(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
Hyperbilirubinemia (Instrinsic Liver Defects)
- A genetic defect in the excretion of bilirubin but with unknown etiology
- Elevated B2
- There is no dark pigmentation of the liver
Rotor Syndrome
- Usually occurs secondary to chronic hepatocellular damage
- Scar tissues replace normal healthy tissue
- Conjugation and excretion functions are affected
- Both B1 and B2 are elevated
- Secondary to viral hepatitis, autoimmune hepatitis, inherited disorders, non-alcoholic steatohepatitis, blocked bile ducts, drugs, toxins, and infections
Cirrhosis
- Includes viral, bacterial, and parasitic infections
- Also includes non-infections (radiation, drugs, chemical, and autoimmune diseases and toxins)
- Refers to the inflammation of the liver
- There is elevated B1 and B2
Hepatitis
In hepatitis, bilirubin is increased in what percent of cases for the following?
- Hepatitis A
- Hepatitis B
- Acute Hepatitis C
A. 20%
B. 30%
C. 70%
- Hep. A - 70%
- Hep. B - 30%
- Acute Hep. C - 20%
- Refers to gallstones, cholelithiasis, and pancreatic tumors
- There is post-hepatic jaundice caused by elevated B2
Biliary Obstruction
Benign or Malignant Tumor?
1. Hepatocellular adenoma and hemangiomas
2. Hepatocellular and bile duct carcinoma
- Benign
- Malignant
- An acute illness characterized by non-inflammatory encephalopathy
- Neurologic functions are affected
- There is fatty degeneration of the liver (hyperbilirubinemia)
- A threefold increase of ammonia in blood due to the insufficient conversion of ammonia to urea
- More common in children with unknown etiology
Note: Doctors suspect the etiology to be the ingestion of aspirin
Reye’s Syndrome
Alcohol and Drug Related Diseases
- Slight elevation in AST, ALT, and GGT
- Fatty infiltrates are noted with vacuoles on liver biopsy
- Affects young to middle-aged people with a history of moderate alcohol consumption
Alcoholic Fatty Liver
Alcohol and Drug Related Diseases
- Presents with fever, ascites, and proximal damage
- Moderately elevated AST, ALT, GGT, ALP
- Total bilirubin is greater than 5mg/dL
Alcoholic Hepatitis
Alcohol and Drug Related Diseases
- Most severe form (all functions are affected)
- More common in males than in females
- Increased liver function tests (AST, ALT, GGT, ALP, and Total Bilirubin)
- There is decreased albumin and prolonged prothrombin time
- A biopsy is the only method for definitive diagnosis
Alcoholic Cirrhosis
This enzyme is the marker for occult and chronic alcoholism
Gamma-Glutamyl Transferase (GGT)
TOF: Intrinsic liver defects are inherited
True
Give the intrinsic liver defects that present with elevated B1
- Physiologic Jaundice of Newborn
- Crigler-Najjar Syndrome
- Gilbert Syndrome
- Lucey-Driscoll Syndrome
Give the intrinsic liver defects that present with elevated B2
- Dubin-Johnson
- Rotor Syndrome
Unknown etiology?
A. Rotor Syndrome
B. Reye’s Syndrome
C. Both
D. Neither
C. Both
B1 is elevated while B2 is decreased
A. Crigler-Najjar Type 1
B. Crigler-Najjar Type 2
C. Lucey-Driscoll Syndrome
D. A and B
E. B and C
E. LD Syndrome and Type 2 only (Type 1 has absent B2)
Elevated B1 only
A. Cirrhosis
B. Hepatitis
C. Both
D. Neither
D. Neither (both B1 and B2 are elevated)