Question:
My 26-year-old DS son was recently diagnosed with stage 3 fibrosis. He has autoimmune hepatitis and non-alcoholic fatty liver disease. Are there doctors who specialize in treating Down Syndrome patients with this condition? If so, are any of them in the PNW?
Answer:
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. Autoimmune hepatitis and non-alcoholic fatty liver disease are conditions that are more common in people with Down syndrome and can contribute to liver disease. Additional information about liver fibrosis can be found in this resource.
When individuals with Down syndrome have liver fibrosis, we refer them 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 a hepatologist or gastroenterologist who is an expert in treating liver disease specifically in people with Down syndrome. At our clinic, we have referred a number of individuals with Down syndrome and liver disease to gastroenterologists who now have experience in treating liver disease in people with Down syndrome specifically. Other Down syndrome clinics may have done the same. We recommend reviewing a list of Down syndrome clinics on one of the websites of national Down syndrome organizations such as National Down Syndrome Society, Global Down Syndrome Foundation, or National Down Syndrome Congress. If there is a clinic near you, you may want to consider asking them if they have a specialist they regularly refer to. Similarly, you may find a recommendation from your local Down syndrome organization or parent group.