| Abstract [eng] |
Hemochromatosis is an inherited metabolic disorder in which iron absorption is disrupted due to mutations in genes involved in iron homeostasis, resulting in the accumulation of iron in various organs and over time impairing their function. It is a genetically heterogeneous condition, and the most common cause of hemochromatosis is mutations in the HFE gene, which encodes the human homeostatic iron regulator. Hemochromatosis affects multiple organs, with the liver, heart and pancreas being the primary targets of iron accumulation. Increased iron concentration leads to the formation of toxic free radicals in the tissues. Cardiomyocytes, in particular, are highly susceptible to oxidative stress, which disrupts their normal function. Clinically, cardiac hemochromatosis typically presents as arrhythmias, cardiomyopathy or congestive heart failure. Early detection of the disease is challenging as the initial symptoms typically appear later in life and often are nonspecific. Hemochromatosis should be suspected in patients with a positive family history or characteristic laboratory changes. Early diagnosis, patient monitoring, and appropriate treatment help prevent severe organ damage complications. A clinical case of a 46-year-old man who presented with bothersome heart palpitations is reported. The patient was diagnosed with persistent atrial fibrillation and hemochromatosis type 1. Furthermore, a newly proposed definition of hemochromatosis is provided, and the clinical manifestation of the disease, the pathogenesis of hemochromatosis-induced heart damage, diagnosis, and treatment are discussed. |
