A rare genetic disorder that causes cysts to appear throughout the liver is called polycystic liver disease (PCLD). In most cases, people do not know they have this condition because it usually does not cause any symptoms. The symptoms usually appear when cysts are numerous and large. While the most common symptoms are swelling and abdominal (belly) pain, this disorder can also cause other symptoms. In general, there are some treatments available to ease the symptoms and improve your quality of life.
Types of Polycystic Liver Disease
Healthcare professionals have divided this condition into 2 types. These include:
- Autosomal dominant polycystic kidney disease (ADPKD) – This type of disease causes cysts to develop on both kidneys and the liver. Moreover, it is the most common form and affects about 70% of all diagnosed cases. Usually, the severity of this disorder varies among people.
- Isolated polycystic liver disease (IPCLD) – In such cases, the cysts appear only on the liver, and it affects about 30% of all diagnosed PCLD cases. Moreover, IPCLD tends to have a later onset in life compared to ADPKD. IPCLD often causes symptoms during adulthood.
Symptoms
This condition usually does not cause any symptoms. That’s why most people with PCLD do not even know they have this condition. Commonly, the symptoms appear when the liver becomes enlarged and bulky with cysts. Check below some symptoms often noticed in people with PCLD:
- Abdominal pain and swelling – This is one of the most common symptoms of this genetic disorder, and sometimes the pain can be sharp or dull. Usually, it affects the upper right part of the belly (where the liver is). Moreover, some people can also experience ascites (fluid buildup in the abdominal area).
- Early satiety (feeling full after eating a small meal) – When the cysts are too numerous, they can crowd on your stomach, which makes you feel full sooner.
- Dyspnea (shortness of breath) – If you develop extremely large cysts, they can put pressure on the diaphragm. These are muscles that separate the chest from the abdominal area. Furthermore, they play an important role in breathing.
- Back pain – This symptom occurs less commonly and only when the liver becomes enlarged and begins to push on the back muscles.
- Heartburn – Rarely, a large liver can put extra pressure on the stomach, causing the stomach acid to flow backward into the esophagus (the tube that carries drinks and food from the mouth to the stomach).
If any of the symptoms listed above occur, immediately contact your healthcare professional.
Causes and Risk Factors
This is a genetic condition that most people inherit from their biological parents during pregnancy, but it can also occur randomly. For instance, a genetic mutation (change) in the PRKCSH gene sometimes causes isolated polycystic liver disease. Generally, this gene plays an important role in cell signaling within the liver. This abnormal gene can also cause problems with bile duct development, which often leads to cyst formation. Check below for other genes that can also cause polycystic liver disease:
- ALG8
- GANAB
- LRP5
- PKHD
- SEC63
The previous genes make up less than 50% of all diagnosed polycystic liver diseases. This indicates multiple genes are involved in this disorder. Additionally, doctors have identified some factors that can increase your risk of developing PCLD. For example, females are more prone to polycystic liver disease compared to men because of the higher Estrogen production that stimulates cyst growth. The risk of developing PCLD also increases if you have a parent or sibling with this disorder.
What Happens if The Polycystic Liver Disease is Left Untreated?
While most people do not experience complications, some people can experience the following ones. In general, polycystic liver disease is rarely life-threatening. Check below some complications:
- Cyst bleeding – This complication occurs quite rarely, but it can cause internal bleeding, which often leads to sudden and severe abdominal pain.
- Cyst infection – While it occurs less commonly, it can be very serious. The most common symptoms of a cyst infection include fever, chills, and severe belly pain.
- Bile duct obstruction and jaundice – If you develop large cysts, they can put pressure on the bile ducts (certain tubes that carry bile from the liver to the small intestine) and cause it to flow backward into the bloodstream. As a result, it may lead to jaundice (yellowing of the skin and whites of the eyes).
- Portal hypertension – This complication happens when people develop a severe form of polycystic liver disease. It affects the blood vessels that carry blood from the intestines to the liver. As a result, you may experience ascites (fluid buildup in the abdominal area).
- End-stage liver disease – Rarely, people can experience liver failure due to an extensive cyst development.
This document does not contain a full list of PCLD complications. In any case, you can talk with your doctor about ways to reduce the risk of developing the previous complications.
How Doctors Diagnose Polycystic Liver Disease?
Usually, doctors begin with a physical examination to check for irregularities linked to the disease. Thereafter, they may also ask some questions about the symptoms and medical history to get more clues about the disease. However, to confirm or rule out this condition, doctors may perform the following tests. These include:
- Liver ultrasound – In general, this is a primary test used to identify the location and size of the cysts.
- CT (computed tomography) scan – This is another imaging test used to get cross-sectional images of different structures and organs in the body.
- MRI (magnetic resonance imaging) – This test is often used to get more detailed images of different organs in the body. It often helps confirm PCLD as well as other liver disorders.
In some cases, doctors may perform a genetic test, especially when imaging test results are uncertain. This test helps identify some genes often linked with PCLD.
Treatment
People who do not experience symptoms usually do not need treatment. However, if you have symptoms or large cysts, doctors may recommend the following treatments. For example, medicines, minimally invasive procedures, or surgery.
Medicines
The following medicines are usually used to improve liver function and relieve the symptoms caused by this disorder. These include:
- Painkillers – Doctors often recommend over-the-counter (OTC) pain relievers, including Ibuprofen, Acetaminophen, and others.
- Somatostatin analogs – This group of medicines is often used to reduce liver cyst size and improve the symptoms. However, these medications are usually safe and rarely cause serious adverse reactions.
- Ursodeoxycholic acid (UDCA) – Commonly, doctors prescribe this medicine for people with PCLD associated with ADKPKD because it helps improve liver function.
Minimally Invasive Procedures
The following procedures are often recommended by doctors when large cysts cause other health problems. Examples include:
- Cyst aspiration – During this procedure, doctors will insert a needle into a cyst to drain the fluid. It helps relieve pressure and temporary improve the symptoms.
- Sclerotherapy – This treatment is often recommended after cyst aspiration because it prevents refilling of the cyst with fluid. It involves injecting a sclerosing agent that causes scarring.
- Ablation – This involves laser ablation or radiofrequency ablation that uses heat to destroy the cyst lining. It helps shrink a large cyst and relieve the symptoms.
Surgery
The following surgeries are used when people develop a severe form of polycystic liver disease and previous treatments do not work. Check below some options often recommended by doctors:
- Partial liver resection – This surgery is used to remove a part of the liver that contains multiple cysts.
- Liver transplantation – If you develop life-threatening complications and other treatments do not help, you may need a liver transplantation. However, this treatment is used for people with PCLD very rarely.
Frequently Asked Questions
When should I see my healthcare provider?
While most people with PCLD do not experience any symptoms, it is advised to see a doctor if any of the following symptoms occur. For example, abdominal (belly) pain, swelling, heartburn, or back pain.
What is the life expectancy for polycystic liver disease?
In general, this condition does not affect life expectancy. Moreover, most people with this condition do not know they have it. Your life expectancy can be affected only if you develop serious complications.
Can you drink alcohol with polycystic liver disease?
While doctors allow you to drink alcohol because it does not trigger this condition, anyway, you should limit the amount you drink. Excessive alcoholic beverages can cause inflammation and swelling in the liver, which, over time, can cause cirrhosis. Ask your healthcare provider if you have additional questions.
