Title Autopsy relevance determining hemochromatosis: case report /
Authors Chmieliauskas, Sigitas ; Banionis, Dalius ; Laima, Sigitas ; Andriuškevičiūtė, Gerda ; Mažeikienė, Sandra ; Stasiūnienė, Jurgita ; Jasulaitis, Algimantas ; Jarmalaitė, Sonata
DOI 10.1097/MD.0000000000008788
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Is Part of Medicine.. Baltimore : Wolters Kluwer Health, Inc.. 2017, Vol. 96, no 49, Art. no e8788, [p. 1-4].. ISSN 0025-7974. eISSN 1536-5964
Keywords [eng] forensic medicine ; hemochromatosis ; iron storage disease ; pathology
Abstract [eng] Rationale: Hemochromatosis is a disorder, associated with an abnormal accumulation of iron leading to toxic organ damage. Clinical symptoms develop during a long period of time, thus, determining accidental or late diagnosis, usually when complications are evident. Patient concerns: A 53-year-old man was brought to the emergency unit with symptoms of hypovolemic shock without any apparent cause, which ultimately led to multiple organ failure, severe metabolic acidosis. Diagnoses: The final diagnosis of hemochromatosis was determined after the autopsy. Interventions: Abnormal findings included a black-grayish pancreas, without any surrounding tissue reaction, and a dilated congestive cardiomyopathy. Histological findings revealed significant hemosiderin deposits in the internal organs, which were more distinct in the pancreas, liver, and kidneys. Outcomes: Patient death in less than 12 hours. Lessons: The necessity of a genetic examination after the autopsy, regarding this case was undeniable, especially focusing on the first-degree relatives, helping to diagnose and prescribe an adequate and early treatment.
Published Baltimore : Wolters Kluwer Health, Inc
Type Journal article
Language English
Publication date 2017