| Abstract | Hemokromatoza je bolest obilježena pretjeranim nakupljanjem željeza u parenhimskim organima s posljedičnim oštećenjem tih organa. Primarna (hereditarna) hemokromatoza je najčešća metabolička genetska bolest u Europi. Najčešći oblik bolesti je tip 1 koji nastaje zbog homozigotne C282Y ili složene heterozigotne C282Y/H63D mutacije HFE gena. Ostale tipove hereditarne hemokromatoze uzrokuju mutacije gena HJV, HAMP, TRF2 i SLC40A1. Sekundarna hemokromatoza nastaje zbog nasljednog ili stečenog poremećaja eritropoeze te kao posljedica liječenja tih poremećaja kroničnim transfuzijama krvi. Kliničke manifestacije hemokromatoze su varijabilne, a bolest može biti dugo asimptomatska. Prvi simptomi se najčešće javljaju između 40. i 50. godine kada nastupa oštećenje jetre, srca, gušterače, hipofize, zglobova i spolnih organa, te se očituju umor, hepatomegalija, hiperpigmentacija kože, kardiomiopatija, aritmije, bolovi u zglobovima, šećerna bolest tipa 2, hipogonadizam i u težim oblicima ciroza jetre. Povišena vrijednost feritina i saturacija transferina >45% je indikacija za genetsko testiranje na najčešće mutacije koje uzrokuju hereditarnu hemokromatozu. Magnetska rezonanca se koristi za potvrdu dijagnoze i procjenu količine željeza u organima. Pacijente s cirozom jetre potrebno je redovito kontrolirati kako bi se prevenirale komplikacije te dijagnosticirao hepatocelularni karcinoma u ranom stadiju. Hereditarna hemokromatoza se liječi terapijskim venepunkcijama a sekundarna hemokromatoza kelatorima željeza. Preživljenje bolesnika s hemokromatozom bez razvijene ciroze jetre je isto kao u općoj populaciji, a smanjeno ako imaju cirozu jetre. Cilj ovog rada je sažimanje smjernica i pregledna sinteza spoznaja o epidemiologiji, etiopatogenezi, kliničkoj slici, dijagnostici te liječenju primarne i sekundarne hemokromatoze. |
| Abstract (english) | Hemochromatosis is a disease characterized by excessive accumulation of iron in parenchymal organs, resulting in organ damage. Primary (hereditary) hemochromatosis is the most common metabolic genetic disease in Europe. The most common form of the disease is type 1, which occurs due to homozygous C282Y or compound heterozygous C282Y/H63D mutations in the HFE gene. Other types of hereditary hemochromatosis are caused by mutations in the HJV, HAMP, TRF2, and SLC40A1 genes. Secondary hemochromatosis occurs due to inherited or acquired disorders of erythropoiesis, as well as a result of treatment for these disorders with chronic blood transfusions. The clinical manifestations of hemochromatosis are variable, and the disease can be asymptomatic for a long time. The first symptoms usually appear between the ages of 40 and 50 when liver, heart, pancreas, pituitary gland, joint, and sexual organ damage occurs. Symptoms include fatigue, hepatomegaly, skin hyperpigmentation, cardiomyopathy, arrhythmias, joint pain, type 2 diabetes, hypogonadism, and, in severe cases, liver cirrhosis. Elevated ferritin levels and transferrin saturation >45% indicate the need for genetic testing for the most common mutations causing hereditary hemochromatosis. Magnetic resonance imaging is used to confirm the diagnosis and assess the amount of iron in the organs. Patients with liver cirrhosis need regular monitoring to prevent complications and detect hepatocellular carcinoma at an early stage. Hereditary hemochromatosis is treated with therapeutic phlebotomies, while secondary hemochromatosis is treated with iron chelators. The survival of patients with hemochromatosis without liver cirrhosis is the same as in the general population but reduced if they have liver cirrhosis. The aim of this paper is to summarize the guidelines and provide an overview of the epidemiology, etiopathogenesis, clinical presentation, diagnosis, and treatment of primary and secondary hemochromatosis. |
