2025 – PAGE 228 – GASTROENTEROLOGY
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC)
There are three types of Progressive Familial Intrahepatic Cholestasis (PFIC). Various types of defects can lead to cholestasis with hyperbilirubinemia and eventual cirrhosis. Average age of onset is 3 months, though may be as late as adolescence. The classic triad of intermittent abdominal pain, jaundice and a right upper quadrant abdominal mass is rare. PFIC is more common in Asia. In PFIC type I, bilirubin is formed but it is formed improperly. Look for a direct hyperbilirubinemia and severe pruritus. In PFIC I and II, since the biliary tree/piping is normal, the GGT will be normal. In PFIC III, there is a mutation that causes damage to biliary duct epithelium. This results in very high GGT levels.
PEARLS: The initial disorder was described in the Amish community, so keep an eye out for such an association on the exam.
MNEMONIC: “pfic thrEE has the HIGH ggTEE!”
ALAGILLE SYNDROME (AKA ARTERIOHEPATIC DYSPLASIA)
Alagille Syndrome (AKA arteriohepatic dysplasia) is a genetic disorder in which jaundice is noted in the newborn period. Look for a child with LIVER and HEART disease. Here are some associations: paucity of bile ducts (AKA intrahepatic biliary atresia or hypoplastic biliary ducts), pulmonary stenosis, a triangular face (underdeveloped mandible → small, pointed chin), Tetralogy of Fallot, hypercholesterolemia with xanthomas, eye abnormalities, and acholic stools.
IMAGE: www.pbrlinks.com/ALAGILLE1
MNEMONIC: (image #1) The GREEN ALLIGATOR has a TRIANGULAR FACE that is green because it is filled with BILE. His head is shaped like a HEART to remind of the PULMONARY STENOSIS. He also has funny-shaped EYES and XANTHOMATOUS lumps all over his face. Also, notice what he’s eating. It’s a LIVER!
MNEMONIC: (image #2) This cute little guy is named Alagille. He has a TRIANGULAR head and a funny-shaped JAW that is in the shape of a HEART to remind you of PULMONARY STENOSIS.
MNEMONIC: (image #3) That’s Al the Green Alligator.
IDIOPATHIC NEONATAL HEPATITIS
Idiopathic neonatal hepatitis is a diagnosis of exclusion! You must do a workup first. If nothing is found except for enlarged hepatocytes on biopsy, it is likely this. This will likely resolve by 8 months of age.
VIRAL HEPATITIS
PEARL: When evaluating a viral hepatitis serologies, always note whether the exam gives you Ag or Ab. Knowing how to interpret the presence of antigens and antibodies is key for this section.
MNEMONIC: There are many types of viral hepatitis: A, B, C, D, and E. To remember which ones are transmitted fecal-orally, imagine that A is the beginning of the GI tract, and E is the end. So Hep A and Hep E are transmitted fecal-orally, while the rest (B, C, and D) are transmitted through B-C-D (Blood, Cex/Sex, and Drugs).