Cryptic Cachexia

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Posted by Carla Rothaus

Can Whipple’s disease recur after guideline-based treatment?

Whipple’s disease, due to Tropheryma whipplei infection, commonly affects the duodenum, and the classic presentation includes weight loss, diarrhea, abdominal pain, and arthralgia. Read the NEJM Clinical Problem-Solving Article here.

Clinical Pearls

Q: How common is Whipple’s disease?

A: T. whipplei is a ubiquitous environmental organism. The bacterium has been identified in fecal samples in up to 20% of asymptomatic persons, but clinical manifestations of infection occur in only 1 case per 1 million persons annually. Immunologic variation among different persons may influence susceptibility to active disease. The infection shows a male predominance and typically affects persons of European ancestry.

Q: What are some of the features of Whipple’s disease, other than diarrhea, abdominal pain and arthralgia?

A: Some other features of the disease are as common or more common, including weight loss (in 92% of patients), hypoalbuminemia (in 91%), anemia (in 85%), and lymphadenopathy (in 60%). Many of these features develop over a period of 6 to 8 years before diagnosis. Less common findings include oculomasticatory myorhythmia (in 20% of patients), melanoderma in sun-exposed areas of the body (in 40%), nonnecrotizing granulomas of the lymph nodes (in 9%), and ascites (in 8%). Up to 50% of patients have CNS disease. Back pain due to spondylitis has been observed in rare cases and typically affects the lumbar spine.


Morning Report Questions

Q: How is Whipple’s disease diagnosed and treated?

A: Diagnostic tests for Whipple’s disease include histologic examination for periodic acid–Schiff (PAS)-positive macrophages, a PCR assay for T. whipplei (specifically the 16S ribosomal RNA), and immunohistochemical binding of T. whipplei–specific antibody; a diagnosis of Whipple’s disease requires at least two of these three tests to be positive. The diagnosis of Whipple’s disease is often delayed because of its rarity and many nonspecific symptoms and signs. The disease is fatal if left untreated. Prolonged antibiotic regimens with blood–brain barrier penetration cure most patients. Standard therapy is a 14-day course of ceftriaxone (or a longer course if the CNS is involved), followed by a 1-year course of trimethoprim–sulfamethoxazole.

Q: Can Whipple’s disease recur after guideline-based treatment?

A: All patients treated for Whipple’s disease should be made aware of the risk of recurrence and the potentially fatal outcome if the recurrence is untreated. Although there are no standard surveillance guidelines for Whipple’s disease, experts recommend duodenal biopsy at 6 months and 12 months after treatment, with histologic analysis and PCR testing. Alternative therapy should be considered if the specimen from the surveillance biopsy has PAS-positive macrophages or is positive for T. whipplei on PCR testing. Lifelong relapse rates were previously reported to be as high as 30% but appear to be substantially lower with current standard regimens, although lifelong clinical surveillance remains prudent.

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