Fibrosis of the liver can be thought of as a "scar" in the liver that results from chronic liver injury. It is similar to scarring that may form on the skin or in the lung or other organs.
Individuals with Down syndrome may be more susceptible to liver fibrosis because some conditions that contribute to or cause liver fibrosis are more common in people with Down syndrome. These include fatty liver, autoimmune liver disease, and celiac disease. Other conditions that can cause liver disease include chronic alcohol consumption, viral hepatitis, schistosomiasis (a parasitic infection that is caused by a flatworm that is not found in the United States), and chronic use of medications that affect the liver.
There may be no symptoms of fibrosis, particularly early in the disease. Some individuals will note fatigue, malaise, or vague abdominal discomfort. The first indication is often an abnormality found on blood tests that check liver function. There are several blood tests that can become abnormal in liver disease including alanine transaminase (ALT), aspartate aminotransferase (AST), albumin, and bilirubin, among others. These may be done as part of routine labs that many of us get at annual physicals. Sometimes, there will be findings from a physical exam; however, that most often occurs later in the disease process.
Further evaluation will usually include a thorough history and physical, additional blood work, liver ultrasound, and additional testing as indicated by initial testing results. A liver biopsy may also be considered.
When fibrosis of the liver is diagnosed and the cause is discovered, the goal of care is to reduce the fibrosis (fibrous regression). It is important to address the fibrosis to prevent it from progressing to the point at which it can no longer be reduced. When that happens, cirrhosis of the liver (irreversible liver damage) can develop.
Approaches to limit or prevent the disease include:
-
Screen for hepatitis C. Hepatitis C can cause chronic liver disease. The United States Preventive Services Task Force recommends that all adults be screened for hepatitis C.
-
Consider vaccination for viral hepatitis A and/or B (if the person does not have immunity).
-
Monitor for symptoms of gall bladder disease. If there are symptoms, assess for it and consider whether it is contributing to liver disease and needs treatment.
-
Avoid alcohol.
-
Work to get to and maintain a healthy weight.
-
Consider avoiding medications that can affect the liver such as acetaminophen (Tylenol).
-
Follow a gluten-free diet if celiac disease is present.
For specific treatments, we refer to a hepatologist (a specialist who diagnoses and treats liver disorders) or a gastroenterologist who has a focus on treating the liver. We are not aware of any particular features or approaches to treating liver disease that are specific to people with Down syndrome.
Additional Information
The Progression of Liver Disease (Liver Foundation)
Down Syndrome and Pediatric Nonalcoholic Fatty Liver Disease (Journal of Pediatrics)
Autoimmune Hepatitis in Down Syndrome (Down Syndrome Research and Practice)
Liver Function Tests (Mayo Clinic)
Hepatitis C Screening Recommendation (US Preventive Services Task Force)