Materiały źródłowe

• #1 The Diagnosis of Primary Biliary Cirrhosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3987745/

  Primary biliary cirrhosis (PBC) is a chronic liver disease characterized by the immune mediated destruction of small intrahepatic bile duct epithelial cells leading to cholestasis and cirrhosis. […] 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 AMA, and liver histology consistent with PBC. […] The diagnosis of PBC should be suspected when there is an elevation of serum alkaline phosphatase (ALP), other signs of cholestasis including jaundice or pruritus, and cirrhosis of unknown cause. […] The diagnosis of PBC can be established if two of three objective criteria are present: serum AMA at titers 1:40, unexplained elevated ALP 1.5 times the upper normal value for over 24 weeks and compatible liver histology, specifically nonsupporative cholangitis and interlobular bile duct injury.

• #1 Diagnosis of Primary Biliary Cholangitis (Primary Biliary Cirrhosis) – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/primary-biliary-cholangitis/diagnosis

  Doctors diagnose primary biliary cholangitis based on your medical and family history, a physical exam, and the results of medical tests. […] Your doctor may diagnose primary biliary cholangitis if you have anti-mitochondrial antibodies and higher-than-normal levels of alkaline phosphatase in your blood, even if you have no other signs or symptoms of the disease. […] Your doctor may perform a liver biopsy to confirm the diagnosis of primary biliary cholangitis.

• #1 Primary biliary cholangitis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis/diagnosis-treatment/drc-20376880

  Your healthcare professional will ask you about your health history and your family’s health history, and perform a physical exam. The following tests and procedures may be used to diagnose primary biliary cholangitis. […] Blood tests may be done to check for anti-mitochondrial antibodies, also known as AMAs. These substances almost never occur in people without the disease, even if they have other liver disorders. Therefore, a positive AMA test is considered a very reliable sign of the disease. However, a small number of people with primary biliary cirrhosis don’t have AMAs. […] Imaging tests may help your healthcare team confirm a diagnosis or rule out other conditions with similar signs and symptoms. […] If the diagnosis is still uncertain, your healthcare professional may perform a liver biopsy. A small sample of liver tissue is removed through an incision using a thin needle. It’s then tested in a lab, either to confirm the diagnosis or to determine the extent of the disease.

• #1 Primary Biliary Cholangitis (Primary Biliary Cirrhosis) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171117-workup

  To fulfill the diagnosis of primary biliary cholangitis (PBC), patients must meet at least two out of the three following diagnostic criteria: […] The hallmark of this disease is the presence of serum antimitochondrial antibodies (AMAs). […] AMAs can be found in 90-95% of patients with primary biliary cholangitis, and they have a specificity of 98% for this disease. […] Some patients have clinical, biochemical, and histologic features of primary biliary cholangitis, but their sera are negative for AMA. These patients are thought to have AMA-negative PBC, particularly if they are positive for PBC-specific ANAs, including anti-sp100 and anti-gp210. […] The natural history and associated autoimmune conditions in AMA-positive and AMA-negative primary biliary cholangitis appear to be identical.

• #1 Primary Biliary Cholangitis (Primary Biliary Cirrhosis): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/171117-overview

  Imaging studies include abdominal ultrasonography, CT scanning, or MRI which are important to exclude biliary obstruction. […] Once cirrhosis develops, findings compatible with portal hypertension can be observed, including the following: Nodular appearance of the liver, Splenomegaly, Intra-abdominal varices, Ascites. […] In patients with cirrhosis, follow-up imaging every 6 months with abdominal ultrasonography is recommended for early detection of hepatic malignancy. […] The Mayo risk score is calculated as follows: R = 0.871 loge (bilirubin in mg/dL) + (2.53) loge (albumin in g/dL) + 0.039 age in years + 2.38 loge (prothrombin time in seconds) + 0.859 (edema score of 0, 0.5, or 1). […] A report reassessed the Mayo risk score, taking into consideration other factors found to be important in the timing of transplantation in patients with chronic cholestatic liver disease.

• #1 Primary Biliary Cholangitis – PBC | Choose the Right Test

  https://arupconsult.com/content/primary-biliary-cirrhosis

  The majority of patients with PBC exhibit elevated ALP, and may exhibit elevated serum transaminase (specifically ALT or aspartate aminotransferase [AST]) activity. Sustained elevation of ALP for 6 months is characteristic of PBC. […] AMAs are present in 90% of patients with PBC. AMA testing is not useful in the absence of symptoms, as the frequency of AMAs in the general population is reported to be high (up to one per 1,000), but the frequency of PBC is much lower (19-402 per million individuals). […] ANAs, particularly anti-gp210 and/or anti-sp100, are present in approximately 30% of patients with PBC; their presence may correlate with prognosis. […] In cases in which a diagnosis of PBC cannot be established via serologic testing, imaging, or liver biopsy, but clinical suspicion persists, genetic testing may be performed for inherited cholestatic disorders. […] Liver biopsy is not required for diagnosis in the majority of patients. However, biopsy may be required to diagnose genuinely antibody-negative disease or disease that cannot be detected via imaging, or in patients with suspected concurrent AIH, nonalcoholic steatohepatitis, or other comorbidities.

• #1 Primary Biliary Cholangitis (Primary Biliary Cirrhosis) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171117-workup

  Histologic confirmation of primary biliary cholangitis (PBC) through liver biopsy is not needed for diagnosis if a patient meets the two other diagnostic criteria for PBC (elevated ALP and positive AMA). […] Primary biliary cholangitis is characterized by chronic, nonsuppurative, destructive cholangitis of the small interlobular bile ducts (florid duct lesions) with a diameter of 40-80 mm. […] Various staging systems have been developed, but the most prominent are those proposed by Ludwig et al and Scheuer.

• #1

  https://link.springer.com/article/10.1007/s12072-021-10276-6

  The diagnosis of PBC can be established when meeting two or more of the following three criteria: (I, 1) 1. Biochemical evidence of cholestasis based mainly on the elevation of ALP and GGT with the exclusion of extrahepatic biliary obstruction by imaging studies; 2. Presence of AMA or other PBC-specific ANAs including anti-sp100 or anti-gp210; 3. Histologic evidence of non-suppurative destructive cholangitis mainly affecting the interlobular bile ducts. […] AMA, particularly the AMA-M2 subtype, is a serological diagnostic hallmark for PBC, with sensitivity and specificity being 90-95%. AMAs recognize 2-oxo acid dehydrogenase complex (2-OADC) located at the inner membrane of the mitochondria, which mainly includes the E2 component of the pyruvate dehydrogenase complex (PDC-E2), branched-chain 2-OADC (BCOADC-E2), 2-oxo-glutaric acid dehydrogenase complex (OGDC-E2), and dihydrolipoamide dehydrogenase binding protein (E3BP). Of note is that the serum level of AMA does not reflect the disease severity of PBC. […] The differential diagnosis of PBC includes extrahepatic or intrahepatic cholestasis of any other causes. Of note is that PSC is characterized by multi-focal bile duct strictures, which can involve intrahepatic, extrahepatic bile ducts, or both.

• #1 Primary Biliary Cholangitis (PBC) – Hepatic and Biliary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hepatic-and-biliary-disorders/fibrosis-and-cirrhosis/primary-biliary-cholangitis-pbc

  Liver biopsy is required to confirm AMA-negative PBC. Liver biopsy helps to rule out other cholestatic diagnoses (drug-induced liver disease, sarcoidosis, PBC, biliary obstruction, autoimmune hepatitis) or coexisting liver diseases are suspected (autoimmune hepatitis or nonalcoholic steatohepatitis). […] Liver transplantation has excellent results. The general indication is decompensated liver disease (uncontrolled variceal bleeding, refractory ascites, intractable pruritus, and hepatic encephalopathy). […] AMA-negative PBC has similar treatment response to ursodeoxycholic acid.

• #1 Primary biliary cholangitis. What it is, symptoms, diagnosis and treatment. CUN

  https://www.cun.es/en/diseases-treatments/diseases/cholangitis-biliary-primary

  „In the Clinic we have all the necessary tools for the non-invasive and invasive diagnosis of primary biliary cholangitis. In the same way it is possible to perform radiological tests to rule out the complications of this disease.” […] „Primary biliary cholangitis is typically diagnosed by elevated cholestasis rates (GGT and Alkaline Phosphatase) and to a lesser extent transaminases (AST and ALT) and elevated cholesterol levels.” […] „In more advanced stages, elevation of bilirubin, decrease of albumin levels, lengthening of prothrombin time and decrease of platelet count can be observed.” […] „Anti-mitochondrial autoantibodies (AMA) are found in 90% of patients with primary biliary cholangitis.” […] „A liver biopsy may be necessary for diagnostic confirmation.” […] „In a small subgroup of patients primary cholangitis occurs together with autoimmune hepatitis (overlap syndrome).” […] „In these patients, laboratory data are not sufficient for diagnosis and a liver biopsy is essential.” […] „Performing liver ultrasound and elastography allows the detection of complications such as cirrhosis and liver tumor (hepatocarcinoma).”

• #1 Rare and Serious Liver Diseases – Intercept Pharmaceuticals

  https://www.interceptpharma.com/our-focus/pbc/

  Primary biliary cholangitis (PBC) is a rare liver disease that is caused by an autoimmune reaction. […] If left untreated, PBC can get significantly worse in 2 years, making it important to get an early diagnosis to start treatment as quickly as possible. […] Once someone is diagnosed with PBC, it is important to talk to a doctor about getting regular liver function tests to track the progression of the disease. […] Doctors can test for PBC by taking blood samples and measuring certain chemicals related to liver function. The tests will show if there are elevated levels of alkaline phosphatase (ALP) and if antimitochondrial antibodies (AMAs) are present, which can be indicators of PBC.

• #1 Diagnosis, Treatment, and Monitoring of Patients With Primary Biliary Cholangitis – Gastroenterology & Hepatology

  https://www.gastroenterologyandhepatology.net/archives/september-2016/diagnosis-treatment-and-monitoring-of-patients-with-primary-biliary-cholangitis/

  FP Biopsy remains an important tool in the assessment of a patient with PBC. It helps to assess the clinical scenario and to determine whether any AST or ALT elevations are due to fatty liver or are autoimmune in nature. However, a biopsy may not strictly be necessary to obtain the PBC diagnosis. […] FP The most common symptom reported by patients with PBC is fatigue, followed by pruritus. Often, the suspicion of PBC is raised based upon clinical symptoms and then followed up with appropriate tests. […] FP It is important that clinicians manage the patient’s quality of life as well as all of the comorbid conditions that occur with this disease. […] FP Early diagnosis and initiation of treatment as soon as possible are crucial for maximizing outcomes in patients with PBC. […] FP There is a lack of consensus on this issue. Alkaline phosphatase is considered to be a critical biomarker, as a lower alkaline phosphatase level is considered a surrogate for reduced bile duct damage. […] FP Current treatment works in approximately 60% to 70% of patients. Therefore, up to 30% to 40% of patients do not respond to UDCA, and there is still a need for new therapeutic strategies for patients with PBC.

• #1 Primary biliary cholangitis – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/344

  Primary biliary cholangitis (PBC) is characterised by progressive intrahepatic bile duct damage and loss. […] The combination of a cholestatic pattern of serum liver tests (elevated alkaline phosphatase, gamma-glutamyl transferase, or both) and a PBC-specific autoantibody (typically anti-mitochondrial antibody) is sufficient for diagnosis in most patients, with no need for biopsy confirmation. […] In patients with an inadequate response to ursodeoxycholic acid, second-line options include obeticholic acid, elafibranor, or seladelpar. […] Diagnostic investigations include alkaline phosphatase (ALP), gamma-glutamyl transferase (GTT), bilirubin, alanine aminotransferase (ALT), serum albumin, antimitochondrial antibody (AMA) immunofluorescence, and abdominal ultrasound scan.

• #1 Primary Biliary Cholangitis: How Is It Diagnosed?

  https://www.webmd.com/digestive-disorders/diagnose-primary-biliary-cirrhosis

  Primary biliary cholangitis may not have symptoms early on. Sometimes, your doctor finds out you have it because of a routine blood test. […] Theyll probably order some tests. Those can include blood tests, imaging tests, and maybe a liver biopsy. […] Your doctor will want to do liver function tests to see how the organ is working. They check the levels of certain enzymes that show if you have liver disease. […] The doctor will also do a blood test that checks for something called anti-mitochondrial antibodies, or AMAs. People with PBC almost always have them. If you dont have PBC, you wont have AMAs. […] Your doctor may also want a closer look at your liver, bile ducts, and the surrounding area. The tests may include: […] Your doctor may remove a small sample of your liver tissue with a needle and send it to a lab. This test is usually done at a hospital or medical center, so you can get medicine to make you sleepy and control pain. The sample will be sent to a lab, where a doctor will look at it under a microscope. Not everyone needs this test. You might get one if your AMA blood test is negative but you have other signs of PBC.

• #1 Primary Biliary Cholangitis: Symptoms & Causes

  https://liverfoundation.org/liver-diseases/autoimmune-liver-diseases/primary-biliary-cholangitis-pbc/

  There is no cure for Primary Biliary Cholangitis (PBC), however, there are medications that can help slow disease progression and manage symptoms. Ursodiol (brand names Actigall, URSO 250, URSO Forte) is a naturally occurring bile acid (ursodeoxycholic acid or UDCA) that helps move bile out of the liver and into the small intestine. If used early enough, Ursodiol can improve liver function and may keep you from needing, or delay the need for a liver transplant. […] In May 2016, obeticholic acid (brand name Ocaliva) was approved for the treatment of Primary Biliary Cholangitis (PBC) in combination with UDCA in adults with an inadequate response to UDCA, or as a single therapy in adults unable to tolerate UDCA. […] Liver transplantation is considered when medical treatment no longer sufficiently controls the disease. When a person has end-stage liver disease, a liver transplant is necessary for survival.

• #2 Primary Biliary Cholangitis (PBC) – Hepatic and Biliary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hepatic-and-biliary-disorders/fibrosis-and-cirrhosis/primary-biliary-cholangitis-pbc

  Primary biliary cholangitis (PBC; formerly known as primary biliary cirrhosis) is an autoimmune liver disorder characterized by the progressive destruction of intrahepatic bile ducts, leading to cholestasis, cirrhosis, and liver failure. […] Laboratory tests reveal cholestasis, increased IgM, and, characteristically, antimitochondrial antibody in the serum. Liver biopsy may be necessary for diagnosis and staging. […] Diagnosis is confirmed if 2 of the previous 3 criteria are present (1). […] In asymptomatic patients, primary biliary cholangitis (PBC) is detected incidentally when liver tests detect abnormalities, typically elevated levels of alkaline phosphatase and gamma-glutamyl transpeptidase (GGT). PBC is suspected in middle-aged women with classic symptoms (eg, unexplained pruritus, fatigue, right upper quadrant discomfort, jaundice) or laboratory results suggesting cholestatic liver disease: elevated alkaline phosphatase (usually higher than 1.5 times the normal range) and GGT but minimally abnormal aminotransferases (alanine aminotransferase [ALT], aspartate aminotransferase [AST], usually less than 5 times normal ranges).

• #2

  https://link.springer.com/article/10.1007/s12072-021-10276-6

  The diagnosis of PBC can be established when meeting two or more of the following three criteria: (I, 1) 1. Biochemical evidence of cholestasis based mainly on the elevation of ALP and GGT with the exclusion of extrahepatic biliary obstruction by imaging studies; 2. Presence of AMA or other PBC-specific ANAs including anti-sp100 or anti-gp210; 3. Histologic evidence of non-suppurative destructive cholangitis mainly affecting the interlobular bile ducts. […] AMA, particularly the AMA-M2 subtype, is a serological diagnostic hallmark for PBC, with sensitivity and specificity being 90-95%. AMAs recognize 2-oxo acid dehydrogenase complex (2-OADC) located at the inner membrane of the mitochondria, which mainly includes the E2 component of the pyruvate dehydrogenase complex (PDC-E2), branched-chain 2-OADC (BCOADC-E2), 2-oxo-glutaric acid dehydrogenase complex (OGDC-E2), and dihydrolipoamide dehydrogenase binding protein (E3BP). Of note is that the serum level of AMA does not reflect the disease severity of PBC. […] The differential diagnosis of PBC includes extrahepatic or intrahepatic cholestasis of any other causes. Of note is that PSC is characterized by multi-focal bile duct strictures, which can involve intrahepatic, extrahepatic bile ducts, or both.

• #2 Primary Biliary Cholangitis – PBC | Choose the Right Test

  https://arupconsult.com/content/primary-biliary-cirrhosis

  Primary biliary cholangitis (PBC), previously referred to as primary biliary cirrhosis, is an autoimmune liver disorder characterized by chronic, progressive cholestatic disease. If untreated, PBC leads to cirrhosis, or scarring of the entire liver, which can result in liver failure. […] Laboratory tests in the workup of PBC include liver biochemistry tests (such as alkaline phosphatase [ALP] and aminotransferase tests) and tests for autoantibodies (including antimitochondrial M2 antibodies [AMAs] and antinuclear antibodies [ANAs] such as anti-sp100 and antiglycoprotein 210 [anti-gp210] antibodies). Liver biochemistry tests can be used for prognosis and for monitoring treatment response. […] Diagnosis of PBC or PBC/AIH overlap syndrome is based on cholestatic liver biochemistry, the presence of PBC-specific autoantibodies, and if needed, imaging, liver biopsy, or genetic testing.

• #2 Primary Biliary Cholangitis (Primary Biliary Cirrhosis) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171117-workup

  To fulfill the diagnosis of primary biliary cholangitis (PBC), patients must meet at least two out of the three following diagnostic criteria: […] The hallmark of this disease is the presence of serum antimitochondrial antibodies (AMAs). […] AMAs can be found in 90-95% of patients with primary biliary cholangitis, and they have a specificity of 98% for this disease. […] Some patients have clinical, biochemical, and histologic features of primary biliary cholangitis, but their sera are negative for AMA. These patients are thought to have AMA-negative PBC, particularly if they are positive for PBC-specific ANAs, including anti-sp100 and anti-gp210. […] The natural history and associated autoimmune conditions in AMA-positive and AMA-negative primary biliary cholangitis appear to be identical.

• #2 The Diagnosis of Primary Biliary Cirrhosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3987745/

  In contrast, when the AMA is negative, a diagnosis of PBC is based upon abnormal serum ALP levels and liver histology. […] The presence of AMA in PBC sera was first recognized in 1965 by Walker and colleagues and in 1987 the AMA antigens were cloned and identified. […] Several methods are available for AMA testing. […] The need for liver biopsy in AMA-positive PBC remains controversial. […] Liver biopsy is required when the AMA is absent in order to differentiate AMA-negative PBC from other conditions, including small-duct primary sclerosing cholangitis, sarcoidosis, or drug-induced cholestasis. […] Several diagnostic criteria have been proposed, but none have been validated or accepted. […] The diagnosis of PBC can be established if two of three objective criteria are present: serum AMA at titers 1:40, unexplained elevated ALP 1.5 times the upper normal value for over 24 weeks and compatible liver histology, specifically nonsupporative cholangitis and interlobular bile duct injury.

• #2 Primary Biliary Cholangitis: What It Is, Symptoms, Treatment

  https://my.clevelandclinic.org/health/diseases/17715-primary-biliary-cholangitis-pbc

  If your test results are positive for PBC, your provider will want to look at images of your liver and biliary system next. This helps to rule out other possible causes of your symptoms, and can also help show how advanced the disease is. […] About 5% of people with PBC test negative for AMA but have other signs and symptoms. In this case, your provider may need to take a liver biopsy to confirm you have PBC. They can usually do this as a bedside procedure using a needle inserted into your liver. The needle will withdraw a tiny tissue sample, and your provider will send the sample to a lab for examination under a microscope. […] Theres no cure for PBC, but you can slow it down and improve your condition with medication. Ursodeoxycholic acid (UDCA) is a type of bile salt that can help clear bile from your liver and reduce liver damage. It works well for about half of people with PBC, especially in the early stages.

• #2 Primary biliary cholangitis: diagnosis and management – The Pharmaceutical Journal

  https://pharmaceutical-journal.com/article/ld/primary-biliary-cholangitis-diagnosis-and-management

  All patients with suspected PBC should have a baseline abdominal ultrasound scan as part of their investigation to exclude extrahepatic causes of cholestasis, and to identify any features of advanced PBC such as splenomegaly, ascites, portal hypertension and focal liver lesions. Liver biopsy is not routinely recommended, owing to the variable nature of PBC histology confounding diagnosis. Non-invasive techniques, such as transient elastography (FibroScan), are preferred for determining disease stage.

• #2 Primary Biliary Cholangitis (Primary Biliary Cirrhosis) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171117-workup

  Histologic confirmation of primary biliary cholangitis (PBC) through liver biopsy is not needed for diagnosis if a patient meets the two other diagnostic criteria for PBC (elevated ALP and positive AMA). […] Primary biliary cholangitis is characterized by chronic, nonsuppurative, destructive cholangitis of the small interlobular bile ducts (florid duct lesions) with a diameter of 40-80 mm. […] Various staging systems have been developed, but the most prominent are those proposed by Ludwig et al and Scheuer.

• #2 Primary biliary cholangitis – Wikipedia

  https://en.wikipedia.org/wiki/Primary_biliary_cholangitis

  The Ludwig and Scheuer scoring systems have historically been used to stratify four stages of PBC, with stage 4 indicating the presence of cirrhosis. […] Liver biopsy for the diagnosis and staging of PBC lost favour after the evidence of a patchy distribution of the duct lesions and fibrosis across the organ.

• #2 Orphanet: Primary biliary cholangitis

  https://www.orpha.net/en/disease/detail/186

  A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis. […] In adult patients with cholestasis (elevated alkaline phosphatase (ALP) and/or gammaglutamyltransferase (GGT)), PBC can be suspected after excluding obstructive jaundice by abdominal ultrasound and systemic diseases. Diagnosis can be made when disease-specific autoantibodies are detected (i.e. antimitochondrial autoantibodies (AMA titer1:40) and anti-nuclear autoantibodies (ANA) anti-sp100 and anti-gp210). A liver biopsy is recommended when PBC-specific antibodies are absent, autoimmune hepatitis (AIH) or non-alcoholic steatohepatitis (NASH) are suspected, or when other systemic co-morbidities are present and may have a role in the differential diagnosis of cholestasis. […] Differential diagnoses include autoimmune hepatitis, primary sclerosing cholangitis, alcoholic and non-alcoholic steatohepatitis and drug-induced hepatotoxicity.

• #2

  https://journals.lww.com/ajg/fulltext/2019/01000/diagnosis_and_management_of_primary_biliary.13.aspx

  The most obvious scenario for confirming the diagnosis of PBC is the first scenario, a patient who is AMA positive with an elevated ALP. […] Additionally, the second and third scenarios can represent AMA-negative PBC, which require additional assessment. […] This panel recommends that a liver biopsy be considered for patients with high suspicion for PBC, elevated ALP but negative AMA.

• #2 Primary Biliary Cholangitis – PBC | Choose the Right Test

  https://arupconsult.com/content/primary-biliary-cirrhosis

  The majority of patients with PBC exhibit elevated ALP, and may exhibit elevated serum transaminase (specifically ALT or aspartate aminotransferase [AST]) activity. Sustained elevation of ALP for 6 months is characteristic of PBC. […] AMAs are present in 90% of patients with PBC. AMA testing is not useful in the absence of symptoms, as the frequency of AMAs in the general population is reported to be high (up to one per 1,000), but the frequency of PBC is much lower (19-402 per million individuals). […] ANAs, particularly anti-gp210 and/or anti-sp100, are present in approximately 30% of patients with PBC; their presence may correlate with prognosis. […] In cases in which a diagnosis of PBC cannot be established via serologic testing, imaging, or liver biopsy, but clinical suspicion persists, genetic testing may be performed for inherited cholestatic disorders. […] Liver biopsy is not required for diagnosis in the majority of patients. However, biopsy may be required to diagnose genuinely antibody-negative disease or disease that cannot be detected via imaging, or in patients with suspected concurrent AIH, nonalcoholic steatohepatitis, or other comorbidities.

• #2 Primary Biliary Cholangitis (Primary Biliary Cirrhosis): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/171117-overview

  For asymptomatic patients with antimitochondrial antibody (AMA) positive findings, a normal biochemical liver profile, and histologic features that are compatible with primary biliary cholangitis, the progression of the disease is relatively slow; however, the patient life expectancy is not identical to that of the general population.

• #2 Primary Biliary Cholangitis: Symptoms & Causes

  https://liverfoundation.org/liver-diseases/autoimmune-liver-diseases/primary-biliary-cholangitis-pbc/

  There is no cure for Primary Biliary Cholangitis (PBC), however, there are medications that can help slow disease progression and manage symptoms. Ursodiol (brand names Actigall, URSO 250, URSO Forte) is a naturally occurring bile acid (ursodeoxycholic acid or UDCA) that helps move bile out of the liver and into the small intestine. If used early enough, Ursodiol can improve liver function and may keep you from needing, or delay the need for a liver transplant. […] In May 2016, obeticholic acid (brand name Ocaliva) was approved for the treatment of Primary Biliary Cholangitis (PBC) in combination with UDCA in adults with an inadequate response to UDCA, or as a single therapy in adults unable to tolerate UDCA. […] Liver transplantation is considered when medical treatment no longer sufficiently controls the disease. When a person has end-stage liver disease, a liver transplant is necessary for survival.

• #2

  https://meddocsonline.org/annals-of-gastroenterology-and-the-digestive-system/Primary-biliary-cholangitis-From-diagnosis-to-treatment.html

  Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis and which has been designated an orphan condition, is a chronic autoimmune disease resulting in the destruction of the small bile ducts in the liver. […] The diagnostic process should follow a step-by-step approach, beginning with the anamnesis and physical examination, followed by laboratory tests and non-invasive assessment, and finishing with invasive evaluation (as liver biopsy) when needed. […] The presence of auto antibodies AMAs is a clinical hallmark and important diagnostic feature of PBC. AMA is found in nearly 95% of patients with PBC. […] Currently, a diagnosis of PBC can be made with confidence on the basis of two of three following criteria: the presence of biochemical cholestasis (elevation of ALP of liver origin for at least 6 months), presence of AMA (1:40) and typical histological features of florid bile duct lesions.

• #3 Primary Biliary Cholangitis (PBC) – Hepatic and Biliary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hepatic-and-biliary-disorders/fibrosis-and-cirrhosis/primary-biliary-cholangitis-pbc

  Primary biliary cholangitis (PBC; formerly known as primary biliary cirrhosis) is an autoimmune liver disorder characterized by the progressive destruction of intrahepatic bile ducts, leading to cholestasis, cirrhosis, and liver failure. […] Laboratory tests reveal cholestasis, increased IgM, and, characteristically, antimitochondrial antibody in the serum. Liver biopsy may be necessary for diagnosis and staging. […] Diagnosis is confirmed if 2 of the previous 3 criteria are present (1). […] In asymptomatic patients, primary biliary cholangitis (PBC) is detected incidentally when liver tests detect abnormalities, typically elevated levels of alkaline phosphatase and gamma-glutamyl transpeptidase (GGT). PBC is suspected in middle-aged women with classic symptoms (eg, unexplained pruritus, fatigue, right upper quadrant discomfort, jaundice) or laboratory results suggesting cholestatic liver disease: elevated alkaline phosphatase (usually higher than 1.5 times the normal range) and GGT but minimally abnormal aminotransferases (alanine aminotransferase [ALT], aspartate aminotransferase [AST], usually less than 5 times normal ranges).

• #3

  https://xiahepublishing.com/2310-8819/JCTH-2022-00347

  The diagnosis of PBC is based on the presence of two of the three criteria: (1) biochemical evidence of cholestasis (ALP and GGT elevation), and exclusion of extrahepatic cholestasis by imaging examinations; (2) presence of AMA/AMA-M2 or other PBC-specific autoantibodies (such as anti-spl00 or anti-gp210); and (3) histologic evidence of non-suppurative destructive cholangitis and destruction of the interlobular bile ducts. […] Liver biopsy is not required for the diagnosis of PBC in patients with cholestasis and PBC-specific autoantibodies (AMA, AMA-M2, anti-sp100, and anti-gp210), but histologic staging can provide prognostic information. […] Liver biopsy is necessary for (1) patients with intrahepatic cholestasis but negative for PBC-specific autoantibodies; (2) PBC patients with unexplained elevation of transaminases AST or ALT 5 times the upper limit of normal (ULN), or with features of other liver diseases (such as AIH, nonalcoholic steatohepatitis or DILI); and (3) PBC patients with suboptimal biochemical response to UDCA.

• #3 Primary biliary cholangitis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis/diagnosis-treatment/drc-20376880

  Your healthcare professional will ask you about your health history and your family’s health history, and perform a physical exam. The following tests and procedures may be used to diagnose primary biliary cholangitis. […] Blood tests may be done to check for anti-mitochondrial antibodies, also known as AMAs. These substances almost never occur in people without the disease, even if they have other liver disorders. Therefore, a positive AMA test is considered a very reliable sign of the disease. However, a small number of people with primary biliary cirrhosis don’t have AMAs. […] Imaging tests may help your healthcare team confirm a diagnosis or rule out other conditions with similar signs and symptoms. […] If the diagnosis is still uncertain, your healthcare professional may perform a liver biopsy. A small sample of liver tissue is removed through an incision using a thin needle. It’s then tested in a lab, either to confirm the diagnosis or to determine the extent of the disease.

• #3 Diagnosis, Treatment, and Monitoring of Patients With Primary Biliary Cholangitis – Gastroenterology & Hepatology

  https://www.gastroenterologyandhepatology.net/archives/september-2016/diagnosis-treatment-and-monitoring-of-patients-with-primary-biliary-cholangitis/

  FP Biopsy remains an important tool in the assessment of a patient with PBC. It helps to assess the clinical scenario and to determine whether any AST or ALT elevations are due to fatty liver or are autoimmune in nature. However, a biopsy may not strictly be necessary to obtain the PBC diagnosis. […] FP The most common symptom reported by patients with PBC is fatigue, followed by pruritus. Often, the suspicion of PBC is raised based upon clinical symptoms and then followed up with appropriate tests. […] FP It is important that clinicians manage the patient’s quality of life as well as all of the comorbid conditions that occur with this disease. […] FP Early diagnosis and initiation of treatment as soon as possible are crucial for maximizing outcomes in patients with PBC. […] FP There is a lack of consensus on this issue. Alkaline phosphatase is considered to be a critical biomarker, as a lower alkaline phosphatase level is considered a surrogate for reduced bile duct damage. […] FP Current treatment works in approximately 60% to 70% of patients. Therefore, up to 30% to 40% of patients do not respond to UDCA, and there is still a need for new therapeutic strategies for patients with PBC.

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