Identifying primary biliary cholangitis involves a series of diagnostic tests to confirm the presence of this liver disease. These tests consist of blood tests, imaging studies, and sometimes a liver biopsy for a definitive diagnosis.
Primary Biliary Cholangitis (PBC) is an autoimmune disease that affects the liver, leading to the destruction of bile ducts within the organ. This article aims to provide insights into the diagnosis and testing process for PBC.
PBC is not a routine part of diagnosis, and genetic testing for the condition typically takes place only at highly specialized facilities. While some people may exhibit symptoms, a significant number - around 61% in a study of 770 individuals - were diagnosed with PBC without showing any symptoms at the time.
Elevations in liver function values tend to be less pronounced in those without symptoms compared to those who have symptoms at the time of testing. However, changes in levels of aspartate aminotransferase (AST), gamma-glutamyltranspeptidase (GGT), and bilirubin may still occur in PBC.
One of the most common symptoms in those who do exhibit symptoms is fatigue and pruritus (generalized itchiness). Other possible symptoms include body aches or joint pain, dry eyes or mouth, pain or discomfort in the abdomen, and nail or skin changes.
In the diagnostic process, a doctor may perform a physical exam and take a medical history if they suspect PBC or another liver disease. They may also check for physical signs of liver disease, such as yellowing of the eyes or skin, or abdominal tenderness.
The presence of liver enzyme abnormalities, even in the absence of symptoms, often leads doctors to suspect PBC. Elevated alkaline phosphatase (ALP) and GGT levels are among the strongest indicators of bile duct diseases such as PBC and may cause a doctor to suspect a larger issue. Increased ALP and GGT levels can also indicate bile duct disease.
A doctor may not order the antimitochondrial antibodies (AMA) test unless they have a strong suspicion that a person has PBC. However, detection of AMA within the blood is a highly specific marker of PBC, regardless of whether a person has symptoms. Up to 95% of people with PBC have AMA in their blood.
In some cases, a person may test positive for AMA but not have PBC. In such instances, the presence of antinuclear antibodies (ANA) may help support the diagnosis of PBC. Tests can also detect ANA in about 50% of people with PBC, including some ANA types that are highly specific for PBC.
Imaging may be used to confirm the diagnosis of PBC, but its role is not specified in the provided information. In rare cases, if imaging or blood tests cannot identify PBC or determine another cause of bile duct disease, a person may undergo genetic testing to find the cause of the disease.
It's important to note that a PBC diagnosis may take several years, even if laboratory results show abnormalities. This highlights the importance of regular check-ups and open communication with healthcare professionals.
Specialized clinics in Germany offering genetic testing for PBC are typically found within university medical centers and hepatology specialty clinics. Patients are generally advised to consult university hospitals with hepatology departments or specialized liver centers for genetic testing related to PBC.
In conclusion, while PBC can be a complex condition to diagnose, understanding the symptoms, laboratory tests, and potential imaging procedures can help individuals and healthcare professionals work together to make accurate and timely diagnoses.
