Open AccessJuvenile Hemochromatosis in an Asymptomatic Patient—Importance of Early Diagnosis
Author(s) -
Nashed Bola,
Fonseca Carolina,
Vander Pols William,
Kumar Sanjay,
Lyons Hernando,
Berman Brian,
Guzzardo Gianna M.
Publication year - 2022
Publication title -
jpgn reports
Language(s) - English
Resource type - Journals
ISSN - 2691-171X
DOI - 10.1097/pg9.0000000000000228
Subject(s) - asymptomatic , hemochromatosis , medicine , pediatrics , disease , intensive care medicine , cirrhosis , hereditary hemochromatosis , life expectancy , surgery , environmental health , population
Juvenile hemochromatosis is a rare inherited disorder of iron regulation leading to iron overload, which usually presents before the age of 30. One of the most serious clinical characteristics associated with early‐onset iron overload is liver disease with eventual cirrhosis, often associated with a reduced life expectancy even after treatment. This case report summarizes an asymptomatic pediatric patient with persistently elevated transaminase levels, which led to a diagnosis of juvenile hemochromatosis relatively early in the course of his disease. The aim of this case report is to increase awareness and stress the importance of early diagnosis and treatment, as it is vital to prevent life‐threatening complications and optimize patient outcomes. Consideration should be taken to recognize potential manifestations despite the rarity of the condition. Patients with signs of hepatocellular injury without explanation should prompt evaluation including consideration for iron overload after other common causes are ruled out.