Cystic liver disease (PCLD – polycystic liver disease) is a rare liver disease in which the liver is riddled with cysts (cavities filled with fluid). The cause of cystic liver is known to be gene mutations on chromosomes 6 and 19, so cystic liver is therefore a hereditary disease. A cystic liver should not be confused with a liver cyst.
What is cystic liver?
A cystic liver is a usually congenital malformation of the liver. In this case, the organ is riddled with cysts. In contrast to the much more common liver cysts, cystic liver is a very rare disease that is often genetically determined. The disease is characterized by a slow, progressive expansion of the liver and possible changes in the abdominal cavity. Cystic liver is generally a benign disease that occurs primarily in women after the age of 40.
Causes
The most common cause of cystic liver is what is known as autosomal dominant polycystic kidney disease (ADPKD for short). About 58 percent of all affected patients have already developed a cystic liver by the age of 20, 85 percent by 30 and 95 percent then by 40. A cystic liver is usually also observed in ADPKD, although polycystic kidney disease is more common than autosomal dominant polycystic liver disease. In ADPKD, there is deterioration of kidney function due to cystic remodeling of kidney tissue. This leads to kidney failure, which can only be treated with dialysis as long as no donor organ is available. Among other things, affected patients also develop malformations of the vessels in the cerebral arteries (aneurysmata), changes in the heart valves, and benign protrusions of the colon wall. The disease course of polycystic kidney disease is similar to the disease course of cystic liver.
Symptoms, complaints, and signs
Cystic liver is usually a benign disease that initially causes no symptoms. However, due to a genetic defect, the liver is riddled with cysts from birth. However, this does not initially affect liver function. However, a cystic liver has the property of becoming larger and larger over time. As a result, the cyst in the liver grows. Due to its increasing size, it can later press on the stomach and intestines and cause the displacement of these organs. This is when the typical symptoms caused by the mass occur. Symptoms include early feeling of fullness, loss of appetite, nausea, vomiting and weight loss. Furthermore, the increase in size of the liver can increasingly lead to shortness of breath and heart problems (cardiac arrhythmias). Regardless of this, however, liver function remains intact for the time being. However, this can become increasingly limited with further cyst formation. Any liver dysfunction is then caused by impaired liver perfusion or bile flow. In the case of bile flow problems, there is also a yellowing of the skin and eyes (jaundice). Very rarely, bleeding from the cysts is also possible. Lacerations and infections at the cysts may also occur. Therefore, despite the generally good prognosis of cystic liver, surgical intervention is sometimes necessary to alleviate the symptoms. If the liver is completely riddled with cysts, however, liver function may fail completely. In that case, liver transplantation must be performed.
Diagnosis and course
Cystic liver is primarily manifested by a slow increase in the size of the organ due to the increasing number and size of cysts. There is then usually displacement of other organs in the body as well. A cyst liver usually grows to about ten times the size of a normal organ. Typical symptoms of a cystic liver include pain, an increase in abdominal girth, early feelings of fullness, nausea and vomiting, and abdominal wall hernias. In some circumstances, affected individuals may also experience shortness of breath and cardiac arrhythmias. If infection of the cyst contents or bursting of a cyst (both with and without bleeding) occurs, serious complications may result. In rare cases, the cyst liver carries a high-grade restriction of the function of the liver.An ultrasound (sonography) is the surest means of diagnosing a cystic liver. If other family members are already affected by the disease, the medical history can provide further clues as to the exact nature of the cystic liver. Computer tomography or magnetic resonance imaging can also provide further information, especially if symptoms are present. Elevated laboratory parameters alone (e.g., bilirubin) or even an elevated tumor marker (CA 19-9) do not allow conclusions about the severity of the disease.
Complications
Cystic liver can cause various complications. If the liver disease is not treated in time, cardiac arrhythmias, respiratory distress, and gastrointestinal symptoms may occur as the disease progresses. Further growth of the cyst causes abdominal pain and possibly cramps, always associated with a strong feeling of malaise and sickness. If infection of the cyst contents or rupture of a cyst occurs, this can cause serious complications. First, there is a risk that the entire liver will become inflamed, severely impairing its ability to function. Furthermore, blood poisoning can occur, which in the worst case can be fatal. In the treatment of a cystic liver, the risks mainly come from surgical interventions. Liver transplantation carries the risk that the body will reject the new organ. In addition, infections, allergic reactions and secondary diseases such as osteoporosis may occur. Removal of individual cysts can lead to bleeding, injury or inflammation, which in turn are associated with far-reaching complications. Lastly, the administration of antibiotics and other medications can lead to serious side effects and interactions. If taken for a prolonged period, there is a risk of permanent organ damage.
When should you see a doctor?
If there is a diagnosed genetic defect within the family, a comprehensive genetic test should be performed immediately after the birth of the offspring. It should be checked whether the existing genetic mutation has been transmitted to the offspring. If various health irregularities become apparent in the further course, a visit to the doctor is also necessary. The most worrying are swellings, a feeling of tightness in the organism or general limitations of functional activities. In case of disorders of the gastrointestinal tract, pain, nausea or vomiting, clarification of the cause is necessary. Changes in weight, a loss of appetite, and a general feeling of illness or internal weakness are further signs of a present illness. Shortness of breath, disturbances of the heart rhythm and changes in the appearance of the skin should always be presented to a physician. A characteristic feature of cystic liver is a yellow appearance of the affected person. A physician should be consulted immediately before complications can develop. If states of anxiety, insomnia or inner restlessness develop due to the disturbances in respiratory activity, consultation with a physician is advised. A medical examination is needed so that a diagnosis can be made. A treatment plan is necessary to alleviate the symptoms. The steady increase of health impairments should be understood as a warning signal. Therefore, they should be controlled. If left untreated, life-threatening developments may occur.
Treatment and therapy
Cystic liver, if there are no symptoms, does not necessarily need to be treated. If treatment is nevertheless to be performed, it is possible by means of laparoscopic capping of the cysts, removal of individual segments of the liver, or a combination of both techniques. If the liver is massively riddled with cysts and the function of the liver is restricted as a result, liver transplantation is performed in exceptional cases. Which procedure is actually used depends on the symptoms and complaints of the affected patient. Surgical intervention can usually end the symptoms in 90 percent of cases, but a recurrence of symptoms due to further growth of the cysts cannot be ruled out. Patients who wish to avoid surgical intervention can resort to puncturing individual cysts, sclerotherapy or medication. Puncture – especially of individual large cysts – can usually lead to relief of the symptoms, at least in the short term, but there is also a 100 percent chance of recurrence.The probability of recurrence is usually lower when the cysts are sclerosed. Both procedures are limited to only a small number of cysts and there is usually no significant improvement in symptoms. Even though the use of medications should be considered rather critically, mainly because of side effects and also therapy costs, medications (e.g., somatostatin analogues) can cause a decrease in liver volume as well as a slowing of cyst growth.
Prevention
A cystic liver cannot actually be prevented, especially if it is hereditary. Only the treating physician can clarify whether there are preventive measures, after a thorough medical history has been taken – including any diseases in the family.
Aftercare
The affected person usually has only limited and also very few measures of direct aftercare available in the case of a cystic liver. For this reason, early diagnosis and subsequent treatment are paramount in this disease to prevent the occurrence of other symptoms or complications. As a rule, cystic liver cannot heal itself, so the affected person is always dependent on a visit to a doctor. In many cases, the disease can be completely cured only by transplantation of the liver. After such a procedure, the affected person should rest and take it easy in any case. Efforts or stressful and physical activities should be avoided in order not to put unnecessary strain on the body. Similarly, a healthy lifestyle with a healthy diet can have a positive effect on the further course of cyst liver. Those affected should avoid excess weight as far as possible. It is often necessary to take various medications. This can limit some of the symptoms as well. Care should always be taken to ensure the correct dosage and also that the medication is taken regularly. In case of ambiguity or side effects, a doctor should always be consulted first. Under certain circumstances, the disease can also reduce the life expectancy of the patient.
What you can do yourself
In the case of a cystic liver, the options for self-help are significantly limited in most cases and are also very rarely available to the affected person in the process. The disease itself can be cured thereby usually only by a transplantation of the liver completely, whereby the complaints after a surgical intervention can occur again, however. Those affected by cystic liver often depend on the help and support of their own family in their daily lives. Psychological support is also very important here, as it can also prevent or alleviate depression and other psychological upsets. Furthermore, regular check-ups by a doctor are also very useful in order to permanently monitor the condition of the liver. In general, a healthy lifestyle with a healthy diet can also have a positive effect on the further course of cystic liver disease. In any case, patients should refrain from smoking and drinking alcohol in order not to put unnecessary strain on the liver. Since cystic liver may also be hereditary, genetic testing and counseling should definitely be performed if the patient wishes to have children in order to prevent recurrence of this disease in descendants.
