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Is Whipple’s Disease Hereditary?

Whipple’s disease is an infection by the Tropheryma whippelii bacteria that produces a variable affectation of different organs, being the joints, the digestive system, the heart and the central nervous system the main targets of the bacillus.

The mode of contamination and dissemination of Tropheryma whippelii is not known, but it does not seem that the disease is transmitted between people.

Is Whipple's Disease Hereditary?

Is Whipple’s Disease Hereditary?

Currently, there are still many unknown facts about Whipple’s disease including its hereditary nature. However, researches have realized that patients who have this rare disease possess an antigen called HLA-B27, which predisposes the person to an abnormal reaction to the aforementioned bacteria, and curiously these patients have a defect in their immune system which makes them more susceptible.

These bacteria are common in soil or water, and several cases of the disease have occurred in people who work where they have frequent contact with the soil such as agriculture and construction. These bacteria can also be part of the normal flora of the body. One study revealed its presence in saliva in 35% of a sample of 40 healthy patients. It is worth mentioning the fact that Whipple’s disease is more frequent in people who have an antigen known as HLA-B27 suggest that there may be a genetic predisposition (susceptibility) in people affected with the disease, resulting in an abnormal response to a bacterium that occurs frequently in humans. And most, if not all patients, have an immune defect that makes it more difficult to fight infections.

Classically, the Whipple’s disease has been divided into three stages, which may be spaced by years in time.

First Stage of Whipple’s Disease

In the first stage of Whipple’s disease, a non-specific clinical condition predominates, with arthralgia (joint pain), loss of appetite and weight, fever, abdominal pain, and cough.

Second Stage of Whipple’s Disease

A second phase of Whipple’s disease is characterized by the appearance of stearic-appearing diarrhea (with a high content of fat) with abdominal pain and significant weight loss.

Third Stage of Whipple’s Disease

Finally, there is a third stage of Whipple’s disease where neurological, cardiac complications and cutaneous hyperpigmentation appear, in addition to the already described manifestations, and a greater weight loss that can reach cachexia.

The natural evolution of the disease leads to death in a significant number of cases.

Joint involvement is the most frequent. It can occur many years before the rest of the symptoms and is characterized by symmetrical and migratory poly syndromes, with a predilection for the lower limbs.

The digestive manifestations may be absent in a high percentage of patients. As we have already said, it is usually very nonspecific, with abdominal pain and chronic diarrhea with stereotactic characteristics, with associated loss of appetite and weight.

In the central nervous system, the disease can manifest itself as a simple headache, or produce more variegated symptoms of meningitis (a headache, high fever and altered level of consciousness), or the classic triad of this neurological disease, which consists of:


-Alterations in ocular mobility.

-Mioclonia (abnormal involuntary movements).

Another system frequently involved in the cardiovascular system. They are usually late manifestations of the Whipple’s disease. Pericarditis, myocarditis or endocarditis can occur, difficult to diagnose etiologically due to the negativity of the cultures, and the usual temporary separation from the rest of the clinical presentation.

Finally, lesions of other organs, such as the eyes, where they may appear in the form of uveitis or keratitis have also been described.

Prognosis of Whipple’s Disease

Since the discovery of the infectious origin of the clinical manifestations and the arrival of antibiotics, the prognosis of the disease has improved substantially, reaching a cure rate without sequelae greater than 90%.

However, relapses are still frequent, usually in a neurological or cardiovascular condition. These usually occur in the first four years after diagnosis, so a prolonged medical follow-up is recommended (up to 10 years are recommended).

Treatment for Whipple’s Disease

The treatment of Whipple’s disease is with antibiotics and has greatly improved the prognosis of it. This is done in two phases:

-A two-week initial phase, with of intramuscular penicillin G and streptomycin.

-A maintenance phase, with trimethoprim-sulfamethoxazole. The duration of this second phase is variable.


  1. “Whipple’s Disease: A Comprehensive Review” by The American Journal of Gastroenterology Link: https://journals.lww.com/ajg/Fulltext/2012/12000/Whipple_s_Disease__A_Comprehensive_Review.10.aspx

  2. “Tropheryma Whipplei Infection (Whipple’s Disease): Emerging Advances in Diagnostic and Therapeutic Aspects” by Infectious Disorders – Drug Targets Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999471/

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:August 23, 2023

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