From the Guidelines
Primary biliary cirrhosis (PBC) can be diagnosed with confidence in adult patients with otherwise unexplained elevation of alkaline phosphatase (AP) and presence of antimitochondrial antibodies (AMA) at a titer of 1:40 or higher, without the need for a liver biopsy in these cases. The diagnosis of PBC typically involves a combination of clinical findings, laboratory tests, and sometimes liver biopsy, with the presence of AMA being a key criterion 1. According to the EASL clinical practice guidelines, a diagnosis of PBC can be made with confidence in adult patients with otherwise unexplained elevation of AP and presence of AMA (P1:40) and/or AMA type M2, and a liver biopsy is not essential for the diagnosis of PBC in these patients, but allows activity and stage of the disease to be assessed 1.
Key Diagnostic Criteria
- Elevated alkaline phosphatase levels (at least 1.5 times the upper limit of normal)
- Presence of antimitochondrial antibodies (AMAs) at a titer of 1:40 or higher
- Characteristic liver biopsy findings showing nonsuppurative destructive cholangitis and destruction of interlobular bile ducts
Laboratory Tests and Imaging Studies
Other laboratory abnormalities may include elevated gamma-glutamyl transferase, mild elevations in aminotransferases, increased IgM levels, and elevated bilirubin in advanced disease 1. Imaging studies like ultrasound, CT, or MRI may be performed to rule out other causes of cholestasis. Ultrasound is the first-line non-invasive imaging procedure to differentiate intra- from extrahepatic cholestasis, and magnetic resonance cholangiopancreatography (MRCP) is the next step to be considered in patients with unexplained cholestasis 1.
Importance of Early Diagnosis
Early diagnosis is important as treatment with ursodeoxycholic acid (UDCA) at 13-15 mg/kg/day can slow disease progression and improve outcomes when started early. A detailed history and physical examination are essential, and testing for serum antimitochondrial antibodies (AMA) is mandatory in adults with chronic intrahepatic cholestasis 1.
From the FDA Drug Label
OCALIVA® is indicated for the treatment of adult patients with primary biliary cholangitis (PBC) without cirrhosis or with compensated cirrhosis who do not have evidence of portal hypertension, either in combination with ursodeoxycholic acid (UDCA) with an inadequate response to UDCA or as monotherapy in patients unable to tolerate UDCA The diagnosis of primary biliary cirrhosis is not directly supported by the provided drug labels, as they discuss the treatment and management of the condition rather than its diagnosis.
From the Research
Primary Biliary Cirrhosis Diagnosis
- Primary biliary cirrhosis (PBC) is an autoimmune, slowly progressive, cholestatic, liver disease characterized by a triad of chronic cholestasis, circulating anti-mitochondrial antibodies (AMA), and characteristic liver biopsy findings of nonsuppurative destructive cholangitis and interlobular bile duct destruction 2.
- The diagnosis of PBC is based on the presence of at least 2 of 3 key criteria including a persistently elevated serum alkaline phosphatase, the presence of serum AMAs, and liver histology consistent with PBC 3.
- Anti-nuclear antibodies specific to PBC are useful in cases in which AMAs are not detected and may indicate a more aggressive course 3.
- The hallmark of the disease is the presence of antimitochondrial antibodies (AMAs), which are found in 95% of patients with PBC 4.
Diagnostic Criteria
- A persistently elevated serum alkaline phosphatase 3
- The presence of serum AMAs 3
- Liver histology consistent with PBC 3
- Anti-nuclear antibodies specific to PBC 3
Associated Conditions
Treatment
- Ursodeoxycholic acid is the primary therapy for PBC and works partly by reducing the concentration and injury from relatively toxic bile acids 2, 4.
- Obeticholic acid and fibrate are promising new, but incompletely tested, therapies for PBC 5, 6.
- Liver transplantation is the definitive therapy for advanced disease, with about 70% 10-year survival after transplantation 2.