Neonatal Hemochromatosis

Hereditary hemochromatosis is a common autosomal recessive disorder that results in excessive iron deposition in the liver as well as in extrahepatic sites. Symptoms related to hepatic insufficiency, cardiac dysfunction, or endocrinological abnormalities usually present between 40 and 60 years of age. Involvement in adults who are younger than 30 years is uncommon and in children has only rarely been reported.^1–3

Neonatal hemochromatosis (NH), also known as neonatal iron storage disease, is a phenotypically similar disorder; however, its extremely early onset of liver failure makes it notably unique. NH originally was described in 1957,⁴ and >100 cases have been reported. Liver failure in the first 30 days of life is uncommon; neonates represent <2% of children who are listed for liver transplantation,⁵ but of these few patients, NH may be one of the most common causes of liver failure. Despite lack of clear cause and pathogenesis and the possibility that it is not a primary disease state, the syndrome of NH now is widely recognized and universally found to have an aggressive course and carry a poor prognosis.

This article discusses the most common clinical presentation as well as less-common clinical associations. Genetic inheritance and theories that pertain to abnormal iron metabolism versus NH as the final pathway of multiple possible in utero insults also are reviewed. Methods of diagnosis, liver histology, and treatment and prognosis are discussed.