Hepreassa

Hepreassa is a rare and complex genetic disorder characterized by the absence of the liver, a condition known as hepatomegaly. It is caused by mutations in the HNF1B gene, which is responsible for the development and function of the liver. Individuals with hepreassa typically present with symptoms such as jaundice, abdominal pain, and liver failure. The disorder is often diagnosed in infancy or early childhood, and the prognosis is generally poor due to the lack of a functional liver. Treatment options are limited and primarily focus on managing symptoms and supporting liver function. Hepreassa is a rare condition, with fewer than 100 cases reported worldwide. Research into the disorder is ongoing, with a focus on understanding the genetic basis of the disease and developing potential therapies.