A 44-year-old white male presents with a long history of joint pains in several joints. He has seen a physician before but no diagnosis was made. He has been taking ibuprofen with partial relief. He has now developed fever, diarrhea and weight loss. He denies any genitourinary or eye symptoms. He does not use tobacco, alcohol or drugs. He is a farmer. On examination, he has generalized lymphadenopathy and non-deforming arthritis. Small intestinal biopsy reveals periodic acid-Schiff (PAS)-positive macrophages. Which of the following is the most likely diagnosis?

Question

A 44-year-old white male presents with a long history of joint pains in several joints.  He has seen a physician before but no diagnosis was made.  He has been taking ibuprofen with partial relief.  He has now developed fever, diarrhea and weight loss.  He denies any genitourinary or eye symptoms.  He does not use tobacco, alcohol or drugs.  He is a farmer.  On examination, he has generalized lymphadenopathy and non-deforming arthritis.  Small intestinal biopsy reveals periodic acid-Schiff (PAS)-positive macrophages.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

The patient described is most likely suffering from Whipple disease. Whipple's disease is a multisystem disease that is characterized by a multitude of possible manifestations. Most commonly, patients with Whipple disease present with a history of chronic malabsorptive diarrhea (steatorrhea, flatulence, abdominal distention), protein-losing enteropathy, weight loss, migratory non-deforming arthritis, lymphadenopathy and a low-grade fever. The disease may also cause damage to the eye, CNS and myocardium. Whipple's disease is caused by infection with the gram-positive bacillus Tropheryma whippelii, but a mechanism whereby patients contract this infection has yet to be determined. The diagnosis is made with a small intestinal biopsy and PCR in patients with clinical symptoms consistent with the disease. Small intestinal biopsy shows PAS-positive macrophages in the lamina propria containing non-acid-fast gram-positive bacilli. Tropheryma whippelii (Choice A) Reactive arthritis classically occurs following an infection. The classic example is - HLA-B27-associated reactive arthropathy characterized by conjunctivitis, urethritis and arthritis. It typically follows infections by Chlamydia, Shigella, Salmonella, Yersinia, Campylobacter and C. difficile. Chlamydia Shigella, Salmonella, Yersinia, Campylobacter C. difficile (Choice B) In sarcoidosis biopsy shows non-caseating granulomas. (Choice C) On histopathology, ulcerative colitis shows acute and chronic inflammation of the mucosa leading to crypt abscess formation. Crohn disease shows full-thickness inflammation with granuloma and lymphoid aggregate formation and skip regions. (Choice E) Celiac disease (celiac sprue, gluten-sensitive enteropathy) is an autoimmune disease characterized by malabsorptive diarrhea. Serologic testing shows anti-endomysial and anti-transglutaminase antibodies, and histopathology shows effacement of small intestinal villi. (Choice F) Intestinal lymphoma usually presents with abdominal pain, weight loss, nausea and vomiting, distention, and occult blood in the stool. Malabsorption is not a typical feature, and histopathology would show a diffuse infiltrate by atypical lymphocytes. (Choice G) HIV Infection may be associated with a similar syndrome of fever, malabsorptive diarrhea and weight loss when Mycobacterium avium-intracellulare infects the small intestinal wall. This would also cause PAS-positive macrophages on small intestinal biopsy, but these bacilli would also be acid-fast. Mycobacterium avium intracellulare Educational objective: Whipple disease is a multisystem disorder with a varied presentation caused by infection with the gram-positive bacillus Tropheryma whippelii. Chronic malabsorptive diarrhea, weight loss, migratory non-deforming arthritis, lymphadenopathy and a low-grade fever are the most common presenting symptoms. Tropheryma whippelii

A 44-Year-Old White Male Presents with a Long History of Joint