A “Mix and Match” in Hemochromatosis—A Case Report and Literature Focus on the Liver

Abstract

Hemochromatosis is a genetic disorder characterized by increased iron storage in various organs with progressive multisystemic damage. Despite the reports dating back to 1865, the diagnosis of hemochromatosis poses a challenge to clinicians due to its non-specific symptoms and indolent course causing significant delay in disease recognition. The key organ that is affected by iron overload is the liver, suffering from fibrosis, cirrhosis or hepatocellular carcinoma, complications that can be prevented via early diagnosis and treatment. This review aims to draw attention to the pitfalls in diagnosing hemochromatosis. We present a case with multiorgan complaints, abnormal iron markers and a consistent genetic result. We then examine the relevant literature and discuss hemochromatosis subtypes and liver involvement, including transplant outcome and treatment options. In summary, hemochromatosis remains difficult to diagnose due to its symptom heterogeneity and rarity; thus, further education for practitioners of all disciplines is useful in facilitating its early recognition and management.

A Rare Case of Heterozygous C282Y Mutation Causing Hereditary Hemochromatosis With Acute Pancreatitis

“…Since HH is an autosomal recessive disease, it is expected that patients affected by the disease should be homozygous for the gene mutation [ 6 ]. The most current classification of HH was according to the molecular pattern published in 2022 by BIOIRON, which broke down HH into four subtypes [ 7 ]. These subtypes included: 1.…”