Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chmieliauskas, Sigitas, Banionis, Dalius, Laima, Sigitas, Andriuskeviciute, Gerda, Mazeikiene, Sandra, Stasiuniene, Jurgita, Jasulaitis, Algimantas, Jarmalaite, Sonata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
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
Descripción
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.