primary biliary cirrhosis; primary biliary cholangitis
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Introduction
Chronic, progressive cholestatic liver disease primarily of middle-aged women.
Etiology
- autoimmune destruction of the interlobular & septal bile ducts in the liver
- associated disorders
Epidemiology
- occurs predominantly in women 30-65 (40-60) years of age
- does NOT occur in African-Americans
- more common in Western countries, role of hygiene?
Pathology
- antimitochondrial antibodies directed against M2 autoantigen on inner mitochondrial membrane
- granulomatous infiltration of the septal bile ducts
Genetics
- concordance rate in identical twins is 0.63
Clinical manifestations
- 50% of patients are asymptomatic
- symptoms more common in patients with advanced cirrhosis
- pruritus & fatigue are common early symptoms
- dry eyes & dry mouth are common[3]
- weight loss
- generally a progressive disorder
- xanthelasma, xanthomas, hyperpigmentation
- cholestasis & jaundice
- steatorrhea may occur with progressive cholestasis
- fat-soluble vitamin deficiencies
- metabolic bone disease (osteopenia)
- manifestations of Hashimoto's thyroiditis or keratoconjunctivitis sicca
Laboratory
- anti-mitochondrial antibodies (M2) (95%)
- autoantibodies against DLAT
- antinuclear antibodies
- very elevated serum alkaline phosphatase
- 50% above upper limit of normal qualifies for very high (NEJM)[6]
- serum cholesterol: hypercholesterolemia
- increased serum IgM levels
- abnormal liver function tests as later manifestations
- decreased serum albumin
- serum bilirubin: normal to moderatly increased
- prolonged prothrombin time
- serum ALT & serum AST modestly increased
- elevated erythrocyte sedimentation rate (ESR)
- see ARUP consult[4]
Diagnostic procedures
- liver biopsy if antinuclear Ab & anti-mitochondrial Ab negative
- elastograhy for assessment of fibrosis
Radiology
- abdominal ultrasound
- assess extrahepatic bile duct obstruction; may be normal
- screen men & women with cirrhosis for hepatocellular carcinoma
- cholangiography is normal
- bone density scan (DEXA) to assess osteopenia, osteoporosis every 2 years
Complications
Management
- ursodeoxycholic acid (ursodiol [Actigall])
- improves biochemical picture
- improves survival
- reduces need for liver transplantation[3]
- useful for pruritus
- elafibranor (Iqirvo) may be used combination with ursodeoxycholic acid or as monotherapy in patients unable to tolerate ursodeoxycholic acid
- agents used to treat pruritus
- symptomatic treatment of dry eyes & dry mouth[3]
- replace fat-soluble vitamins
- treat osteopenia with bisphosphonate
- treatment options (unproven)
- liver transplantation is curative
- hypercholesterolemia does not predispose to atherosclerosis
* improves biochemical picture
More general terms
Additional terms
- primary sclerosing cholangitis (PSC)
- Sjogren's syndrome (autoimmune epitheliitis)
- ursodeoxycholic acid; ursodiol (Actigall)
References
- ↑ Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 374-75
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 321
- ↑ 3.0 3.1 3.2 3.3 Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2006, 2009, 2012, 2015, 2018, 2021.
Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022 - ↑ 4.0 4.1 ARUP Consult: Primary Biliary Cholangitis - PBC The Physician's Guide to Laboratory Test Selection & Interpretation https://arupconsult.com/content/primary-biliary-cirrhosis
- ↑ Lindor KD, Gershwin ME, Poupon R et al Primary biliary cirrhosis. Hepatology. 2009 Jul;50(1):291-308. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19554543
- ↑ 6.0 6.1 NEJM Knowledge+ Gastroenterology
- ↑ Primary Biliary Cholangitis (Primary Biliary Cirrhosis) https://www.niddk.nih.gov/health-information/liver-disease/primary-biliary-cholangitis