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Difficulty: MediumGastroenterology and Hepatology

Match each brief clinical presentation to the most appropriate initial or highly specific diagnostic serologic marker.

  • A 45-year-old woman with generalized pruritus, severe fatigue, and significantly elevated alkaline phosphatase without biliary dilation on ultrasound.Anti-mitochondrial antibody (AMA)
  • A 32-year-old man with a history of ulcerative colitis who presents with progressive fatigue and is found to have multifocal stricturing of the intrahepatic and extrahepatic bile ducts.Perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA)
  • A 28-year-old woman with fatigue, amenorrhea, elevated serum transaminases (AST and ALT > 500 U/L), and hypergammaglobulinemia.Anti-smooth muscle antibody (ASMA)
  • A 35-year-old man with chronic diarrhea, weight loss, iron deficiency anemia, and an intensely pruritic vesicular rash on his extensor surfaces.Anti-tissue transglutaminase IgA antibody (Anti-tTG IgA)

Answer

Match the 45-year-old woman (PBC) with AMA, the 32-year-old man with ulcerative colitis (PSC) with p-ANCA, the 28-year-old woman with marked transaminitis (Autoimmune Hepatitis) with ASMA, and the 35-year-old man with chronic diarrhea and vesicular rash (Celiac Disease) with Anti-tTG IgA.
Each clinical presentation is a classic description of a specific autoimmune gastrointestinal or hepatobiliary disorder, each of which has a highly characteristic autoantibody used for diagnosis.

Step-by-Step Solution

1
Analyze the first presentation.
Identified as Primary Biliary Cholangitis (PBC) due to the middle-aged female demographic, pruritus, fatigue, and cholestatic liver injury.
PBC is an autoimmune destruction of intrahepatic bile ducts, classically marked by Anti-mitochondrial antibodies (AMA).
2
Analyze the second presentation.
Identified as Primary Sclerosing Cholangitis (PSC) based on the association with ulcerative colitis and stricturing of biliary ducts.
PSC is heavily linked to inflammatory bowel disease and often shows a positive p-ANCA, unlike PBC.
3
Analyze the third presentation.
Identified as Autoimmune Hepatitis (AIH) type 1 given the severe hepatocellular injury (high AST/ALT) and hypergammaglobulinemia in a young woman.
AIH type 1 is characterized by the presence of Anti-smooth muscle antibodies (ASMA) and/or Antinuclear antibodies (ANA).
4
Analyze the fourth presentation.
Identified as Celiac disease with Dermatitis Herpetiformis based on malabsorption and the classic extensor surface vesicular rash.
The highly specific serologic test for Celiac disease is the Anti-tissue transglutaminase IgA antibody (Anti-tTG IgA).

Key Concept

Diagnostic serologies for autoimmune gastrointestinal and hepatobiliary diseases
Estimated Time:1m 30s
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Topics

Gastroenterology and Hepatology

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