pediatric metabolic liver disease

WHAT IS METABOLIC LIVER DISEASE?

Metabolic Liver Disease is a group of metabolic disorders that stops the liver to function or fail. These metabolic conditions affect the pathways in the liver cells – the pathways that help the body break down, absorb, process, transport, and store nutrients like amino acids, carbohydrates and fats.

Several metabolic conditions involve the liver and can cause chronic liver disease that could lead to liver cirrhosis and liver cancer. The three most common of these metabolic disorders involving the liver are:

1. Hereditary Hemochromatosis
2. Alpha-1 Antitrydsin Deficiency (AATD), and
3. Wilson’s Disease

1. HEREDITARY HEMOCHROMATOSIS

Hereditary Hemochromatosis, also known as iron overload disease, is a genetic disorder in which the child’s body absorbs and stores too much iron that it actually should. In this disorder, the iron builds up slowly in the joints and other organs, such as the liver, heart, brain, pancreas and lungs. As the child grows up, this can cause liver cirrhosis, diabetes, heart disease, joint pain and other problems. The iron overload can be diagnosed with simple blood tests.

2. ALPHA-1 ANTITRYPSIN DEFICIENCY (AATD)

AATD is an inherited genetic disease in which the tissue in the liver or the lungs get damaged and prevents them from functioning properly. In this disorder, the body makes large amounts of an abnormal protein that gets accumulated in the liver resulting in liver damage and scarring.

3. WILSON’S DISEASE

This is another rare genetic disorder where copper accumulates in the liver, brain, eyes and other organs and can result in acute liver failure or liver cirrhosis.

WHAT CAUSES METABOLIC LIVER DISEASE?

Each metabolic disorder has its own genetic cause and more than one abnormal gene could be responsible for the disorder. Metabolic liver disease occurs when a pathway in the liver gets blocked or misses a step as it breaks down a nutrient. An abnormal gene is responsible for this missing step. Because of this missing step, a toxic substance builds up and the body fails to produce cellular energy. This damages the liver cells and eventually damages the liver preventing it from functioning properly.

WHAT ARE THE SIGNS & SYMPTOMS OF METABOLIC LIVER DISEASE?

Children suffering from metabolic liver disease can show a variety of symptoms. Most of the symptoms are because of liver damage and can include the following symptoms:

• Severe itching
• Jaundice
• Difficulty in gaining weight
• Low blood sugar levels
• Fat-soluble vitamin deficiencies – there are four fat-soluble vitamins in the human diet viz. Vitamins A, D, E and K.
• Scarring of the liver
• Fatigue
• Swelling, bruising or bleeding that cannot be explained
• Abdominal pain

HOW IS METABOLIC LIVER DISEASE DIAGNOSED?

Metabolic liver disease in children is diagnosed by testing the child’s blood and urine. Abdominal imaging or a liver biopsy might also be used to confirm the diagnosis. Also, your child’s pediatric gastroenterologist may also perform a genetic test for final confirmation.

HOW IS METABOLIC LIVER DISEASE TREATED?

The treatment of metabolic liver disease is all about managing the metabolic disorders and controlling the symptoms.

For Hereditary Hemochromatosis, the pediatric gastroenterologist does a procedure called Therapeutic Phlebotomy. The procedure is used to remove excess iron and maintain normal body iron stores.

For AATD unfortunately, there is no cure yet. The treatment focuses on reducing complications of the associated chronic liver disease.

For Wilson’s Disease, the pediatric gastroenterologist guides the child’s parents focus on reducing dietary intake of copper. Other treatment options may include medications to help the excretion of copper from the body.

For children whose liver gets severely damages, a liver transplant might be an option.