(F) L3: Liver Function Tests (Liver Diseases) Flashcards
- Refers to elevated bilirubin in the blood
- A yellowish discoloration of skin and sclera
Jaundice/Hyperbilirubinemia
Note: Jaundice is NOT a disease, just a manifestation
Hyperbilirubinemia
Jaundice will only start manifesting once the level of bilirubin in the blood reaches what?
3-5mg/dL or GREATER
Hyperbilirubinemia
TOF: Jaundice is always associated with hyperbilirubinemia
False (some people can be diagnosed with hyperbilirubinemia but manifest no signs of jaundice yet)
Hyperbilirubinemia
Refers to a serum/plasma specimen with increased bilirubin/yellowish discoloration
Icterus/Icteric
Note: Jaundice is for describing the person, icteric is for the sample
Hyperbilirubinemia
Refers to hyperbilirubinemia in newborns/infants wherein the BBB is not yet intact leading to bilirubin deposition in the brain
Kernicterus
Hyperbilirubinemia
Kernicterus level according to Henry’s?
> 20mg/dL (15-20mg/dL is borderline)
Classifications of Hyperbilirubinemia
- Happens when there is hemolysis/hemolytic disease, malaria, and autoimmune disease
- There is elevated B1
- There is no problem with the liver
Pre-hepatic
Classifications of Hyperbilirubinemia
- There is elevated bilirubin due to liver disease
- May be secondary to intrinsic defects due to disorders of bilirubin metabolism and transport defects
- Diseases resulting to hepatocellular injury/destruction (e.g. hepatitis)
Hepatic
Classifications of Hyperbilirubinemia
- There is a problem with bilirubin excretion (biliary obstruction)
- May be due to gallstones (cholelithiasis) and tumors
- There is elevated B2
Post-hepatic
Hyperbilirubinemia (Instrinsic Liver Defects)
- Due to immaturity of the liver (deficient UDPGT)
- Elevated B1 levels are observed
- Patient will undergo phototherapy until the liver matures (bilirubin is light sensitive)
Physiologic Jaundice of the Newborn
Hyperbilirubinemia (Instrinsic Liver Defects)
- A genetic disorder wherein the UGT1A1 gene (for UDPGT) is mutated
- B1 is elevated while B2 is decreased
Crigler-Najjar Syndrome
Hyperbilirubinemia (Instrinsic Liver Defects)
Types of Crigler-Najjar Syndrome (answer all):
1. A complete deficiency of UDPGT (elevated B1 and absent B2)
2. A partial deficiency of UDPGT (elevated B1 and decreased B2)
- Type 1
- Type 2
Hyperbilirubinemia (Instrinsic Liver Defects)
- An impaired cellular uptake of bilirubin due to a defect in bilirubin transport
- Can be secondary to a benign deficiency of UDPGT
- Elevated B1
Gilbert Syndrome
Hyperbilirubinemia (Instrinsic Liver Defects)
- There is a circulating inhibitor of bilirubin conjugation
- Elevated B1 and decreased B2
- A familial form of unconjugated hyperbilirubinemia (inherited disorder)
Lucey-Driscoll Syndrome
Hyperbilirubinemia (Instrinsic Liver Defects)
- A genetic disorder wherein there is a deficiency of MDR2/cMOAT (Canalicular Multi-Specific Organic Anion Transporter) which is important for the excretion of bilirubin
- Elevated B2 (no problem with the conjugation, only transport)
- Risk for developing delta-bilirubin
- There is a deposition of lipofucsin in the liver (dark pigmentation)
Dubin-Johnson