Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.

The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue.

In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice).

People with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).

Unlike most cases of cirrhosis, cryptogenic cirrhosis is not caused by the hepatitis C or B virus or chronic alcohol use. A diagnosis of cryptogenic cirrhosis is typically given when all other causes of cirrhosis have been ruled out. When a disorder occurs without an apparent underlying reason, it is described as cryptogenic.

Research has shown that many cases of cryptogenic cirrhosis likely result from a condition called non-alcoholic fatty liver disease (NAFLD). In NAFLD, fat accumulates in the liver, impairing its function. If the fat buildup leads to inflammation and damage to liver tissue, NAFLD progresses to a condition called non-alcoholic steatohepatitis (NASH). Long term inflammation in people with NASH can cause the formation of scar tissue and a decrease in fat buildup. As a result, individuals progress from NASH to cirrhosis.

Cryptogenic cirrhosis may also develop from autoimmune hepatitis, which is a condition that occurs when the body's immune system malfunctions and attacks the liver, causing inflammation and liver damage.

In very rare cases, cryptogenic cirrhosis has been associated with mutations in genes that provide instructions for making certain keratin proteins. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, nails, and similar tissues. People with these keratin gene mutations are more likely to have fibrous deposits in their livers than individuals without the mutations. These deposits impair liver function, leading to cirrhosis. Mutations in these genes have also been found in people with other liver disorders.

In many cases, the cause of cryptogenic cirrhosis is unknown. Many people with predisposing conditions do not develop cirrhosis. Researchers are working to discover the causes of cryptogenic cirrhosis as well as to find out why some people seem to be protected from developing cirrhosis and others seem to be susceptible.

Most cases of cryptogenic cirrhosis are not inherited. However, people with a family history of liver disease or autoimmune disease are at an increased risk of developing these diseases themselves, and possibly cirrhosis.

In individuals with an associated keratin gene mutation, the risk of developing cryptogenic cirrhosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to increase the risk of developing cryptogenic cirrhosis. In these families, people inherit an increased risk of cryptogenic cirrhosis, not the disease itself.

At first, you may have no symptoms at all (this is called compensated cirrhosis). In fact, a person may live many years with cirrhosis without being aware that his or her liver is scarred. This is because the pressure in the portal vein is not yet too high and there are still enough healthy liver cells to keep up with the body's needs.

But if nothing is done about the cause of cirrhosis (if you continue to drink or your hepatitis is not treated, for example), the pressure in the portal vein gets higher and the few remaining worker cells get overwhelmed.

Then you may notice symptoms like low energy, poor appetite, weight loss, or loss of muscle mass. You can also develop the following serious problems: (1) internalbleeding from large blood vessels in the esophagus, called bleeding varices; (2) a buildup of fluid in the belly, called ascites (pronounced "a-sigh-tees"); (3) confusion from the buildup of toxins in the blood, called encephalopathy (pronounced "en-sef-a-lop-a-thee"); or (4) yellowing of the eyes and skin, called jaundice.

As mentioned earlier, another serious complication of cirrhosis is liver cancer, which may occur in the compensated or decompensated stage. There may be no signs of liver cancer until the cancer has grown very large and causes pain.

Often, you cannot know whether you have cirrhosis until the disease is advanced. Only your health care provider can tell you if you have cirrhosis.

There are many signs of cirrhosis that your provider may find. You may have red palms or small spider-like veins on your face or your body. You may have developed fluid in your abdomen.

Your provider may order blood tests that point to cirrhosis. Other tests can also give your provider a good idea of whether you have cirrhosis, such as an ultrasound, a CAT scan, an MRI, or a special kind of ultrasound that measures the amounts of stiffness in your liver (as the liver gets scarred, it gets stiffer).

Sometimes, you may need a liver biopsy. A liver biopsy shows how much scarring your liver has and will help your health care provider figure out what is causing the damage and how best to treat it.

The most important thing you can do is to protect your liver from further damage and follow the treatment prescribed by your provider. The following checklist will help you take care of your liver and keep you well.

Put a check in the boxes next to the statements that show what you have done or are going to do to take care of your liver:

• I am not drinking alcohol or using drugs.
• I always take the medications that my provider has ordered for me. I know their names and purpose.
• I tell my provider if I am taking over-the-counter or herbal medications.
• I don’t take pain pills like ibuprofen (Motrin, Advil) or Naprosyn (Aleve), especially if I have ascites.
• I don’t take too many Tylenol (acetaminophen) pills, and I never take Tylenol with alcohol.
• I avoid sleeping pills or tranquilizers.
• If my provider tells me to take lactulose, I take enough to move my bowels two or three times a day and the stool is a soft consistency.
• I keep all my medical appointments or call if I need to reschedule.
• I have been tested to see whether I need to get the hepatitis A and B vaccines (hepatitis A and B are viruses that attack the liver).
• I have received the pneumonia vaccine and I get my annual flu shot (people with cirrhosis are more likely to get infections).
• I have received or inquired about the COVID vaccination.
• I eat a well-balanced diet that is low in fat and includes enough protein. I cut down on salt (sodium), read food labels, and avoid canned or prepared foods, especially if I have ascites.
• I never let myself get constipated. If it happens, I tell my health care provider.
• I keep a healthy weight and weigh myself regularly if my provider recommends it.
• I make sure to have a balance of work, rest, and exercise in my life.
• I cope well with stress (or I ask for guidance when I can’t cope).
• I tell my health care provider if I am depressed.
• I have never smoked cigarettes, I have quit smoking, or I have discussed quitting with my health care provider.
• I have asked my health care provider whether I need a liver transplant.

Cirrhosis affects more than 600,000 people in the United States; cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases.