Whipple's Disease: Symptoms, Diagnosis, Treatment | Dealing With Weight Loss and Chronic Diarrhea?

Whipple's Disease: Symptoms, Diagnosis, Treatment | Dealing With Weight Loss and Chronic Diarrhea?

  October 28, 2020    AVisenMD

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Whipple's disease is commonly thought of as a digestive issue exclusively, which is not the case. Additionally, it is so rare that it is often misdiagnosed as other more common digestive conditions. 

Objectives of this article:

•  What is Whipple's Disease?
  

•  What are the Symptoms of Whipple's Disease?
  

•  How is Whipple's Disease Diagnosed?
  

•  How is Whipple's Disease Treated?
  

•  Other Conditions Similar to Whipple's Disease

  
  

What is Whipple's Disease?

Whipple's disease (WD) is a rare but a chronic bacterial infection caused by a bacterium called Tropheryma whipplei. It interferes with the breakdown, digestion and absorption of food and vital nutrients that pass through the gut. 

While the bacterium predominantly affects the digestive system, it is not the only site of attack. Whipple's disease has debilitating effects on other organs such as the joints, heart, lungs, brain, eyes and skin, and therefore, produces specific symptoms accordingly. 

What are the Symptoms of Whipple's Disease?

• Joint pain: not all joint pains are arthritis! WD is easily misdiagnosed as other forms of chronic inflammatory arthritis. The medications that the patients are mistreated with results in even a more severe, life-threatening form of WD.
• Heart: the bacterium can invade the pericardium (outer covering of the heart), myocardium (the heart muscle) as well as the valves that the blood pumps through. This results in specific murmurs, particularly aortic and mitral valve insufficiency that has been noted in 25% of the cases, roughly. 
• Lungs: WD can invade the pleurae (outer covering) of the lungs as well as the lung tissue, which produces symptoms that can be misdiagnosed as lung cancer such as chronic cough, weight loss, difficulty breathing, pleural effusion (build-up of excess fluid between the coverings of the lungs).  
• Brain: Although very rare, WD can exclusively affect the CNS, without causing any gastrointestinal (GI) disturbances. Often without generating significant symptoms, CNS involvement results in worse outcomes with long-term effects such as cognitive impairment and dementia, so immediate tests and treatments are mandatory. 
• Eyes: Involvement of the eyes in WD generally occurs with GI and CNS symptoms and causes inflammation, swelling, and hemorrhage, which can lead to blurred vision or loss of vision.
• Skin: Skin manifestations primarily result from nutritional deficiencies due to malabsorption caused by WD. Hyperpigmentation results from Vitamin B3, B12 deficiency or low cortisol. Petechiae or purpura (red spots on skin) may appear due to Vitamin C or K deficiency. Also, swelling may result from increased protein loss from the GI tract.
• GI and associated common symptoms: severe diarrhea leading to anemia, nutrient deficiencies, abdominal pain/discomfort, low-grade fever, headache, cough, weight loss and muscle waste.
  

 How is Whipple's Disease Diagnosed?

Endoscopic examination of the small intestines with a tissue biopsy is the initial step in diagnosis. Endoscopy characteristically reveals swollen, red tissue with whitish appearance. Close study of the tissue under a microscope confirms the diagnosis. Other organ tissues may also be sampled relevant to the presenting signs and symptoms.  Specific test names that you may across are Polymerase Chain Reaction, or PCR (tells about the amount of bacteria present), Periodic-Acid Schiff, or PAS (stains bacteria pink for better visualization), electronic microscopy (high resolution reveals the presence of bacteria).

How is Whipple's Disease Treated?

WD was potentially fatal before the administration of antibiotics. However, at current times, it is efficiently treatable with a good prognosis. General guidelines include the following treatment regimen: IV ceftriazone or IV Penicillin for 2-4 weeks followed by trimethoprim-sulfamethoxazole for an additional year. When treated effectively, the symptoms generally resolve within 2-3 months.

Other Conditions That Mimic Whipple's Disease:

• Celiac Disease
• Crohn's Disease
• Irritable Bowel Syndrome (IBS)
• Lactose Intolerance
  
• Grain Allergy 

WD may be rare but it does exist and is very commonly misdiagnosed as other very different conditions but ones that produce similar symptoms. Immunocompromised middle-aged men in locations that lack proper sanitation and fresh water are at increased risk of contracting this illness. Fortunately, better diagnostic tests and the use of antibiotics can effectively treat this potentially chronic and fatal condition.

References:

 

Puéchal X. Whipple disease and arthritis. Curr Opin Rheumatol. 2001;13(1):74.

Bai JC, Mazure RM, Vazquez H, et al. Whipple’s disease. Clin Gastroenterol Hepatol. 2004;2(10):849-860.

Ratnaike RN. Whipple’s disease. Postgrad Med J. 2000;76(902):760-766.

Scheld WM. Whipple disease of the central nervous system. J Infect Dis. 2003;188(6):797-800.

Savaryn B, Decker M, Ye C, Bacani J, Houston S. An atypical case of Whipple’s disease presenting as fever of unknown origin: A brief review. Off J Assoc Med Microbiol Infect Dis Can. 2019;4(4):241-247.

Dolmans RAV, Boel CHE, Lacle MM, Kusters JG. Clinical Manifestations, Treatment, and Diagnosis of Tropheryma whipplei Infections. Clin Microbiol Rev. 2017;30(2):529-555.