Metabolic liver disease has signs and causes.
When a child shows signs of metabolic liver disease, doctors should ensure they have the correct diagnosis. Sometimes it’s hard to tell what’s wrong because the symptoms aren’t always apparent. But specific lab tests can show abnormalities, such as high levels of liver enzymes. To be sure of the diagnosis, a liver biopsy may be needed. As soon as possible after getting sick, these tests should be done. In Table 32–4, you can find a list of the recommended screening tests for metabolic liver disease.
If a patient has cholestasis, jaundice, a disease that worsens, or a regression of developmental milestones, they should be checked for metabolic liver disease. Serum aminotransferase levels that are too high, ascites, and a more significant liver are also signs. A liver biopsy can also rule out other causes of the disease, find storage diseases, and track the activities of certain enzymes.
The metabolic liver disease comes in three main forms. Type 1 primary hyperoxaluria (AR) is marked by the buildup of oxalate crystals throughout the body. This disorder is caused by not having enough of an enzyme in the liver called alanine glyoxylate aminotransferase. This disease causes severe kidney failure, heart disease, and a weakening of the bone marrow.
Metabolic liver disease is also often caused by genetic problems with the liver. If you don’t treat these conditions, they can lead to liver cancer and cirrhosis if you don’t. Hereditary hemochromatosis (HD), Alpha-I antitrypsin deficiency (ALT), and Wilson disease are the metabolic liver diseases that happen most often (WLD). Most of the time, metabolic liver disease is easy to spot, and blood tests are a great way to be sure.
A promising way to treat people with metabolic liver disease is through genetic therapy. Scientists think this treatment can fix metabolic disorders without giving the patient a new liver. A recent study in the journal Science Translational Medicine found that gene therapy can effectively treat a metabolic disorder without needing a transplant.
Genetic and metabolic diseases of the liver often cause several symptoms, such as tiredness, pain, bloating, and yellow skin. Patients may have problems in other parts of their bodies as well. Symptoms can get better with lifestyle changes and medicine. For example, not drinking can help people with fatty liver disease.
A liver-lung transplant is another option. Some people with end-stage kidney disease and liver failure are helped by this method. A liver-lung transplant is possible, but it doesn’t happen often. It may also keep the kidneys healthy, in addition to the liver. But there are a lot of risks that come with getting a liver transplant.
Nonalcoholic fatty liver disease is a severe disease in which the liver has too much fat. Every year, it affects about 150 million people in the United States. The Liver Metabolism and Fatty Liver Program at Penn Medicine is a complete way to find out what’s wrong with your liver and how to treat it. Its team of liver specialists knows how to treat both fatty liver disease caused by drinking and not drinking.
Alpha-I antitrypsin deficiency and Wilson’s disease are two types of metabolic liver disease. Most cases of this disease can be treated, but some can cause damage that can’t be fixed. A person needs to get treatment if they want to live a healthy life. So, it’s essential to take the right approach. It is also important to know that there are different ways to treat metabolic liver disease depending on what caused it and how far along it is.
Depending on how bad the disease is, patients should get blood tests and imaging tests to check on the health of their livers. Liver enzymes and the international normalized ratio (INR) are two standard lab tests to check how well the liver works. If a patient’s INR levels aren’t normal, it’s a sign that their liver isn’t working well. Damage to the liver and tumors can also be seen on imaging tests.
Patients with AR may also have damage to organs other than the liver. For example, the toxic metabolites of propionic acid can do a lot of damage to the central nervous system and muscle cells. About 1 in 100,000 people have propionic acidemia, which is treated by giving the person oral antibiotics and unique nutritional formulas. But this treatment option might not be enough to fix the problem completely. So, LT’s goal is to improve the patient’s life.
