Neonatal hemochromatosis

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at December 31, 2016
StartDiseasesNeonatal hemochromatosis

Neonatal hemochromatosis is a condition present in a small number of newborns which requires immediate treatment and an eventual liver transplant. It is a type of liver disease that develops around the time of birth. Some researchers refer to it as congenital alloimmune hepatitis. Neonatal hemochromatosis is also referred to as congenital hemochromatosis and neonatal iron storage disease.

Contents

Definition & Facts

Neonatal hemochromatosis is a condition marked by an excessive amount of iron collecting in the liver (hemochromatosis). While neonatal hemochromatosis is commonly referred to as a disorder, the etiology of the disease, which is unclear, renders it better classified as a syndrome.

The syndrome can cause extensive damage to internal organs and to the hepatic ducts of the liver. It affects babies around the time of birth. The condition is typically caused by an injury to the liver that happens during pregnancy.

Severe cases of neonatal hemochromatosis can lead to stillbirth. Infants who are born alive with this disorder typically present symptoms within 48 hours of birth, and the condition must be treated promptly to avoid life-threatening complications.

If the syndrome is identified during pregnancy, it is possible to treat it while the baby is still in utero. Doing so may reduce the severity of the syndrome and allow the infant to survive birth in order to receive medical treatment for the condition. Nonetheless, the prognosis for this condition is poor.

Symptoms & Complaints

This condition causes the liver to store away more iron than necessary, which results in the liver becoming damaged. The symptoms usually appear within 48 hours of birth, and if not treated quickly, life-threatening complications can develop.

This excessive amount of iron does not just accumulate in the liver; it can also deposit in other organs and in the skin and eyes, causing jaundice. Pain is common with the syndrome, especially if the ducts of the liver become clogged.

The symptoms and complaints may not immediately render a diagnosis of neonatal hemochromatosis; full diagnosis will likely involve a specialist.

Causes

The exact cause of neonatal hemochromatosis is not known. However, injury to the baby’s liver during pregnancy; genetic factors; and the mother’s previous pregnancies can help determine whether a fetus is at risk for developing the condition.

It is unclear how this condition is inherited. However, it appears to run in families. Mitochondrial disease may also play a role.

Diagnosis & Treatment

The initial symptoms can be detected in utero through lab tests, and the diagnosis can be confirmed through a magnetic resonance imaging (MRI).

Diagnosing neonatal hemochromatosis involves testing for excess iron deposits in tissues throughout the body. It may also involve testing a biopsied piece of liver tissue to determine the iron concentration, and the possibility of toxicity.

Blood tests are also done to determine iron concentration in the blood. Even if these tests do not show an excess amount of sustainable iron deposits, the diagnosis is not ruled out.

In a large number of diagnosed cases, hepatocytes, or the cells in the liver, are being destroyed rapidly and the liver tissue is necrotic. Unfortunately, the majority of cases are diagnosed during autopsy in stillborn infants.

Treatment & Therapy

Treatments and therapies for neonatal hemochromatosis are unfortunately limited. Treatment that is available includes antioxidant chelation cocktails, but is not always effective and the results of studies are dismal at best. High doses of immunoglobulin can be given to mothers who are still pregnant when diagnosis of the fetus is completed.

In severe cases, the only treatment for the syndrome is a liver transplant. Even though various treatments are available, the only cure for the syndrome is a liver transplant. While the reason for the results are unknown, studies have shown that after a liver transplant, iron deposits no longer develop in the liver.

If the wrong treatment is given, it is possible to trigger further injury, resulting in a terminal condition, especially if the mother is still pregnant. Treatment while the fetus is still in utero is very difficult and can result in fetal death or stillbirth. 

Prevention & Prophylaxis

Prevention of infant hemochromatosis involves diagnosis and treatment of the fetus before birth. This is extremely important due to the high risk of the baby being stillborn, or suffering through severe pain when their organs become solely responsible for their own body.

The syndrome repeats itself in siblings. Evidence of the disorder may be present on amniocentesis, and can be confirmed with an MRI.

Immunoglobulin can be administered through intrauterine injection. While the injection is not a cure for the disorder, it can decrease the symptoms and reduce the symptoms from a lethal form of the syndrome, to a non-lethal form.