What are the symptoms of Primary Biliary Cholangitis (PBC)?

From the Guidelines

Primary biliary cholangitis (PBC) often presents with fatigue and pruritus (itching) as the earliest symptoms, which can significantly impact quality of life. Many patients experience right upper quadrant abdominal discomfort or pain. As the disease progresses, jaundice may develop, causing yellowing of the skin and eyes. Other common symptoms include dry eyes and mouth (sicca syndrome), hyperpigmentation of the skin, and xanthomas (fatty deposits under the skin) 1. Some patients develop osteoporosis or osteopenia due to impaired calcium absorption. Portal hypertension can lead to ascites (fluid in the abdomen), varices, and edema in advanced stages. Hepatic encephalopathy may occur in late-stage disease, causing confusion and impaired cognition. Many patients with PBC also have other autoimmune conditions like thyroid disease or rheumatoid arthritis.

Key Symptoms and Complications

• Fatigue and pruritus are the most common initial symptoms
• Right upper quadrant abdominal discomfort or pain
• Jaundice, dry eyes and mouth, hyperpigmentation, and xanthomas
• Osteoporosis or osteopenia due to impaired calcium absorption
• Portal hypertension leading to ascites, varices, and edema
• Hepatic encephalopathy in late-stage disease

It's essential to note that approximately 50-60% of patients are asymptomatic at diagnosis, with the condition discovered through abnormal liver function tests during routine bloodwork 1. PBC predominantly affects middle-aged women, with the female-to-male ratio being approximately 9:1. The diagnosis of PBC is made when two of the following are present: an elevated ALP, a positive antimitochondrial antibody (AMA) and/or consistent liver histology 1.

Diagnosis and Treatment

• Elevated ALP, positive antimitochondrial antibody (AMA), and/or consistent liver histology
• Ursodeoxycholic acid as a first-line treatment for PBC
• Obeticholic acid for patients with an inadequate response to ursodeoxycholic acid or as monotherapy for those intolerant to ursodeoxycholic acid 1

From the FDA Drug Label

Symptoms of disease progression or worsening liver function, such as ascites, jaundice, variceal bleeding, or hepatic encephalopathy. Symptoms of complete biliary obstruction Severe or persistent non-specific signs and symptoms of impaired health: nausea, vomiting, abdominal pain, diarrhea, weight loss, fever and chills, worsening or new fatigue, weakness, loss of appetite, or dehydration.

The primary biliary cholangitis symptoms include:

• Ascites (fluid in the stomach-area)
• Jaundice (yellowing of the skin or the whites of the eyes)
• Variceal bleeding (bleeding from enlarged veins)
• Hepatic encephalopathy (mental changes such as confusion)
• Nausea
• Vomiting
• Abdominal pain
• Diarrhea
• Weight loss
• Fever and chills
• Fatigue
• Weakness
• Loss of appetite
• Dehydration 2 2

From the Research

Primary Biliary Cholangitis Symptoms

• Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease characterized by progressive bile duct damage and, ultimately, biliary cirrhosis 3.
• Symptoms of PBC can be debilitating and have a significant impact on quality of life and functional status 3.
• Characteristic symptoms of PBC include:
  • Pruritus (itching) 3, 4
  • Fatigue 3
  • Mild cognitive impairment 3
• Other symptoms that may occur in PBC patients include:
  • Abnormal alkaline phosphatase (ALP) activity 5
  • Presence of anti-mitochondrial antibodies (AMA) 5
• The disease can progress to cirrhosis and end-stage liver disease, and hepatocellular carcinoma (HCC) can develop in up to 3.5% of PBC patients 5.

Pathophysiology and Management

• The etiology of PBC is poorly understood, but factors such as cigarette smoking, immune dysregulation, and genetic predisposition may contribute to the development of the disease 5.
• Ursodeoxycholic acid (UDCA) is the primary medication for the treatment of PBC, but 30-40% of patients do not respond adequately to UDCA 6, 5, 7.
• Obeticholic acid (OCA) is a second-line treatment option for PBC patients who do not respond to UDCA, and has been shown to improve liver biochemistries and reduce ALP levels 6, 5, 4, 7.
• Other treatment options, such as fibrates, may also be effective in improving liver function in PBC patients who do not respond to UDCA 7.