About Polycystic Liver Disease
Polycystic liver disease (PLD) happens when many fluid-filled sacs, called cysts, develop in the liver. These cysts form due to changes in how the liver’s bile ducts develop. The condition involves some complex processes in the body, like how proteins are handled and how liver tissue can get scarred.
There are some non-modifiable factors that can’t be changed or controlled that increase the risk of developing PLD, including:
- Age: Increasing age is a significant risk factor for developing PLD. As individuals get older, the likelihood of developing cysts in the liver increases.
- Inherited genetic mutations: PLD is typically an inherited disorder, with parents passing on the genetic mutation to their children. Some genes linked to PLD include PRKCSH, LRP5, and SEC63. However, other genes are likely involved as well.
- Gender: Females are six times more likely than males to have symptoms and severe disease. This might be linked to estrogen, a hormone that is more common in females, which could help cysts grow
- Polycystic Kidney Disease (PKD): People with PKD, another inherited condition, might also develop liver cysts.
It is generally recommended to maintain a healthy weight, engage in physical activity, and follow a healthy diet to reduce the risk of various liver diseases. These lifestyle factors may have a positive impact on PLD.
Polycystic Liver Disease (PLD) often causes no symptoms, especially in children. However, as the disease progresses or reaches higher severity, the following symptoms may occur:
Early symptoms:
- Enlarged abdomen: The most common early symptom of PLD is an enlarged stomach due to the growth and multiplying of cysts in the liver.
Later stage symptoms:
- Abdominal distention: As PLD progresses, swelling or bloating in the abdomen can occur.
- Abdominal pain: Some individuals with PLD may feel pain in their abdomen.
- Early satiety: People may feel full quickly after eating only a small amount of food.
- Weight loss: Unintentional weight loss might happen in later stages of the disease.
- Nausea and vomiting: Some individuals may experience feelings of nausea and may vomit.
- Shortness of breath: In some cases, difficulty breathing can be a sign of more advanced PLD.
Additionally, high blood pressure in the vein that leads to the liver (portal hypertension) and the development of swollen veins in the esophagus (esophageal varices) are extremely rare, but they can happen if cysts form in certain areas. Remember to consult with your healthcare professional for a proper diagnosis and treatment plan.
To diagnose PLD, healthcare providers commonly perform the following examinations, tests, and procedures:
- Physical exam: The healthcare provider will look for physical signs such as pain, swelling, or the presence of masses in the abdomen.
- Imaging tests: These tests help visualize the liver and detect cysts. Common imaging tests include:
- Magnetic resonance imaging (MRI)
- Computed tomography (CT) scan
- Ultrasound
- Blood tests: These tests can reveal markers for liver disease, such as elevated levels of gamma-glutamyl transferase (GGT) and alkaline phosphatase (ALP).
To determine the stage or severity of PLD, additional examinations, tests, and procedures may be recommended:
- Genetic testing: This test looks for gene mutations associated with PLD and can help confirm the diagnosis.
- Monitoring imaging tests: Regular imaging tests may be ordered to track the growth and progression of liver cysts.
It's important to consult with your healthcare provider for a personalized diagnosis and to discuss which examinations, tests, and procedures are most appropriate for your situation.
The goals of treatment for Polycystic Liver Disease (PLD) are to relieve symptoms, improve overall quality of life, and slow down the progression of the disease. Here are the different treatment options and how they work towards these goals:
- Medication: Medications like octreotide and lanreotide, which are given as injections, might slow the growth of cysts or reduce the amount of fluid and the size of the liver. These aim to ease symptoms and improve quality of life, but how well they work, and their safety can vary from person to person.
- Aspiration sclerotherapy: This is a less invasive treatment for large, single cysts. A surgeon uses a needle, guided by ultrasound, to drain the cyst and then applies chemicals to destroy the cyst's wall. This reduces the size of the cyst and liver, which helps relieve symptoms.
- Laparoscopic fenestration (keyhole surgery): In this surgery, one or more cysts are drained, and the remaining cyst structures are removed. It’s used to reduce symptoms caused by enlarged liver.
- Liver resection: If cysts that cause symptoms are clustered in one area of the liver, a doctor may recommend removing that part of the liver. This procedure effectively reduces symptoms caused by an enlarged liver.
- Liver transplant: In severe cases, where symptoms are very disabling, replacing the entire liver with a donor liver is the only sure way to cure PLD. The entire liver is replaced with a full or partial donor liver.
It's important to remember that these treatments are designed to relieve symptoms, improve quality of life, and slow the progression of the disease. The type of treatment you receive will depend on how severe your PLD is and your personal health factors. Talk to your doctor to find out which treatment is best for you.
Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Other side effects can occur. Check with your health care professional or read the information provided with your medication for additional side effect information.