Hepatobiliary Quiz—10 (2014)

• 1.
  Regarding pathogenesis of genetically determined cholestatic disorders of the liver the following are TRUE:

  • 1.
    Inheritance of progressive familial intrahepatic cholestasis (PFIC) is autosomal recessive
  • 2.
    PFIC 1 is due to mutations in ABCB 11 gene encoding for bile salt excretory protein (BSEP)
  • 3.
    BSEP defect results in accumulation of bile salts in the hepatocyte with consequent hepatocellular damage
  • 4.
    Benign recurrent intrahepatic cholestasis (BRIC) can occur with mutations on the same genes that cause PFIC
  • 5.
    Intrahepatic cholestasis of pregnancy and drug induced cholestasis are not related to these genetic mutations
• 2.
  Regarding the clinical features and diagnosis of PFIC the following are TRUE EXCEPT:

  • 1.
    PFIC 2 is the most severe form with highest propensity to develop liver failure, portal hypertension and hepatocellular carcinoma
  • 2.
    Majority of patients with PFIC 3 will present within first 3 months of life
  • 3.
    Extrahepatic manifestations are most common in PFIC 3
  • 4.
    PFIC 1 and 2 have normal gamma glutamyl transpeptidase levels
  • 5.
    Serum alpha-fetoprotein levels are raised in PFIC 2
• 3.
  Regarding treatment of PFIC the following are TRUE:

  • 1.
    Ursodeoxycholic acid (UDCA) is useful in PFIC
  • 2.
    Cholestyramine and rifampicin are the drugs of choice in PFIC
  • 3.
    Biliary diversion procedures are useful to delay histological progression in patients who do not respond to medical therapy
  • 4.
    Ileal bypass is the biliary diversion surgical procedure of choice in PFIC
  • 5.
    PFIC can recur after liver transplantation
• 4.
  Regarding the pathogenesis of Gaucher disease the following are TRUE:

  • 1.
    It is an autosomal dominant disease
  • 2.
    It results from deficiency of the lysosomal enzyme glucocerebrosidase
  • 3.
    Accumulation of glucosylsphingosine correlates with severity of neuronopathic disease
  • 4.
    N370S substitution is associated with neurological disease
  • 5.
    There is an absolute genotype–phenotype correlation in Gaucher disease
• 5.
  Regarding the clinical features and diagnosis of Gaucher disease the following are TRUE EXCEPT:

  • 1.
    Type 1 Gaucher disease does not have neurological involvement
  • 2.
    Type 3 is the acute neuronopathic form of Gaucher disease
  • 3.
    Spleen is enlarged disproportionately more than the liver
  • 4.
    Cirrhosis is a common presenting feature
  • 5.
    Histopathological examination of bone marrow or spleen is the gold standard for diagnosis
• 6.
  Regarding management of Gaucher disease the following are TRUE:

  • 1.
    Bone marrow transplantation is the treatment of choice
  • 2.
    Enzyme replacement therapy (ERT) is most useful in type 2 Gaucher disease
  • 3.
    ERT does not treat lung parenchymal disease and pulmonary hypertension
  • 4.
    Cirrhosis or advanced fibrosis is not reversible with ERT
  • 5.
    Drugs targeted at inhibition of glucosylceramide synthesis are useful for induction therapy
• 7.
  Regarding pathogenesis and presentation of portal cavernoma cholangiopathy (PCC) the following are TRUE EXCEPT:

  • 1.
    Biliary system is supplied solely by the hepatic arterial system
  • 2.
    PCC may reverse only partially after shunt surgery
  • 3.
    Only minority of patients with PCC are symptomatic
  • 4.
    Majority of patients with PCC become symptomatic at a young age, soon after the diagnosis of portal cavernoma
  • 5.
    PCC term is applicable to biliary changes associated with portal hypertension of any etiology
• 8.
  Regarding management of PCC the following are TRUE:

  • 1.
    Magnetic resonance cholangiography (MRC) is the diagnostic modality of choice
  • 2.
    Therapeutic endoscopic retrograde cholangiography (ERC) is required in all cases
  • 3.
    Majority of patients with symptomatic PCC cannot undergo shunt surgery due to absence of suitable veins
  • 4.
    Majority of patients of symptomatic PCC become asymptomatic after successful portosystemic shunt procedure
  • 5.
    Liver transplantation is not feasible in PCC
• 9.
  Regarding hepatic encephalopathy (HE) the following are TRUE EXCEPT:

  • 1.
    Normal neurological examination and normal psychometric testing is characteristic of minimal HE
  • 2.
    The term covert HE includes minimal HE and grade I HE
  • 3.
    Covert HE does not need to be treated
  • 4.
    Magnetic resonance spectroscopy findings of HE are characterized by increased intracellular glutamate/glutamine signal and a decrease in myoinositol, taurine, and choline signals
  • 5.
    Lactulose acts solely by its laxative effect in HE
• 10.
  Regarding non-alcoholic fatty liver disease (NAFLD) the following are TRUE:

  • 1.
    Asians origin individuals are at higher risk for developing NAFLD irrespective of their current place of residence
  • 2.
    The association of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene polymorphisms with NAFLD has been demonstrated for Caucasians only
  • 3.
    Only a minority of patients will be able to achieve desired weight loss despite intensive lifestyle modification programs.
  • 4.
    Weight loss medications are not superior to lifestyle modification programs in achieving desired weight loss
  • 5.
    Transient elastography is unreliable in predicting fibrosis in NAFLD

(Answers on page 184)