What is Cryptogenic Cirrhosis?
Cryptogenic cirrhosis is a type of liver disease where the cause is unknown and there are no clear signs or tests that point to a specific disease. It accounts for nearly 5% to 30% of all cirrhosis cases and about 10% of liver transplants. Even though the exact cause is unclear, it’s suggested that non-alcoholic fatty liver disease plays a prominent part in the development of this condition.
What Causes Cryptogenic Cirrhosis?
The exact cause of a type of liver disease known as cryptogenic cirrhosis isn’t fully understood. However, several potential causes have been suggested. These might include a condition called NASH that damages the liver due to fat buildup, unrecognized alcohol consumption, hidden viral hepatitis, autoimmune diseases that attack the liver, hidden bile duct diseases, liver blood vessel diseases, celiac disease that damages the small intestine, mitochondriopathies which are genetic disorders affecting a cell’s energy production, and Familial Mediterranean fever which is a genetic inflammatory disorder.
Other potential causes could be systemic lupus erythematosus, an autoimmune disease; Alstrom syndrome, a rare genetic disorder; abnormalities in apolipoprotein B which helps carry cholesterol; low levels of LDL cholesterol also known as ‘bad cholesterol’; short telomere syndromes where ends of chromosomes are shorter; Keratin 18 mutations, which can affect liver cells; and mutations in the glutathione S-transferase gene, which plays a key role in detoxifying substances in the liver.
Risk Factors and Frequency for Cryptogenic Cirrhosis
Cryptogenic cirrhosis, a type of liver disease, is responsible for 5% to 30% of all cirrhosis cases and roughly 10% of liver transplants. Almost half of the people with this condition are females and the average age of diagnosis is around 60.
- Cryptogenic cirrhosis accounts for about 5% to 30% of all cirrhosis cases.
- It’s also responsible for about 10% of liver transplants.
- Approximately half of the patients with cryptogenic cirrhosis are females.
- The average age of a person diagnosed with cryptogenic cirrhosis is around 60.
Signs and Symptoms of Cryptogenic Cirrhosis
Cryptogenic cirrhosis is a condition where your liver becomes severely scarred, but the cause is unknown. Around 10% of cryptogenic cirrhosis cases are found by chance during investigations for other problems like gallbladder disease. Nearly 45% of patients may feel tired or have unexplained lab test abnormalities, but these symptoms are vague and unclear. The same percentage might also experience complications related to high blood pressure in the liver such as fluid buildup in the abdomen, mental confusion, or blood vessel rupture. Some people with cryptogenic cirrhosis might develop liver cancer.
It’s important to note that cryptogenic cirrhosis is closely related to nonalcoholic steatohepatitis, which is a severe form of nonalcoholic fatty liver disease, and metabolic syndrome. Therefore, patients might have heart-related illnesses while also having cryptogenic cirrhosis.
To trace the cause of the disease, a patient’s medical history should be thoroughly investigated. This includes checking for any prior diagnosis of fat accumulation in the liver, obesity, diabetes, high levels of fat in the blood, exposure to shared needles or blood, family history of liver disease, personal or family history of autoimmune diseases, alcohol consumption history, medication history such as use of methotrexate, and history of certain occupations.
Patients with cryptogenic cirrhosis may show signs and symptoms identical to those with cirrhosis related to known causes. These could include:
- Yellowing of the skin and eyes (jaundice)
- Changes in mental state
- Redness of palms
- Red spider-like blood vessels on the skin
- Swelling of the abdomen
- Weight loss
- Swelling in the legs
- Abnormal blood vessels, visible through the skin
- Hand tremor (asterixis)
Other specific findings may also occur depending on the individual case.
Testing for Cryptogenic Cirrhosis
When it comes to lab tests for diagnosing liver diseases, your doctor might order various evaluations. These could include tests for viral hepatitis, autoimmune diseases, immune system function, iron levels, alpha-1-antitrypsin levels (a protein that protects the lungs), markers for Wilson’s disease and celiac disease. For patients with a condition known as cryptogenic cirrhosis, one might find the liver enzymes AST (aspartate aminotransferase) and ALT (alanine aminotransferase) only slightly raised or even normal.
Alongside these lab tests, a biopsy (taking a small piece of the liver tissue) is necessary for an accurate diagnosis. The biopsy results will show various characteristics indicating the state of your liver. This includes the type and spread of inflammation, swollen liver cells, accumulation of certain proteins, cells with stored glucose, spots of fat accumulation, growth of bile duct cells, and presence of cell remnants after death and removal.
Treatment Options for Cryptogenic Cirrhosis
The best treatment for cryptogenic cirrhosis, a type of liver disease, is a transplant. However, since there’s a link between this disease and NASH (a liver inflammation caused by fat accumulation), medical care before the transplant can also help. Changing certain habits like losing excess weight, being more physically active, and eating healthier are all advised. It should be noted that NASH is one of the triggers for cryptogenic cirrhosis, but there can be others too. Treatment that addresses these other potential causes of cryptogenic cirrhosis is also suggested.
What else can Cryptogenic Cirrhosis be?
Cryptogenic cirrhosis can often be confused with other diseases that cause similar symptoms. Some of the diseases that could be mistaken for cryptogenic cirrhosis include:
- Alcoholic liver disease
- Non-alcoholic fatty liver disease
- Hepatitis B and C
- Autoimmune hepatitis
- Primary biliary cirrhosis
- Primary sclerosing cholangitis
- IgG4 cholangiopathy (a condition causing inflammation and damage to the bile duct)
- Recurrent bacterial cholangitis (frequent bile duct infections)
- Bile duct narrowing or stenosis
- Budd-Chiari syndrome (a condition causing blockages in the veins that carry blood from the liver)
- Right heart failure
- Osler disease (a rare genetic disorder affecting blood vessels)
- Hemochromatosis (too much iron in the body)
- Wilson disease (a rare inherited disorder causing copper to accumulate in vital organs)
- Alpha-1-antitrypsin deficiency (a genetic disorder that can cause lung and liver disease)
To diagnose these conditions, healthcare providers must carry out a series of tests. These can include a physical exam, laboratory tests, and imaging tests. Once cirrhosis is confirmed, your doctor will look at your risk factors and may conduct further tests – including a biopsy – to find out what is causing the cirrhosis.
What to expect with Cryptogenic Cirrhosis
According to a study by Rinaldi and his colleagues, it was found that, over an average review period of 42 months, the death rate among those with cryptogenic cirrhosis (a liver disease of unknown cause) was 39.2%. This was higher than the death rate of 30% seen in those with Hepatitis C related cirrhosis.
Additionally, it was noted that individuals with cryptogenic cirrhosis had an average survival period of 60 months.
The Model for End-Stage Liver Disease (MELD) score is a tool used by doctors to measure the severity of advanced liver disease and determine the need for a liver transplant. The MELD score takes into account four different factors – creatinine (a waste product found in the blood), bilirubin (a substance that can build up in the blood and cause the skin and eyes to turn yellow), INR (a test used to determine how long it takes for your blood to clot), and sodium (a key electrolyte in the body).
Possible Complications When Diagnosed with Cryptogenic Cirrhosis
Cryptogenic cirrhosis, like other kinds of cirrhosis, can lead to a number of different complications. These could include liver cancer, certain kidney and lung conditions, severe bleeding in the digestive system, excess fluid in the abdomen, a specific type of infection in the abdomen, and mental confusion related to liver disease. Moreover, there can be added complications specific to cryptogenic cirrhosis, such as heart and kidney conditions, as well as other issues related to diabetes like eye diseases. The type of complications can also hinge on the root cause of the cryptogenic cirrhosis.
- Liver cancer
- Certain kidney and lung conditions
- Severe bleeding in the digestive system
- Excess fluid in the abdomen
- A specific type of infection in the abdomen
- Mental confusion linked to liver disease
- Heart disease
- Kidney disease
- Other complications associated with diabetes such as eye disease
Preventing Cryptogenic Cirrhosis
Cryptogenic cirrhosis, a serious liver disease, can dramatically impact a person’s life. People who have a family history of liver disease or who are already at risk due to obesity, diabetes, high blood pressure, or high cholesterol levels should regularly visit their primary care doctor. If someone has a high risk of developing cryptogenic cirrhosis, it’s crucial to stick to their prescribed medication, make necessary lifestyle and diet changes, and keep a close eye on their health status. They should also make regular visits to a specialist like a gastroenterologist or hepatologist, who can provide expert guidance and possibly recommend a liver transplant if needed.
