What are the symptoms of primary biliary cirrhosis?

Symptoms of Primary Biliary Cirrhosis

Primary biliary cirrhosis (PBC) presents with a range of symptoms, with fatigue and pruritus being the most common early manifestations that significantly impact quality of life and indicate a more aggressive disease course.

Early Symptoms

• Fatigue - Occurs in the majority of patients and can be debilitating, often associated with excessive daytime somnolence 1, 2
• Pruritus (itching) - A hallmark symptom that can be severe and significantly impact quality of life, affecting up to 70% of patients during the course of the disease 3, 1
• Abdominal discomfort/pain - Common but non-specific symptom reported by many patients 4, 2
• Anorexia - Loss of appetite is frequently reported, contributing to nutritional concerns 4
• Jaundice - Yellowing of skin and eyes, typically appears in later stages of the disease 2, 5

Disease Progression Symptoms

• Portal hypertension signs - Including ascites (fluid in abdomen), splenomegaly, and esophageal varices that may lead to bleeding 3, 2
• Hepatomegaly - Enlarged liver is present in 30-50% of patients at diagnosis 5, 4
• Splenomegaly - Present in approximately 15% of patients at initial presentation 5
• Hyperpigmentation - Skin darkening occurs in less than half of patients 2
• Xanthomas - Cholesterol deposits in the skin, present in about 22% of patients 2, 3

Associated Symptoms and Complications

• Sicca symptoms - Dry eyes and mouth due to associated Sjögren's syndrome 3
• Bone pain - Related to osteoporosis, which is a common complication 3
• Dyslipidemia - Abnormal lipid levels that may contribute to xanthoma formation 3
• Hepatic encephalopathy - Mental status changes in advanced disease 6
• Steatorrhea - Fat malabsorption due to reduced bile flow 7

Laboratory Abnormalities

• Elevated alkaline phosphatase (ALP) - Typically 2-10 times the upper limit of normal, a hallmark finding 4, 1
• Elevated gamma-glutamyl transferase (GGT) - Another marker of cholestasis 4
• Hyperbilirubinemia - Rising bilirubin levels indicate disease progression and are the most important prognostic factor 5
• Hypergammaglobulinemia - Particularly elevated IgM levels 4, 5
• Positive antimitochondrial antibodies (AMA) - Present in 83-90% of patients 5, 2

Clinical Presentation Patterns

• Asymptomatic presentation - Approximately 40% of patients are asymptomatic at diagnosis, identified through abnormal liver tests 5
• Symptomatic presentation - Patients presenting with symptoms (particularly fatigue and pruritus) tend to be younger, predominantly female, have more biochemically active disease, and experience worse outcomes 1
• Advanced presentation - Some patients present with complications of cirrhosis as their first manifestation 2

Important Considerations

• Disease progression - Patients presenting with fatigue and/or pruritus have a more aggressive disease course with less response to treatment and faster progression to cirrhosis 1
• Monitoring needs - Regular assessment for worsening liver function is essential, as symptoms like nausea, vomiting, abdominal pain, weight loss, and new/worsening fatigue may indicate disease progression 6
• Medication side effects - Treatment with obeticholic acid can cause severe pruritus that requires management 6

Warning Signs Requiring Immediate Medical Attention

• Signs of hepatic decompensation - Ascites, jaundice, variceal bleeding, or hepatic encephalopathy 6
• Complete biliary obstruction symptoms 6
• Severe or persistent non-specific symptoms - Including nausea, vomiting, abdominal pain, diarrhea, weight loss, fever, chills, worsening fatigue, weakness, or dehydration 6