Ieva Mažeikaitė, Dalius Banionis, Sigitas Laima, Algimantas Jasulaitis
Abstract
Hemochromatosis (also called iron overload or iron storage disease) is the disease which is characterised by organ (especially liver, also, pancreas, heart, joints, bones, hypophysis, skin and nails) lesion because of iron overload in the system. Hereditary hemochromatosis is one of the most common genetic disorder in Caucasians. In the Northern Europe population, 1 of 220-250 is identified. Primary hemochromatosis is a disease inherited in an autosomal recessive way, usually related to HFE gene. The course of primary hemochromatosis till midlife (40-60 years) is asymptomatic. The triad is characteristic to hemochromatosis: liver cirrhosis, diabetes and skin hyperpigmentation. Lesion of cardiomyocytes arouses heart deficiency and can cause sudden death. Usually, the disorder is diagnosed accidentally – after diagnosing the enlarged iron concentration in blood serum and after the emergence of severe, sometimes deadly complications. Having the hereditary hemochromatosis, enlarged serum ferritin and transferrin saturation are diagnosed. Hereditary hemochromatosis can be diagnosed by genetic examination – finding of HFE gene and C282Y, H63D mutations. The main principle of hemochromatosis treatment is reducing the toxic effect of iron. Treatment of primary hemochromatosis is flebotomy (removing blood). Those patients, for whom flebotomy is counter-indicated or who do not tolerate this method of treatment, have medication treatment applied – with chelates, liver transplantation is rarely performed. This article presents the analysis of the clinical case of the patient, who had sudden death and final diagnosis was determined only after performing autopsic investigation, and the review of hemochromatosis epidemiology, etiology, clinical symptoms, the newest recommendations for diagnostics and treatment.
Keyword(s): iron overload; iron storage disease; sudden death; autopsy.
DOI: 10.5200/sm-hs.2016.027
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