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Anticentromere antibodies are found to be positive in approximately 80% of patients with CREST syndrome. (CREST syndrome stands for calcinosis, Raynaud's phenomenon, (o)esophageal dysfunction, sclerodactyly and telangiectasia). This patient is displaying symptoms, signs and risk factors of primary biliary cholangitis, therefore, anticentromere antibodies are unlikely to be positive. However, CREST syndrome is a common risk factor for developing primary biliary cholangitis
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Anticentromere antibodies
QuestionChoice
Roughly 35% of primary biliary cholangitis patients will be positive for antinuclear antibodies, however these are less specific than antimitochondrial antibodies
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Antinuclear antibodies
QuestionChoice
This patient is presenting with symptoms, signs and risk factors of primary biliary cholangitis. This is an autoimmune disease that can lead to primary biliary cirrhosis (which primary biliary cholangitis used to be called but is now only used in the late stages). It is often found incidentally, as it is often asymptomatic in the early phases. Approximately 90% of affected individuals will be positive for antimitochondrial antibodies
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Antimitochondrial antibodies
QuestionChoice
Anti-Jo antibodies are most likely to be positive in polymyositis and dermatomyositis. These both lead to problems predominantly of the connective tissues. Therefore, anti-Jo antibodies are unlikely to be positive in this case
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Anti-Jo antibodies
QuestionChoice
Anti-Ro antibodies are most likely to be positive in Sjogren's syndrome, or less commonly Systemic Lupus Erythematosus (SLE). Sjogren's syndrome is a common feature of the history of individuals who present with primary biliary cholangitis. However, in this case, the patient has fatigue, pruritus and hepatomegaly, which all suggest primary biliary cholangitis rather than Sjogren's syndrome
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Anti-Ro antibodies
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# Summary

Primary biliary cholangitis (PBC) is an autoimmune condition that causes granulomatous inflammation of primarily the intrahepatic bile ducts, resulting in scarring and eventually leading to liver cirrhosis. It primarily affects women under 40 years of age, with men making up about 10% of cases. Patients typically present with fatigue, itching, dry skin, dry eyes, and jaundice. They also have a higher risk of developing hepatocellular carcinoma. Diagnosis is typically through abnormal liver function tests, positive anti-mitochondrial antibodies in over 90% of individuals, abdominal ultrasound, and liver biopsy. Management is primarily supportive, including the use of ursodeoxycholic acid, cholestyramine, vitamin supplements, and liver transplantation, although the disease may recur after transplantation.

# Definition

Primary biliary cholangitis (PBC), formerly known as primary biliary cirrhosis, is an autoimmune disease that results in scarring and inflammation of the bile ducts, leading to eventual liver cirrhosis.

# Epidemiology

PBC predominantly affects women, with approximately 25% of patients being women under 40 years of age. Men comprise about 10% of patients.

# Aetiology

The exact cause of PBC is unknown, but it is thought to be due to a combination of genetic predisposition and environmental factors. The disease results from an autoimmune response that targets the small bile ducts within the liver. Risk factors include:

- Previous family history of PBC
- Female
- Smoking
- Predisposition to other autoimmune conditions (80% have Sjogren’s)

# Signs and Symptoms

PBC can initially be asymptomatic and only suspected due to incidental cholestatic LFTs.

- Extreme fatigue
- Pruritus (itching)
- Xerosis (dry skin)
- Sicca syndrome (dry eyes)
- RUQ pain
- Xanthelasma
- Clubbing
- Jaundice
- Late signs include sequalae of chronic liver disease

Patients with PBC also have an increased risk of developing hepatocellular carcinoma, and if this occurs, the prognosis is generally poor.

# Differential Diagnosis

Other conditions that may present with similar symptoms as PBC include:

- Autoimmune hepatitis: Presents with fatigue, jaundice, hepatomegaly, or splenomegaly.
- Chronic viral hepatitis: Symptoms include fatigue, mild right upper quadrant discomfort, and jaundice.
- Primary sclerosing cholangitis: Presents with pruritus, fatigue, and jaundice.
- Alcoholic liver disease: Presents with jaundice, hepatomegaly, and signs of chronic liver disease.

# Investigations

Bloods:

- Abnormal liver function tests with a cholestatic picture. If late stage with chronic liver disease there may also be an impact on synthetic function of the liver (deranged clotting, low albumin)
- Positive **Anti-mitochondrial antibodies (AMAs)** in >90% of individuals
- Raised serum IgM

Imaging:

- Abdominal ultrasound to visualise the liver is a first line investigation to rule out extrahepatic biliary obstruction
- MRCP is the gold standard for visualising the liver and bile ducts

Invasive:

- Liver biopsy is the gold standard for diagnosis, showing inflammation and scarring and granulomas around the bile duct

# Management

The management of PBC is largely supportive and includes the following:

- Ursodeoxycholic acid to slow disease progression by promoting bile flow
- Cholestyramine for relief of pruritus
- Vitamin supplements to manage deficiencies
- Liver transplantation in advanced cases, often once bilirubin is >100 this is considered (Note: PBC may recur after transplantation) 

# Complications

- Chronic liver disease eventually leads to cirrhosis, which can result in complications such as portal hypertension, deranged clotting (with increased risk of GI bleeding) and ascites
- Osteomalacia is an important consideration (as bile salts are needed to emulsify fats to absorb fat-soluble vitamins like vitamin D) considering many affected patients are middle-aged/postmenopausal females who are already at risk of osteomalacia

# References

[Click here to see more information on PBC on rarediseases.org](https://rarediseases.org/rare-diseases/primary-biliary-cholangitis/)
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Primary Biliary Cholangitis
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Gastroenterology
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Primary Biliary Cholangitis
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Quesmed Tutorial: Liver Function Tests
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Antimitochondrial antibodies are highly specific for Primary Biliary Cholangitis, present in approximately 90% of affected individuals.
A 66-year-old woman presents to her GP with increasing fatigue and pruritus. On examination, hepatomegaly is present. She has a past medical history of obesity, hyperthyroidism and coeliac disease. 

You suspect a diagnosis of Primary Biliary Cholangitis. Which of the following blood tests will be most specific to this condition?
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