Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy

Abstract

Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein, which regulates iron absorption. We report a case of JH and offer a concise review of the literature. A 14-year-old girl, with no secondary sexual characteristics, presented with abdominal pain, cough and dyspnoea. Clinical examination revealed right lower lobe consolidation, pleural effusion, cardiomegaly and an ejection fraction of 20%, with no response to treatment. On autopsy she was seen to have pleural and pericardial effusion, dilated cardiomyopathy, liver cirrhosis and pancreatic fibrosis. Prussian blue stain showed iron overload in these organs. JH with hypogonadism, cardiomyopathy and cirrhosis was diagnosed.