Autopsy relevance determining hemochromatosis

نویسندگان

  • Sigitas Chmieliauskas
  • Dalius Banionis
  • Sigitas Laima
  • Gerda Andriuskeviciute
  • Sandra Mazeikiene
  • Jurgita Stasiuniene
  • Algimantas Jasulaitis
  • Sonata Jarmalaite
چکیده

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.

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عنوان ژورنال:

دوره 96  شماره 

صفحات  -

تاریخ انتشار 2017