What are the other Names for this Condition? (Also known as/Synonyms)

• Intestinal Lipodystrophy
• Intestinal Whipple's Disease

What is Whipple’s Disease? (Definition/Background Information)

• Whipple’s Disease is a rare infectious disease caused by the bacterium Tropheryma whipplei
• The infection can affect different parts of the body, such as the joints, brain, lung, eyes, heart, and other regions
• Whipple’s Disease causes a variety of signs and symptoms, including poor absorption of food from the gastrointestinal tract (malabsorption). The most common signs and symptoms are weight loss, chronic non-bloody diarrhea, and frequent joint pains
• The bacterial infection is treated using antibiotics and the prognosis is generally very good, if properly treated with antibiotics

Who gets Whipple’s Disease? (Age and Sex Distribution)

• Whipple’s Disease is usually diagnosed in middle-aged (and older) individuals, with median age of diagnosis being 49 years
• The condition affects both males and females. However, it affects males a lot more than females, in a male-female ratio of 8:1
• The disease commonly occurs in farmers and individuals, who are frequently exposed to soil and animals
• Individuals, who have a decreased immune function, are at an increased risk of Whipple’s Disease
• Caucasians are affected the most, when compared to other races and ethnic groups

What are the Risk Factors for Whipple’s Disease? (Predisposing Factors)

The risk factors for Whipple’s Disease include:

• Individuals, with a decreased immune function (defective T-lymphocyte function) are at an increased risk
• Middle age and older adults
• Caucasians
• Genetic factors present in family history
• Sewage plant workers
• Farmers and agriculturist

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Whipple’s Disease? (Etiology)

• Tropheryma whipplei is a type of bacterium that causes the infectious Whipple’s Disease
• The T. whipplei bacteria attack the villi (small finger-shaped protrusions lining the intestines), damaging the villi, which take on an irregular shape
• The damage caused to the intestinal lining, interferes with the ability of the intestines to absorb nutrients properly
• Genetic factors, which affect an individual’s immune system could be another reason for Whipple’s Disease

What are the Signs and Symptoms of Whipple’s Disease?

Around 15% of the individuals may not show any signs and symptoms of Whipple’s Disease. In others, the signs and symptoms could include:

Gastro-intestinal symptoms:

• Pain in the abdomen
• Diarrhea
• Weight loss, due to loss of appetite
• Distension - increase in pressure and volume in the abdomen
• Steatorrhea - presence of excess fat in feces
• Gastrointestinal bleeding

Musculoskeletal and skin symptoms:

• Polyarthralgia - pain and aches in many joints
• Hyperpigmentation - darkening of the skin, due to increase in melamine
• Lymphadenopathy - bulging of the lymph nodes

Cardiac symptoms:

• Pericarditis - inflammation of the sac-like covering, around the heart
• Myocarditis - inflammation of the heart muscles
• Injury in the valves

Central nervous system related symptoms:

• Headache, confusion, dementia
• Ophthalmoplegia - vision problems in lateral gaze
• Myoclonus - sudden jerking of a muscle or a group of muscles
• Oculomasticatory myorhythmia - unique movement disorder affecting the eyes and mouth muscles
• Gait abnormalities - deviation from normal walking
• Seizures, brain disorders
• Coma, state of unconsciousness

Ocular symptoms:

• Uveitis - swelling of the uvea, the middle layer of the eye
• Vitritis - inflammation of the jelly, present in the rear side of the eye
• Keratitis - inflammation of the cornea, in the front portion of the eye
• Retinitis - inflammation of the retina, possibly leading to blindness
• Retinal hemorrhages - eye disorder, where bleeding occurs in the back of the eye

Pulmonary symptoms:

• Pleural effusion - accumulation of excess fluid around the lungs
• Stretching of the mediastinum

Other general symptoms include:

• Darkening of the skin
• Chest pain
• Mild fever
• Chronic cough
• Anemia and blood clotting related abnormalities

How is Whipple’s Disease Diagnosed?

A case of Whipple’s Disease may be diagnosed using the following methods:

• A complete physical examination and a thorough medical history
• The physician may order complete blood count, blood albumin level, and stool sample tests

The gold standard for the diagnosis of Whipple’s Disease is made by a biopsy of the duodenum, during an upper gastrointestinal endoscopy. Examination of the duodenal biopsy would show PAS-positive, non-acid fast organisms, within the macrophages.

• Molecular tests, such as polymerized chain reaction (PCR) can be performed on a variety of specimens, such as saliva, gastric fluid, and intestinal fluid
  • It is important to note that a positive PCR test, in the absence of signs and symptoms does not indicate Whipple’s Disease. This could be due to the fact that the bacteria causing Whipple’s Disease may be found in normal healthy individuals, without causing any infection
  • A negative PCR test would rule out the possibility of the disease
• Biopsy of the lymph nodes can also be performed, which may demonstrate the presence of the bacteria within the lymph nodes

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Whipple’s Disease?

The complications from Whipple’s Disease could include the following:

• Damage to the heart walls causing murmurs and heart dysfunction
• Nutritional deficiencies, due to poor absorption of vitamins
• Severe weight loss
• Brain damage

How is Whipple’s Disease Treated?

A treatment of Whipple’s Disease is undertaken using antibiotic therapy. Generally, antibiotic therapy should be administered for a prolonged period of time (1-2 years). The following antibiotics may be given:

• Intravenous ceftriaxone (Rocephin)
• Administering sulfamethoxazole-trimethoprim or SMX-TMP (Bactrim, Septra), for a period of 1-2 years
• When the infection is severe:
  • If the patient exhibits neurologic symptoms, oral doxycycline (vibramycin) in combination with the anti-malarial drug hydroxychloroquine (plaquenil) is administered
  • The antibiotics are prescribed for a long-term
  • Vitamin and mineral supplements may be given to compensate for the poor absorption of nutrients
• Studies have shown that treatment courses less than 1-year would result in the condition recurring, in about 40% of the individuals

How can Whipple’s Disease be Prevented?

• Current medical research has not established a way of preventing Whipple’s Disease.
• Medical screening at regular intervals with scans and physical examinations, are advised for those who have already endured the bacterial infection
• Farmers and sewage plant workers should contact their primary care physician early, if they are experiencing any of the symptoms of Whipple’s Disease

What is the Prognosis of Whipple’s Disease? (Outcomes/Resolutions)

• Whipple’s Disease prognosis is excellent with appropriate antibiotic treatment
• Without treatment, the condition can be fatal

Additional and Relevant Useful Information for Whipple’s Disease:

Whipple’s Disease was first described by George Whipple in the year 1907.