Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged. This leads to the buildup of bile, causing scarring, cirrhosis, and eventual liver failure.
PBC is also considered an autoimmune disease in which the immune system malfunctions and mistakenly attacks a person’s healthy bile duct cells, causing the inflammation and damage.
Etiology
PBC is thought to be caused by a combination of genetic susceptibility and environmental triggers. Various environmental triggers have been observed in animal models, including:
- Urinary tract infection
- Reproductive hormone replacement
- Nail polish
- Cigarette smoking
- Xenobiotics
- Toxic waste sites
PBC is most common in women ages 30 to 60 years.
Signs and Symptoms
Many people do not have symptoms when they are first diagnosed and may not develop symptoms for several years. Early symptoms may include fatigue (the most common symptom), itchy skin, and abdominal pain.
As the disease progresses, patients with PBC may develop:
- Weakness
- Nausea
- Diarrhea
- Swelling in the legs and feet (edema)
- Bone and joint pain
- Jaundice
- Dark urine
- Xanthomas
Diagnosis
The diagnosis of PBC typically involves blood tests, imaging studies such as X-ray or ultrasound, and sometimes, a liver biopsy. Blood tests may include tests for anti-mitochondrial antibodies, liver function tests, and cholesterol tests. Abnormal blood test results commonly lead to the diagnosis in people with PBC who do not have symptoms.
Management Strategies and Treatment
Management strategies for PBC focus on slowing disease progression and individualized symptom management. Ursodeoxycholic acid (UDCA), a hydrophilic bile salt, is approved by the FDA for the treatment of PBC. This treatment stabilizes hepatocyte membranes against toxic bile salts, inhibiting apoptosis and fibrosis. Obeticholic acid (OBCA) is an alternative farnesoid X receptor agonist that is approved to be used in addition to UDCA in unresponsive patients.
Recently, two peroxisome proliferator-activated receptor (PPAR) agonists have been approved: seladelpar and elafibranor. These therapies are also approved for use in combination with UDCA to patients who are unresponsive to the treatment.
For a list of clinical trials relating to PBC, click here.
Resources
Genetic and Rare Diseases (GARD) Information Center
Primary Biliary Cholangitis Organization
References
Pandit S, Samant H. Primary Biliary Cholangitis. [Updated 2023]. In: StatPearls [Internet]. Available at https://www.ncbi.nlm.nih.gov/books/NBK459209/
To learn more about rare hematologic disorders, visit https://checkrare.com/diseases/hematologic-disorders/
