Causes and Risks for Polycystic Liver Disease

Causes and Risks for Polycystic Liver Disease

Polycystic liver disease, also known as PCLD or simply PLD, is considered rather rare, affecting only 1 in every 100,000 individuals. Polycystic liver disease can grow in independant, or lone cysts, in various areas of the liver. However, it most often develops in clusters of fluid filled sacs, or cysts, which take on the appearance of a bunch of grapes, within the liver. These cysts can range in size from a few millimeters and up to 15-centimeters in diameter.

PLD often does not cause symptoms so patients can live with the disease unaware for many years. In fact, only a mere 1 in 10 patients with PLD experience clear symptoms, according to the National Organization for Rare Disorders. However, if a single cyst grows too large or cysts grow enmass, they can cause symptoms of abdominal pain, liver or abdominal swelling, swelling of the liver (or hepatomegaly) uncomfortable bloating or fullness in the abdomen, breathlessness, bile duct obstruction and associated jaundice, infection, and bleeding cysts.

Patients with PCLD tend to be diagnosed at 50-years old, on average, or older. However, there are several common causes and risk factors for PLD, including:

1. Genetics
The majority of people with PLD inherit the disease from one or more parents. For instance, one parent must pass along a single copy of one of these 3 mutated genes (LRP5, SEC63, and PRKCSH) for PLD causing cysts to develop in their child. The risk of inheriting an abnormal gene from a parent is approximately 50% in both male and female offspring, even though women are slightly more prone to PLD compared to men.

2. Advanced age
Most OLD patients aren’t diagnosed until after age 50-years old. PLD is not considered life threatening, so cysts can go undetected until they become large enough to cause painful symptoms (i.e., bleeding cysts and enlarged liver), and the liver can continue to function well with cysts.

3. Polycystic kidney disease
Yale research indicates that PLD is very common in older patients who also suffer from
polycystic kidney disease (or PKD), which is due to the same disease process, but in this case in the kidneys. However, while patients with PKD can suffer kidney failure, patients with PLD often don’t suffer liver failure.

4. Presence of cysts in the liver
Doctors often diagnose patients with PLD after an imaging test (i.e., CT scan, MRI, or ultrasound), in the following scenarios:
Patient is over age 40, has no family history of PLD, but has greater than 20 cysts.
Patient is under 40-years old, has a family history of PLD, and has more than 1 cyst.
Patient is over 40-years of age, has a family history of PLD, and has more than 3 cysts.