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Difficulty: MediumGastroenterology and Hepatology

Match each of the following clinical presentations with the most likely diagnosis.

  • A 45-year-old man presents with chronic diarrhea, profound weight loss, migratory polyarthralgia, and subtle cognitive decline. Small bowel biopsy reveals periodic acid-Schiff (PAS)-positive, diastase-resistant inclusions in lamina propria macrophages.Whipple disease
  • A 32-year-old woman presents with chronic diarrhea, weight loss, severe iron deficiency anemia, and an intensely pruritic, papulovesicular rash on her elbows and knees.Celiac disease
  • A 58-year-old man presents with episodic, intense facial flushing, chronic watery diarrhea, and a newly auscultated holosystolic murmur at the left lower sternal border that increases with inspiration.Carcinoid syndrome
  • A 40-year-old woman presents with massive volumes of tea-colored watery diarrhea (up to 5 liters daily), severe muscle cramps, and profound muscle weakness. Laboratory testing reveals severe hypokalemia and achlorhydria.VIPoma

Answer

1 matches with Whipple disease; 2 matches with Celiac disease; 3 matches with Carcinoid syndrome; 4 matches with VIPoma.
Each clinical presentation aligns precisely with a distinct gastroenterologic syndrome characterized by its pathognomonic features: PAS-positive macrophages for Whipple disease, dermatitis herpetiformis for celiac disease, right-sided heart disease with flushing for carcinoid syndrome, and the WDHA triad for VIPoma.

Step-by-Step Solution

1
Analyze the first vignette focusing on the PAS-positive macrophages and systemic manifestations.
Identified as Whipple disease due to the classic combination of malabsorption, arthralgias, neurologic symptoms, and histologic findings.
PAS-positive macrophages are pathognomonic for Tropheryma whipplei infection in the context of these clinical symptoms.
2
Evaluate the second vignette highlighting the dermatologic and hematologic findings.
Identified as Celiac disease.
The combination of malabsorption, iron deficiency anemia, and dermatitis herpetiformis is classically seen in celiac disease due to gluten sensitivity.
3
Examine the third vignette focusing on episodic flushing and cardiac involvement.
Identified as Carcinoid syndrome.
Serotonin secretion from a carcinoid tumor leads to flushing, diarrhea, and right-sided valvular heart lesions (tricuspid regurgitation).
4
Assess the fourth vignette noting the biochemical triad.
Identified as VIPoma.
The presentation of watery diarrhea, severe hypokalemia, and achlorhydria constitutes the WDHA syndrome caused by a VIP-secreting tumor.

Key Concept

Differential diagnosis of chronic diarrhea syndromes based on characteristic systemic, dermatologic, and biochemical manifestations.
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Topics

Gastroenterology and Hepatology

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