Definition

Primary biliary cirrhosis, or primary biliary cholangitis, is a progressive liver disease that worsens over time. In this condition, the bile ducts in the liver become inflamed and damaged. Without functioning bile ducts, bile accumulates and damages the liver. This disease most commonly affects females aged 40 to 60.

Causes

Bile is a fluid produced by the liver that aids in fat digestion, helps absorb certain vitamins, and eliminates waste toxins from the body. It flows out of the liver through the bile ducts.

In primary biliary cholangitis, the immune system mistakenly identifies the bile ducts as foreign objects and attacks them. This inflammation in the bile ducts begins when a type of white blood cell called T lymphocytes accumulates in the liver. Normally, T lymphocytes recognize germs and defend the body against them. However, in this condition, they attack the bile ducts instead. The resulting inflammation spreads to the surrounding liver cells, causing them to be replaced by scar tissue.

If inflammation persists, the liver will deteriorate and eventually lead to cirrhosis. Cirrhosis is characterized by the transformation of liver cells into scar tissue, impairing the liver's ability to function properly.

Risk Factors

There are several factors that increase the risk of primary biliary cholangitis, including:

• Gender: Primary biliary cholangitis is more common in females.
• Age: This condition typically occurs in individuals between 30 and 60.
• Genetic Factors: Having family members who have experienced primary biliary cholangitis increases your risk.
• Race/Ethnicity: It is more commonly found in individuals of Northern European descent and less frequently in individuals of African descent, although it can occur in all races.
• Environment: Risk increases with factors such as infections (such as urinary tract infections), smoking, and exposure to toxic substances.

Symptoms

Primary biliary cholangitis does not always cause symptoms and is often discovered incidentally during routine blood tests. The main symptoms commonly reported by patients include fatigue (65%), itching (55%), and discomfort in the upper right abdomen (8-17%). Other possible symptoms may include bone and joint pain, dry mouth and eyes.

In more severe stages of the disease, additional symptoms may appear, such as:

• Swelling (edema) in the legs
• Abdominal distension due to fluid buildup (ascites)
• Accumulation of fat on the skin near the eyes, eyelids, or in the creases of the hands, heels, elbows, or knees (xanthoma and xanthelasma)
• Yellowing of the skin and sclera of the eyes
• Skin patches that darken unrelated to sun exposure (hyperpigmentation)
• Diarrhea accompanied by fatty stools
• Bone thinning leading to brittle and easily fractured bones
• Significant weight loss

Diagnosis

The diagnosis of primary biliary cholangitis is established through a medical interview, including symptoms and medical history, physical examination, and diagnostic tests.

Medical interview and physical examination

The doctor performs a physical examination to identify signs of enlarged spleen and liver damage, such as a swollen abdomen filled with fluid, loss of muscle mass, swelling at the ends of the hands or feet, and red palms.

Laboratory tests

Routine laboratory tests such as liver enzyme tests, cholesterol levels, bilirubin, complete blood count, and erythrocyte sedimentation rate are commonly used for diagnosis. Additional tests may include alkaline phosphatase (ALP) and antimitochondrial antibodies (AMA). AMA is a key marker for this disease, as it is found in 90-95% of primary biliary cholangitis patients.

Imaging tests

Imaging tests such as ultrasonography, computed tomography scan (CT scan), or magnetic resonance imaging (MRI) are used to look for blockages in the bile ducts. Portal hypertension, a condition of high blood pressure in the portal vein, may also be identified in the stage of cirrhosis.

Other diagnostic tests

A biopsy or tissue sampling may be performed, considered the gold standard for diagnosing primary biliary cholangitis. This allows direct observation of tissue in the laboratory and can help determine the severity of the disease.

Management

Primary biliary cholangitis (PBC) is a progressive condition that causes increasingly severe liver damage. Therefore, therapy and treatment aim to slow disease progression and manage symptoms. Medications commonly used for treatment include ursodeoxycholic acid (UDCA), typically used for gallstones, and obeticholic acid, which helps reduce inflammation and bile acid buildup in the liver. Other treatments may focus on managing symptoms such as itching and fatigue and addressing complications such as vitamin deficiencies and osteoporosis.

Doctors may prescribe antihistamine medications to alleviate inflammation and itching and manage itching symptoms. However, these medications must be administered carefully because they can worsen brain function in patients with cirrhosis.

In addition to medication, physical activity is still recommended for patients with primary biliary cholangitis. Physical activity aims to prevent bone loss, especially in women who have stopped menstruating due to decreased estrogen hormone levels.

In severe cases, doctors may consider a liver transplant. Liver transplantation can also be performed in life-threatening conditions.

Complications

• Enlarged veins (Varices)

Blockage of veins in the portal vein system within the liver can occur due to scarring. When this happens, blood may flow back to previous veins, typically in the stomach and esophagus. If excessive blood accumulates in these areas, it can elevate the pressure on the veins. This heightened pressure may lead to veins rupture, resulting in bleeding. Bleeding in the stomach and esophagus is a life-threatening emergency condition that requires immediate treatment.

• Enlarged spleen (Splenomegaly)

The spleen may swell and contain white blood cells and platelets due to impaired toxin filtering by the liver.

• Gallstones

Accumulation of bile can lead to the formation of gallstones, causing pain and infection.

• Liver cancer

Cirrhosis increases the risk of liver cancer, necessitating regular monitoring.

• Bone loss (Osteoporosis)

Individuals with primary biliary cirrhosis are at high risk of osteoporosis, making bones more fragile and prone to fractures.

• Vitamin deficiency

Absence of bile makes it difficult for the intestines to absorb fat-soluble vitamins, leading to deficiencies in vitamins A, D, E, and K. This deficiency can result in complications such as night blindness due to vitamin A deficiency, and blood clotting disorders due to insufficient vitamin K.

• High cholesterol (Hyperlipidemia)

Approximately 80% of patients with primary biliary cirrhosis have high cholesterol levels.

• Brain function impairment (Hepatic Encephalopathy)

Toxic substances that should be filtered by the liver can poison the brain, resulting in personality changes, memory impairment, and concentration difficulties.

• Increased risk of other diseases

Primary biliary cirrhosis is associated with other diseases, such as thyroid disease and other autoimmune diseases.

Prevention

Preventing primary biliary cirrhosis (PBC) is challenging because the disease often manifests without symptoms, and its onset cannot be precisely predicted. Therefore, the focus is on preventing complications by slowing the progression of liver damage. This can be achieved through regular monitoring, medication to manage symptoms and reduce bile buildup, and lifestyle changes to support liver health.

When to see a doctor?

If you experience pain in the upper right abdomen, increased abdominal swelling, and yellowing of the skin and eyes, it's important to consult a doctor. These symptoms may indicate liver problems, including primary biliary cholangitis. This disease generally progresses to a severe stage, underscoring the need for early treatment to slow its progression.

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