A 50-year-old man comes to the office due to diarrhea, abdominal pain and weight loss. He has bulky, foul-smelling stools, abdominal distension and flatulence. He also has arthralgias and a chronic cough. His temperature is 37.8 C (100° F), blood pressure is 120/80 mm Hg, pulse is 80/min, and respirations are 18/min. Physical examination shows generalized lymphadenopathy, skin hyperpigmentation and a diastolic murmur in the aortic area. Small bowel biopsy shows villous atrophy with numerous PAS-positive materials in the lamina propria. Which of the following is the most likely diagnosis?

Question

A 50-year-old man comes to the office due to diarrhea, abdominal pain and weight loss.  He has bulky, foul-smelling stools, abdominal distension and flatulence.  He also has arthralgias and a chronic cough.  His temperature is 37.8 C (100° F), blood pressure is 120/80 mm Hg, pulse is 80/min, and respirations are 18/min.  Physical examination shows generalized lymphadenopathy, skin hyperpigmentation and a diastolic murmur in the aortic area.  Small bowel biopsy shows villous atrophy with numerous PAS-positive materials in the lamina propria.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

Whipple disease is a rare multi-systemic illness. It is an infectious disease caused by the bacillus Tropheryma whippelii. It is most commonly seen in white men in the fourth-to-sixth decades of life, and often presents with weight loss. Gastrointestinal symptoms include abdominal pain, diarrhea, and malabsorption with distension, flatulence, and steatorrhea. Extraintestinal manifestations include migratory polyarthropathy, chronic cough, and myocardial or valvular involvement leading to congestive failure or valvular regurgitation. Later stages of the disease may be characterized by dementia and other central nervous system findings, such as supranuclear ophthalmoplegia and myoclonus. Intermittent low-grade fever, pigmentation, and lymphadenopathy may also be occasionally seen. PAS-positive material in the lamina propria of the small intestine is a classical biopsy finding. (Choice A) Celiac disease, although associated with malabsorption, is not associated with pigmentation and lymphadenopathy. (Choice B) Tropical sprue is a chronic diarrheal disease, possibly of infectious origin, that should be considered in patients who have lived for more than a month in a tropical area. (Choice C) Crohn disease can be associated with malabsorption, abdominal pain, fever and arthralgias; however, this diagnosis cannot explain the patient's skin hyperpigmentation, chronic cough and biopsy findings. (Choice E) Cystic fibrosis can be associated with chronic cough and malabsorption. It is not associated with arthralgias or skin hyperpigmentation. Educational objective: Whipple disease is a multi-systemic illness characterized by arthralgias, weight loss, fever, diarrhea, and abdominal pain. PAS-positive material in the lamina propria of the small intestine is a classical biopsy finding of Whipple's disease.

A 50-Year-Old Man Comes to the Office Due to Diarrhea