Whipple Disease

Snapshot

• A 56-year-old Caucasian man with a history of nonspecific arthritis complains of chronic GI upset. He has had diarrhea almost daily for several months now. He has lost 10 lbs unintentionally. His family has also noticed some loss of memory, such as forgetting where his keys are or forgetting someone’s birthday.

Introduction

• Malabsorption syndrome with multisystem involvement
• Caused by infection with Tropheryma whipplei
  • gram-positive bacillus
  • Actinomyces spp family
  • found in soil
• Epidemiology
  • seen in older Caucasian men
• Risk factors
• previous exposure to soil or animals

Presentation

• Symptoms
  • CAN (though may not present all at once) plus diarrhea
    • Cardiac symptoms
      • endocarditis
    • Arthralgias (very common and early in disease)
    • Neurologic symptoms
      • dementia
      • seizures
  • weight loss
  • emaciation
  • chronic diarrhea
  • oligo-arthritis
• Physical exam
  • fever
  • mesenteric lymphadenopathy
  • gray-brown pigmentation of skin
    • malabsorption of vitamin D
    • → hyperPTH
• → may lead to increased melanocyte stimulating hormone or adrenocorticotropic hormone

Evaluation

• Endoscopic small bowel biopsy – most accurate test
  • periodic acid-Schiff (PAS)-positive foamy macrophages 
• intestinal lamina propria

Differential Diagnosis

• Celiac disease 
• Crohn’s disease 
• Lyme disease (arthralgias)

Treatment

• Initial intravenous treatment with penicillin/ceftriaxone 
• Maintenance with oral trimethoprim-sulfamethoxazole (TMP-SMX)  

Prevention, Prognosis, Complications

• Prognosis
  • persistence after treatment common
  • fatal if antibiotics not given
• Complications
  • Jarisch-Herxheimer reaction to antibiotics
    • fevers
    • rigors
    • hypotension