Liver disease has been strongly associated with one JS gene, namely TMEM67. Congenital hepatic fibrosis is prevalent in an estimated 14% of individuals with JS according to the 2019 article Healthcare recommendations for Joubert syndrome. Many individuals with JS experience chronically elevated liver enzymes, but never develop the more severe symptoms of hepatic fibrosis that require interventions. Make sure you check out the article mentioned previously and the short video from Dr. Theo Heller for more information about liver disease.
Your liver is the second largest organ in your body and is located in the upper right side of the abdomen. It helps convert food and drink into energy and nutrients your body can use. The liver removes harmful substances from your blood. It also breaks down old red blood cells and helps make substances that are involved in the clotting of blood.
Hepatic is the medical term for things related to the liver.
The spleen is an organ in the upper left side of the abdomen. The spleen acts as a filter for the blood as part of the immune system. Old red blood cells are recycled in the spleen. Platelets and white blood cells are stored in the spleen. The spleen also helps fight infection.
Splenomegaly is an enlargement of the spleen. The spleen becomes enlarged when it is overworked. In persons with JS, this may occur due to portal hypertension.
A gastroenterologist, or GI doctor, is a doctor who specializes in the study of digestive organs, including the liver.
A hepatologist is a doctor who specializes in the study of the liver.
Bile is a liquid produced in the bile duct of the liver to help break down fats and other nutrients.
Platelets are tiny blood cells that help your body form clots to stop bleeding. A clot is also called a thrombus; platelets are also called thrombocytes. Platelets are produced in the bone marrow.
Thrombocytopenia is a condition in which an individual has a low blood platelet count. There are many reasons that a person would have a low platelet count. In individuals with JS, thrombocytopenia can occur when platelets get ‘stuck’ in the spleen.
There are several enzymes that are found primarily in the liver. Liver function tests are blood tests that measure these enzymes and can be used to determine the health and function of the liver.
- Alanine aminotransferase (ALT) is an enzyme mainly found in the liver. Consistently high levels of ALT can be a sign of liver swelling or injury.
- Alkaline Phosphatase (ALP or Alk Phos) is an enzyme found in large amounts in your liver and bile. High levels of ALP can be indicate liver or bile duct damage.
- Aspartate Transaminase (AST) is another enzyme found in large amounts in the liver. High levels of AST can be a sign of liver damage.
- Lactic acid is mainly produced in muscle cells and red blood cells. It forms when the body breaks down carbohydrates to use for energy. Lactic acid is metabolized by the liver. Blood levels of lactic acid may be elevated with liver disease.
- When red blood cells get old, they are broken down. One of these broken-down pieces is called bilirubin. Bilirubin is excreted by the liver. Blood levels of bilirubin may be high as a result of liver disease.
- Lactate Dehydrogenase (LDH) is an enzyme that helps your body make energy. High LDH levels in the blood can indicate tissue damage.
Jaundice is the yellowing of the skin and sclera (white part) of the eyes caused by high levels of bilirubin in the blood.
Fibrosis is scarring of the liver. With fibrosis, the liver forms large amounts of scar tissue in an attempt to repair and replace damaged cells.
Cirrhosis is extensive scarring or fibrosis of the liver. This scarring of the liver can prevent the liver from functioning well. Cirrhosis can lead to portal hypertension.
Congenital hepatic fibrosis (CHF) is a disease of the liver that is present at birth. CHF is caused by abnormal development of the blood vessels in the liver and bile ducts. CHF is commonly seen in genetic syndromes.
Portal hypertension is high blood pressure within the liver’s blood vessels. Symptoms of portal hypertension can include low platelet levels, gastrointestinal bleeding, or the accumulation of fluid in the abdomen.
A transjugular intrahepatic portosystemic shunt (TIPS) is a procedure used to relieve portal hypertension. A stent is placed to reroute blood flow through the liver which decreases the portal hypertension.
Tips from our JS families
Robby’s liver numbers are now just outside the normal range, they are staying stable. He is being seen by a hepatologist. He gets regular blood work, semi-annual clinic visits, and daily medication to help his liver work more effectively. My most valued hint came from Dr. Heller. Track your child’s lab values in a graph form. You can see trends in values and watch for rising or falling of levels, even while they are still within the normal range. This allows you to start being proactive before things are ‘bad’.
From Nadine Phillips, mother of Robby, age 17
If your family has tips or a story to share about your JS journey and liver complications, please feel free to email us at firstname.lastname@example.org