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Autopsy relevance determining hemochromatosis: Case report
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 ma...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728853/ https://www.ncbi.nlm.nih.gov/pubmed/29245238 http://dx.doi.org/10.1097/MD.0000000000008788 |
Sumario: | 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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