Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Polycystic kidney dysplasia||50%|
|Abnormality of the pancreas||7.5%|
|Elevated alkaline phosphatase||7.5%|
|Feeding difficulties in infancy||7.5%|
|Abnormality of the cardiovascular system||-|
|Abnormality of the nervous system||-|
|Autosomal dominant inheritance||-|
|Increased total bilirubin||-|
|Polycystic liver disease||-|
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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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