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Dr. Shailendra Lalwani

HOD & Senior Surgeon -
Liver Transplantation And Hepato-Pancraetic Biliary Surgery

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Other / Metabolic Diseases

What Is Metabolic Liver Disease?

The liver is the primary metabolic site of the body. Liver contains many enzymes which assist in carrying hundreds of metabolic reactions. Any disease in the liver affects the metabolic process and lead to metabolic disorders. These diseases are characterized by disruption of the body’s metabolism due to abnormal reactions in the liver. This may lead to either accumulation of toxic substances or deficiency of essential substances.

What Are The Various Types Of Metabolic Liver Diseases?

Following are some of the metabolic liver diseases:

Hereditary hemochromatosis: It is the condition characterized by increased iron accumulation in the body. This is a hereditary condition in which the body absorbs an increased amount of iron from food. This condition is present by birth but is not diagnosed until the person reaches the age of 50-60 years. In some cases, the disease is diagnosed at the age of 15 years to 30 years. This condition is termed as juvenile hemochromatosis.

Alpha-I antitrypsin deficiency: In this condition, the body synthesizes a large amount of proteinthat gets accumulated in the liver. The condition progresses to cause scarring and liver failure. A patient suffering from this condition have emphysema. This condition may also lead to liver cirrhosis, liver cancer or chronic hepatitis.

Wilson Disease: Wilson disease is characterized by the accumulation of copper in the body especially in liver, brain, and eyes. This is a genetic disorder. Wilson disease, in advanced stages, may lead to cirrhosis or liver failure. This disease reduces the ability of the body to remove extra copper. It not only increases the risk of liver damage but also has the potential to damage various other organs.

Crigler-Najjar Syndrome: This is a rare condition. In this condition, the concentration of bilirubin reaches toxic levels. This results in an accumulation of bilirubin in the brain and other nerve tissues. The untreated condition may lead to kernicterus, a form of brain damage.

Dubin-Johnson syndrome: This is a hereditary condition which passes on to the next generation. In this condition, Jaundice occurs in the people at the age of 12-17 years i.e. at adolescence.

Gilbert’s disease: Like Crigler-Najjar syndrome, this condition is also characterized by an increased level of bilirubin in the blood. Jaundice is the only symptom of this condition.

Gaucher’s disease: Accumulation of glucocerebroside, a type of sphingolipid, is the clinical presentation of Gaucher’s disease. The condition causes splenomegaly, hepatomegaly, and a low platelet count. The condition is caused due to deficiency of glucocerebrosidase.

Cystic fibrosis: Cystic fibrosis-associated liver disease causes a variety of symptoms related to the liver. The patient with this condition has elevated liver enzymes, neonatal cholestasis, hepatic steatosis, cholelithiasis, and cholecystitis.

Porphyria: Hepatic porphyria occurs due to the deficiency of an enzyme in the liver. Various types of porphyria are Acute intermittent porphyria, Porphyria cutanea tarda, and Hepatoerythropoietic porphyria, Hereditary coproporphyria, and Variegate porphyria

Hereditary tyrosinemia: Tyrosinemia is the condition characterized by the body’s inability to sufficiently break done tyrosine resulting in its accumulation.

What Is Autoimmune Liver Disease?

Autoimmune diseases are the diseases in which the immune cells of the body attack its organs and causes inflammation and damage. In autoimmune hepatitis, the immune system attacks the liver cells and causes inflammation. This may lead to liver damage. The condition required proper medical intervention, the absence of which may lead to liver cirrhosis.

What Is Fulminant Liver Failure?

In some cases, the functional capacity of the liver rapidly decreases leading to liver failure. This is known as fulminant liver failure. It develops in people who do not have any liver problem in the past or have a stable liver problem. It is caused due to paracetamol overdose, viral hepatitis, antibiotics, chemotherapy, and autoimmune disease.