Whipple Disease

 

Whipple disease (WD) is a rare systemic infectious disease, caused by the bacterium Tropheryma whipplei, that can potentially affect all organ systems, but has a predilection for both the GI tract and CNS.

-Invasion of the intestinal mucosa and lamina propria with a gram-positive bacillus, Tropheryma whippelii produces foamy macrophages with glycoprotein leading to lymphatic obstruction and malabsorption.

-It most commonly affects white men in the fourth to sixth decades.

Symptoms and Signs:

The clinical features may include virtually any of the body’s organ systems.However, in the classic presentation, gastrointestinal symptoms are usually striking.

Gastrointestinal: Weight loss, diarrhea, abdominal pain.

Cardiac: heart failure or valvular regurgitation.

Pulmonary: cough, pleural effusion

Neurological: dementia, lethargy, coma, seizures, myoclonus, or hypothalamic signs. Cranial nerve findings include ophthalmoplegia or nystagmus. A pathognomonic sign of CNS Whipple disease is oculomasticatory myorhythmia, where involuntary blinking occurs when the patient is talking or eating.

Rheumatological: migratory polyarthralgia with enlarged or warm joints

Ocular: Uveitis

Diagnosis:The diagnosis of Whipple disease is established in 90% of cases by endoscopic biopsy of the duodenum with histologic evaluation, which demonstrates infiltration of the lamina propria with numerous foamy PAS-positive, diastase-resistant macrophages that contain gram-positive rod-like bacilli (which are not acid-fast) and dilation of the lacteals. In suspected CNS involvement, PCR and cytology of cerebro- spinal fluid sediment are of major diagnostic value.

Treatment: Empiric treatment with antibiotics results in prompt improvement in most patients. A course of induction by penicillin or ceftriaxone for 2 weeks followed by trimethoprim-sulfamethoxazole or doxycycline continued for 1 year are the currently recommended regimens. Complete clinical response usually is evident within 1–3 months

Prognosis: If untreated, the disease is fatal.

Q: Describe the typical patient with Whipple Disease? White, middle-aged man

Q: What is the most common presenting symptom seen in Whipple disease? Weight loss

Q: What is the most common form of ocular disease seen in Whipple’s? Uveitis

Q: What is the most common site for relapse in Whipple Disease? CNS

Q:What is the most common skin lesion in Whipple Disease? Hyperpigmentation

Q:  What is the characteristic histologic finding in Whipple disease?  is the presence of PAS-positive macrophages

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