Causes and Symptoms of Metabolic Liver Disease

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When a child presents with symptoms of metabolic liver disease, the correct diagnosis must be made with care. Symptoms may lack specificity, making diagnosis challenging. Laboratory tests may reveal abnormalities, such as elevated liver enzymes. A liver biopsy may be needed to confirm the diagnosis. These tests should be performed as early in the illness as possible. Table 32-4 lists the recommended screening tests for metabolic liver disease.

Patients who develop cholestasis, jaundice, progressive neuromuscular disease, or regression of developmental milestones should be evaluated for metabolic liver disease. Ascites and hepatomegaly are additional symptoms. In addition, a liver biopsy can be performed to rule out other causes of the disease, detect storage diseases, and monitor the activity of specific enzymes.

There are three primary metabolic liver diseases. Primary hyperoxaluria (AR) type 1 is characterized by systemic oxalate crystal deposition. This condition is caused by a liver enzyme deficiency known as alanine glyoxylate aminotransferase. This disease causes severe kidney failure, cardiovascular disease, and suppression of bone marrow.

Inherited liver disorders are also a common cause of metabolic liver disease. If left untreated, these conditions can lead to liver cancer and cirrhosis. Hereditary hemochromatosis (HD), Alpha-I antitrypsin deficiency (ALT), and Wilson disease are the three most prevalent metabolic liver diseases (WLD). The diagnosis of metabolic liver disease is frequently straightforward, and blood tests are an excellent method for confirming the condition.

Genetic therapy is a promising treatment option for metabolic liver disease patients. According to scientists, this treatment can correct metabolic disorders without needing a liver transplant. A recent study published in Science Translational Medicine discovered that gene therapy could effectively treat metabolic disorders without needing a transplant.

Symptoms of genetic/metabolic diseases of the liver frequently include fatigue, pain, bloating, and jaundice. Patients may also experience complications in other areas of the body. Changes in lifestyle and medications can help alleviate symptoms. For example, abstinence from alcohol can aid in managing fatty liver disease.

A second option is a liver-lung transplant. Some patients with end-stage kidney disease and liver failure benefit from this method. A liver-lung transplant is possible but uncommon. In addition to protecting the liver, it may also protect the kidneys. However, there are numerous risks associated with a liver transplant.

Nonalcoholic fatty liver disease is a severe condition marked by increased liver fat. It affects roughly 150 million people annually in the United States. Penn Medicine's Liver Metabolism and Fatty Liver Program provide a comprehensive approach to diagnosing and treating metabolic liver disease. Its liver specialists have extensive experience treating alcoholic and nonalcoholic fatty liver disease.

Alpha-I antitrypsin deficiency and Wilson's disease are two examples of metabolic liver diseases. While most cases of this disease are curable, some can cause irreversible damage. A patient must receive treatment to live a healthy life. Therefore, the appropriate strategy is essential. It is also essential to realize that treatment options for the metabolic liver disease vary depending on the disease's causes and progression.

To monitor the liver's health, patients should undergo blood tests and imaging tests, depending on the severity of their condition. The international normalized ratio (INR) and liver enzymes are standard laboratory tests to evaluate liver function. Abnormal INR levels indicate that a patient's liver function is compromised. Additionally, imaging tests can detect liver damage and tumors.

Patients with AR may also experience damage to organs other than the liver. For example, the central nervous system and myocytes are susceptible to damage from propionic acid's toxic metabolites. Propionic acidemia affects approximately one in one hundred thousand individuals, and its treatment involves the administration of oral antibiotics and specialized nutritional formulas. However, it is possible that this treatment will not completely cure the condition. Consequently, LT seeks to enhance the patient's quality of life.

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