Genetic Liver Diseases Quiz
48 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the most common symptom associated with Hemochromatosis?

  • Liver disease
  • Heart failure
  • Diabetes mellitus
  • Bronzing of the skin (correct)

    • What genetic defect is associated with Hemochromatosis?

  • Ceruloplasmin deficiency
  • Wilson disease
  • HFE gene defect (correct)
  • Alpha-1 antitrypsin deficiency

    • Which of the following is NOT a characteristic of Wilson disease?

  • Presence of Kayser-Fleischer rings
  • Copper deposition in the liver
  • Elevated liver enzymes
  • Elevated ferritin levels (correct)

    • Which of the following is a common screening test for Hemochromatosis?

    <p>Serum iron and transferrin saturation (D)</p> Signup and view all the answers

    What is the typical age of presentation for Wilson disease?

    <p>Young adulthood (D)</p> Signup and view all the answers

    What is the primary function of alpha-1 antitrypsin?

    <p>Protection against harmful enzymes (A)</p> Signup and view all the answers

    Which of the following is a genetic liver disease that can cause elevated aminotransferases?

    <p>Hemochromatosis (A)</p> Signup and view all the answers

    What is the significance of Kayser-Fleischer rings in the context of Wilson disease?

    <p>They indicate copper deposition in the cornea. (C)</p> Signup and view all the answers

    Which of the following is NOT a risk factor that contributes to pretest probability?

    <p>Blood type (B)</p> Signup and view all the answers

    What is the primary reason why disease prevalence plays a crucial role in estimating pretest probability, particularly for seasonal diseases like influenza?

    <p>Seasonal diseases have fluctuating rates of occurrence. (A)</p> Signup and view all the answers

    Clinical prediction rules, such as the Ottawa Ankle Rule and the Wells Criteria, are used to:

    <p>Estimate the likelihood of a particular diagnosis based on multiple risk factors. (C)</p> Signup and view all the answers

    Which of the following scenarios would most likely lead to an increase in unconjugated bilirubin levels?

    <p>Hemolytic anemia due to a genetic defect in red blood cell production. (C)</p> Signup and view all the answers

    What is the primary function of the liver in bilirubin metabolism?

    <p>Conjugation of bilirubin for excretion in bile. (B)</p> Signup and view all the answers

    Gilbert syndrome is a hereditary disorder that affects bilirubin metabolism by:

    <p>Preventing the conjugation of bilirubin. (A)</p> Signup and view all the answers

    What is the difference between direct and indirect bilirubin?

    <p>Direct bilirubin is conjugated, while indirect bilirubin is unconjugated. (D)</p> Signup and view all the answers

    Which of the following conditions is characterized by an elevation in conjugated bilirubin?

    <p>Biliary obstruction (B)</p> Signup and view all the answers

    Which of the following is NOT a poor prognostic sign for hepatitis C progression?

    <p>Younger age of infection (A)</p> Signup and view all the answers

    What percentage of people infected with hepatitis C develop chronic infection?

    <p>80% (B)</p> Signup and view all the answers

    What is the typical time frame for progression from acute hepatitis C infection to cirrhosis?

    <p>20 years (A)</p> Signup and view all the answers

    What is the name of the liver cancer that can develop in patients with chronic hepatitis C and cirrhosis?

    <p>Hepatocellular carcinoma (D)</p> Signup and view all the answers

    What are the risks of developing chronic hepatitis B if infected as an infant?

    <p>90% (D)</p> Signup and view all the answers

    How long after hepatitis C infection does the RNA become detectable?

    <p>1-2 weeks (B)</p> Signup and view all the answers

    In which of the following situations can a negative antibody test for hepatitis C NOT rule out infection?

    <p>Immunosuppressed patients (C)</p> Signup and view all the answers

    What is the typical time frame for the development of cirrhosis in patients with chronic hepatitis C?

    <p>10-20 years (D)</p> Signup and view all the answers

    What is a common cause of elevated AST and ALT levels, specifically in the context of an AST/ALT ratio greater than 2?

    <p>Alcoholic liver disease (C)</p> Signup and view all the answers

    Which liver chemistry test(s) are primarily used to evaluate hepatocellular injury?

    <p>AST and ALT (B)</p> Signup and view all the answers

    Which enzyme is primarily found in the liver and is considered a more specific indicator of hepatocellular injury compared to AST?

    <p>ALT (D)</p> Signup and view all the answers

    Which of the following tests would be considered a sensitive but not specific screening test for autoimmune hepatitis?

    <p>Elevated serum globulins (A)</p> Signup and view all the answers

    What is the primary distinguishing feature between Type I and Type II autoimmune hepatitis?

    <p>The presence of anti-LKM-1 antibody (B)</p> Signup and view all the answers

    Which of the following statements regarding autoimmune hepatitis is TRUE?

    <p>It can initially present with mild elevations in aminotransferases that may increase over time. (D)</p> Signup and view all the answers

    Which of the following is a possible explanation for an AST/ALT ratio greater than 2?

    <p>Alcoholic liver disease (C)</p> Signup and view all the answers

    Which of the following statements best describes the clinical significance of elevated alkaline phosphatase levels?

    <p>It is primarily associated with cholestatic liver disease. (C)</p> Signup and view all the answers

    In which of the following scenarios might a liver biopsy be considered?

    <p>When initial tests for liver disease are inconclusive (D)</p> Signup and view all the answers

    Which of the following is NOT a typical symptom associated with alcohol-associated hepatitis?

    <p>Jaundice (B)</p> Signup and view all the answers

    According to the provided content, which of the following statements about Autoimmune Hepatitis is TRUE?

    <p>It can have an indolent course and might be overlooked in patients with asymptomatic liver enzyme elevations. (C)</p> Signup and view all the answers

    What is the significance of Hepatitis C antibodies?

    <p>They indicate past exposure to the Hepatitis C virus, but not necessarily chronic infection. (B)</p> Signup and view all the answers

    Which of the following statements accurately describes the relationship between alcohol consumption and liver injury?

    <p>Females are more susceptible to alcohol-related liver damage and require less alcohol to develop it. (A)</p> Signup and view all the answers

    Which screening test is used to assess a patient's alcohol consumption habits?

    <p>AUDIT-C (D)</p> Signup and view all the answers

    How can the activity of the hepatitis B virus be assessed?

    <p>By measuring the Hepatitis B e-antigen levels (C)</p> Signup and view all the answers

    Which of the following statements correctly describes Hepatitis C?

    <p>It is an RNA virus. (B)</p> Signup and view all the answers

    Which of the following tests is most helpful in evaluating for a liver mass?

    <p>Computed tomography (CT) (D)</p> Signup and view all the answers

    When is a liver biopsy typically considered in the evaluation of liver dysfunction?

    <p>When diagnosis is uncertain or specific conditions are suspected (D)</p> Signup and view all the answers

    Which of the following tests is most useful in evaluating the biliary tree when elevated alkaline phosphatase and bilirubin are present?

    <p>Ultrasound (B)</p> Signup and view all the answers

    Which of the following statements regarding the role of liver biopsy in hepatitis C is correct?

    <p>Liver biopsy is no longer recommended in hepatitis C due to the availability of effective treatment options. (C)</p> Signup and view all the answers

    Why might an erythrocyte sedimentation rate (ESR) be unhelpful in determining the cause of elevated aminotransferases?

    <p>ESR is a nonspecific indicator of inflammation and doesn't pinpoint the cause of liver enzyme elevation. (C)</p> Signup and view all the answers

    Which of the following describes the most common reason for using antimitochondrial antibody testing?

    <p>To diagnose primary biliary cirrhosis. (C)</p> Signup and view all the answers

    When might an MRCP be considered in the evaluation of elevated liver enzymes?

    <p>When the initial ultrasound is normal. (C)</p> Signup and view all the answers

    Which of the following statements regarding the role of liver biopsy in liver dysfunction is correct?

    <p>Liver biopsy may be used to confirm the diagnosis of specific liver diseases when other tests are inconclusive. (A)</p> Signup and view all the answers

    Study Notes

    Internal Medicine: 45-Year-Old Male with Abnormal Liver Chemistries

    • Learning Objectives: Understand the pathophysiology of hyperbilirubinemia types, common liver diseases (inherited and acquired), viral hepatitis risk factors, AUDIT-C for alcohol use, laboratory testing for liver disease, liver biopsy indications, and diagnostic error reduction tools.

    Historical Features for Elevated Liver Enzymes

    • Initial Evaluation: Comprehensive history and physical examination to identify signs/symptoms of liver disease followed by further liver function tests.
    • Important History Elements:
      • Jaundice and pruritus (cholestasis)
      • Weight loss and fever (significant liver disease)
      • Rectal bleeding (portal hypertension)
      • Dark urine (bilirubin excretion)
      • Light-colored stools (biliary obstruction)
      • Abdominal pain, diarrhea, increased abdominal girth, edema, nausea, vomiting (with or without hematemesis), altered mental status.

    Risk Factors for Liver Disease

    • Alcohol Use Disorder: Greater than or equal to 3 drinks per day (men) or greater than or equal to 2 drinks per day (women) is considered harmful drinking.
    • Family History: Significant familial history of Wilson's disease, hemochromatosis, alpha-1-antitrypsin deficiency, or Gilbert syndrome.
    • Blood Transfusions/Solid Organ Transplants (pre-1992): Potential hepatitis C risk
    • Clotting Factor Transfusions (pre-1987): Potential hepatitis C risk
    • Occupational Exposure: Exposure to HCV-positive blood (needle sticks).
    • Food Consumption: Eating uncooked HAV-contaminated food or water (risk for hepatitis A)

    Other Relevant Information

    • Diabetes Mellitus: Increases risk of metabolic dysfunction-associated steatohepatitis (MASH)
    • HIV: Increased risk of hepatitis C co-infection, particularly in men who have sex with men (MSM).
    • Injection Drug Use: High risk factor for hepatitis C transmission
    • Vaccination History: Important, especially hepatitis A and B

    Bilirubin Production and Metabolism

    • Bilirubin production: Approximately 4 mg/kg per day from senescent red blood cells
    • Normal process: Conjugation to facilitate bile excretion.
    • Measurement: Divide into direct (conjugated) and indirect (unconjugated) fractions to assess mechanisms of elevated bilirubin.

    Hyperbilirubinemia Mechanisms

    • Increased Production: Hemolysis increases unconjugated bilirubin (e.g., hemolytic anemias, spherocytosis, sickle cell disease, G6PD deficiency)
    • Intrahepatic Causes (unconjugated): Gilbert syndrome (hereditary decrease in glucuronosyltransferase) - transient elevations with stress, illness, etc..
    • Intrahepatic Causes (conjugated): Inflammation disrupting bilirubin transport, or hepatocyte dysfunction (acute - toxin/ischemia/drugs/viral; chronic - viral, alcohol, Wilson's, hemochromatosis, MASH, alpha-1-antitrypsin deficiency, autoimmune). Rare hereditary conditions like Dubin-Johnson, and Rotor syndromes cause reduced excretion.
    • Posthepatic Causes: Extrahepatic cholestasis due to obstruction (gallstones, tumors, primary sclerosing cholangitis).

    Additional Liver Conditions

    • Autoimmune Hepatitis: More common in women, occurs with other autoimmune diseases.
    • Alcohol-Associated Liver Disease: Spectrum from fatty liver to hepatitis to cirrhosis; increased risk with 6-8 drinks/day-risk increases with chronic use.
    • Metabolic Dysfunction-Associated Steatohepatitis (MASH): Similar to alcoholic liver damage but without alcohol use - high risk factors: obesity, male sex, diabetes mellitus, and hyperlipidemia.
    • Genetic Liver Diseases: Alpha-1 antitrypsin deficiency and hemochromatosis (genetic, elevated aminotransferases; hemochromatosis - iron overload, symptoms, diagnosis by genetic testing and iron studies).
    • Wilson's Disease: Genetic disease, impaired copper metabolism, symptoms in young adults.

    Diagnostic Considerations

    • Pretest probability: crucial element in guiding the diagnostic process (patient demographics, lifestyle, and prior diagnoses)
    • Clinical prediction rules: (e.g., Ottawa Ankle Rule, Wells Criteria)
    • Multiple potential causes: Evaluate likelihood of each potential diagnosis when multiple causes are possible.
    • Hepatitis Serologies: Presence of antibodies confirms past exposure to the virus, but additional testing (RNA) is needed to confirm chronic active infection; testing depends on reasons for suspicion.
    • Diagnostic tests: Laboratory values including the role of liver enzymes and specific liver chemistries are useful and crucial to assess the health of the liver.

    Management Considerations

    • Hepatitis C Treatment: Newer direct-acting antiviral (DAA) medications are effective. Genotype-specific treatments are available.
    • Secondary Prevention: Advise on abstaining from alcohol and illicit drugs, managing medications (acetaminophen) and vaccinations (hepatitis A and B).
    • Liver Chemistries: Include bilirubin, aspartate transaminase (AST), alanine transaminase (ALT), gamma-glutamyl-transferase (GGT) and alkaline phosphatase to assess liver disease.

    Other Important Clinical Considerations

    • Alcohol Use Disorders Identification Test (AUDIT-C): screening for alcohol consumption.
    • Specific patient questions regarding alcohol use and harmful drinking need specific and appropriate medical attention based on the factors.
    • Need for thorough patient history and examination (lifestyle, prescriptions/over-the-counter medications)

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Related Documents

    Internal Medicine 11: 45-Year-Old Male with Abnormal Liver Chemistries PDF

    Description

    Test your knowledge on genetic liver diseases, including Hemochromatosis and Wilson disease. This quiz covers key symptoms, genetic defects, and clinical prediction rules associated with these conditions. Perfect for students and healthcare professionals aiming to enhance their understanding of liver pathologies.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser