CC May 2015 Primary biliary cirrhosis

echoecho's version from 2015-05-07 02:21


Question Answer
Define PBC (primary biliary cirrhosis)?uncommon, progressive autoimmune disease of the liver with incidence rates that vary geographically
PBC has higher incidence rates where in the world?Northern Europe and North America
The prevalence of PBC in the US is ____ to ____ cases per million persons?150-400
Age group?rarely prior to age 30 or in children
Spectrum of disease?from asymptomatic patient to liver failure
What medication can treat PBC?UDCA (ursodeoxycholic acid
What does UDCA do?1. reduces the rate of histologic progression from early disease to end-stage liver disease 2. improves hepatic biochemical markers
Etiology?unclear but interplay of genetic predisposition (HLA, IL12A, and IL12RB2 variants) and environmental triggers (viruses, bacteria and chemicals) provoke an immune response that becomes self-perpetuating
What is present in PBC patient cells that is highly disease-specific and is found in 90-95% of patients with PBC?AMA (autoantibody against the mitochondria)
What % of patients with biopsy-proven PCB are AMA-negative?< 5%
What do the AMAs target?target autoantigens that particpate in oxidative phosphorylation
What do the T-lymphocytes do?they destroy small bile ducts
Pts with PBC have higher incidence of other autoimmune diseases (like what, name 7 diseases)?1. hypothyroidism 2. celiac disease 3. sarcoidosis 4. hemolytic anemia 5. autoimmune thrombocytopenia 6. Sjogren's syndrome 7. scleroderma
Some PBC patients may develop an overlap syndrome with what disease?autoimmune hepatitis
Question Answer
Currently, most pats with newly diagnosed PCB present at an early stage with no or few s/s. Frequently dx is considered when incidental elevated liver enzymes what liver enzyme?alkaline phosphatase
Describe the alkaline phosphatase? it is usually markedly elevated and of hepatic origin.
Transaminases?may be normal or mildly elevated
In symptomatic pts, what is the most common symptom (78% of patients)?fatigue
What is the etiology of the fatigue? Does it correlated with severity, histologic stage or duration of the condition?1. etiology unknown 2. does not correlate
What is the second most common symptom?pruritus (20-70% of patients).
What is the cause of the pruritius?likely multifactorial and may involve an enhanced opioidergic neurotransmission.
List other presenting symptoms?1. SICCA syndrome (dry eyes, mouth, vagina) 2. CREST / Raynaud's syndrome (calcinosis, Raynaud's esophageal dysfunction, sclerodactyly, telangiectasias) 3. skin hyperpigmentation 4. nonspecific RUQ abdominal pain.
What is found in 1/3 of pts who may have depressed bone formation , low or normal bone resportion and vit D deficiency from malabsorption?hepatic osteodystrophy (osteoporosis and osteomalacia)
Comment on the lipids?hyperlipidemia (disproportionally elevated HDL fraction) is very common, but pts do not have increased risk of death from atherosclerosis
What are the s/s in late PBC?1. vitamin deficiency (A,D, E, K) 2. hepatomegaly 3. features of advanced liver disease (portal HTN, jaundice, ascites, esophageal varies / bleeding and hepatic encephalopathy)
Pts with advanced PCB have increased risk of what cancer?hepatocellular carcinoma
Question Answer
How is dx made?1. based on medical hx 2. based on physical findings 3. elevated liver enzymes (especially alkaline phosphatase) 4. increased level of immunoglobulin (mainly immunoglobulin M {IgM} 5. presence of AMA (autoantibody against mitochondria) 6. Anti-smooth muscle (ASM) antibody 7. antinuclear antibody (ANA) can be present (in up to 50% of patients)
Is liver biopsy mandatory for dx?not mandatory for dx but helpful for staging, prognostication and r/o other diseases
R/o other common causes of cholestasis, name some?medications , stones, malignancy
*** The current guideline states that the dx of PBC can be made if 2 of the following criteria are met. List the criteria?1. evidence of cholestasis (elevated alkaline phosphatase +/- elevated bilirubin 2. presence of AMA 3. histological evidence of nonsuppurative, destructive cholangitis and destruction of interlobular bile ducts
What imaging study should be performed for evaluation of cholestasis (differentiating intrahepatic from extrahepatic cholestasis)?US of the liver and biliary system
What imaging studies are occasionally needed to r/o primary sclerosis cholangitis?MRI and endoscopic imaging of the biliary system
What imaging study is an emerging tool to evaluate the extend of hepatic fibrosis?transient elastography (US technique)
List the 4 histologic stages of primary biliary cirrhosis?1. stage 1 (inflammation in portal triads only) 2. stage 2 (bile ducts reduced, inflammation outside portal triads) 3. stage 3 (fibrous septa connecting adjacent portal triads 4. stage 4 (cirrhosis, regenerative nodules, ESLD (end-stage liver disease)