific and include cardiac disorders, liver cirrhosis, hepatocellular carcinoma, diabetes, hypogonadism and sexual dysfunction, and arthritis. The diagnosis of the disease is based on demonstrating elevated serum ferritin levels and transferrin saturation, as well as identifying the mutation responsible for hereditary hemochromatosis. Early diagnosis is crucial in preventing permanent organ complications. Treatment methods include phlebotomy, therapeutic erythrocytophoresis, and the use of iron chelating drugs. Early detected and properly treated hemochromatosis allows for a lifespan comparable to the general population. Aim: The purpose of this article is to provide a comprehensive summary of the etiology, symptoms, diagnosis and treatment of hereditary hemochromatosis with an emphasis on the importance of early detection and treatment of the disease. Review methods: A thorough analysis of several dozen research studies from recent years on hereditary hemochromatosis and its complications was conducted. Studies available in PUBMED were reviewed, the following keywords were used to search for sources: hemochromatosis; iron; hepcidin; phlebotomy; deferoxamine; therapeutic erythrocytapheresis. Conclusion: Hereditary hemochromatosis is a disease that in most patients runs a covert course. If unrecognized and untreated, it carries many life-threatening complications.

Keywords

• hemochromatosis
• iron
• hepcidin
• phlebotomy
• deferoxamine
• therapeutic erythrocytapheresis