A number of metabolic conditions involve the liver and can cause chronic liver disease like Cirrhosis of the Liver or Liver Cancer. The three most common metabolic liver diseases are:
Hemochromatosis - This is a genetic disorder in which the body absorbs and stores too much iron. Excess of iron can also occur due to overdose of iron supplements. This excess iron gets deposited in the Liver and can cause Cirrhosis of the Liver.
Alpha-I antitrypsin deficiency (AATD) - This is a rare genetic disorder in which the body makes large amounts of an abnormal protein which gets accumulated in the liver. This can cause liver damage and scarring which may give rise to chronic hepatitis, cirrhosis or liver cancer.
Wilson Disease - This is another rare genetic disorder in which copper gets deposited in the Liver, Brain, Eyes and other organs. This can cause Cirrhosis or Liver Cancer.
Diagnosis - The primary diagnosis of Metabolic Liver Disease is done on an ultrasound scan of the abdomen. Ultrasound would show fatty liver. This is followed by blood tests like Liver Function Tests, Iron Studies, Serum Copper, Lipid Profile, CBC, Viral Markers - Hepatitis B, C or D, Kidney Function Test, PT-INR etc. Advanced Imaging tests like Ultrasound / CT / MRI / Liver Elastography are done to measure the extent of Cirrhosis in the Liver. Liver Biopsy is the most definitive diagnostic test for Cirrhosis but has some risk associated with it. The emergence of non-invasive imaging modalities has reduced the utility of Liver Biopsy and many Liver Specialists are averse to doing this test. The main reason behind avoiding Liver Biopsy is the Risk Benefit analysis.
Complications - The complications of the Metabolic Liver Disease are the same as those of the Alcoholic or Non-Alcoholic Liver Disease. All these diseases cause fatty liver or Liver Cirrhosis which reduces the normal functioning of the Liver.
Patients suffering from Iron overload can get therapeutic phlebotomy in which excess iron is removed from the blood.
There is no cure for AATD. Treatment focuses on reducing the complications of the associated chronic liver disease. Patients with AATD are advised not to smoke tobacco or drink alcohol. For adults with end-stage liver disease due to AATD, liver transplantation is sometimes an option.
For Wilson Disease your doctor and dietician work in tandem to reduce dietary intake of copper. This may include avoiding foods such as shellfish, mushrooms, nuts and chocolate. Other treatment may include medications to enhance the excretion of copper from the body. A liver transplant may be necessary in patients with acute liver failure or when cirrhosis leads to liver failure.
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