People with changes in the TULP3 gene usually develop health problems that affect several major organs, mainly the liver, kidneys, and sometimes the heart. The disease tends to develop slowly, often beginning in childhood or early adult life, and gets worse over time.
Liver disease is the most common and often the first sign. Many people show abnormal liver blood tests early on. Some may develop jaundice (yellowing of the skin or eyes), itching, tiredness, or pain in the upper right side of the abdomen. As the disease progresses, the liver becomes scarred (fibrosis) and can lead to cirrhosis. Complications such as high blood pressure in the liver’s blood vessels (portal hypertension), enlarged spleen, and bleeding from swollen veins (varices) can occur. Some people eventually need a liver transplant.
Kidney involvement varies. Some people develop small cysts and scarring in the kidneys, while others have generally reduced kidney function. Kidney disease usually develops more slowly and may not appear until adulthood. A few individuals develop kidney failure and need dialysis or a kidney transplant.
The heart can also be affected later in life. Some adults develop thickening of the heart muscle (hypertrophic cardiomyopathy), which can cause shortness of breath, chest pain, or irregular heartbeats. Scarring of the heart muscle has been seen on heart scans in some affected people.
Overall, the main clinical features of TULP3-related disease are slowly progressive scarring of the liver, fibrosis and cysts in the kidneys, and in some adults, thickening and scarring of the heart muscle.
TULP3