Whipple’s disease – causes, symptoms, diagnosis, treatment

It is a very rare infectious disease, classified as a gastrointestinal disease. For many years, it has not been possible to find a factor responsible for its development.

It was suspected that the cause of the disease was a bacterium, but it was not until 1991 that it was identified. This is Tropheryma whipplei – gram positive cane. It was isolated and bred 10 years later. However, scientists believe that macrophage defects are an equally important component in the development of the disease.

The disease is accompanied by malabsorption and the resulting malnutrition and is therefore often confused with celiac disease. But Whipple’s disease also includes fever, inflammation of the mucous membranes, swollen lymph nodes, and anemia.

About 30 cases are registered annually in the world. However, only 200 confirmed cases of this disease have been described in total. It is a disease of white people, more often men than women. Usually shows up between 40-50. years of age, but this is not always the case.

Whipple’s disease – looking for causes

Whipple’s disease is also called intestinal lipodystrophy. In fact, it is a multi-system bacterial infection. The first mention of the disease dates back to 1907. It was described by George Whipple, an eminent American physician, who in 1934 won the Nobel Prize in physiology and medicine.

The route of infection has not been fully elucidated. There is talk of a genetic predisposition and an acquired predisposition to infection. In the course of the disease, many organs and systems are infected. Most often, the bacterium settles in the digestive tract, but it can also colonize the circulatory system, central nervous system and respiratory system. It also often attacks joints and skin.

What are the symptoms of Whipple’s disease?

Simply put, the symptoms are non-specific and resemble the symptoms of many gastrointestinal diseases. In addition to changes in individual systems and organs, the presence of general symptoms is also characteristic – most often chills and fever. The symptoms of individual body systems are also important. And yes:

– on the part of the digestive system, there may be: abdominal pain, diarrhea with or without blood, fatty stools, visible weight loss, even leading to exhaustion, which is associated with poor absorption of nutrients,

– on the part of the circulatory system, there may be pathological heart murmurs, endocarditis, constrictive pericarditis, changes in the coronary vessels that increase the risk of a heart attack, circulatory failure and the resulting edema. Iron deficiency anemia is also common,

– CNS symptoms may include ptosis, irregular gait, shortening of the stride (atactic gait), depression, dementia, personality changes, memory impairment, insomnia, eating disorders and seizures,

– pneumonia, exudative pleurisy may appear on the part of the respiratory system,

– on the part of the osteoarticular system, migratory polyarthritis appears, mainly in the large joints (hip, shoulder, knee). The joints of the spine are also inflamed.

In addition, there is enlargement of the peripheral lymph nodes, the mesentery lymph nodes of the small intestine and the abnormal color of the skin.

Whipple’s disease – diagnosis

As the symptoms of the disease affect various systems, the diagnosis is not easy. Often, patients go around between doctors of various specialties, but they do not receive effective help from any of them. Usually, the true diagnosis is made when the disease becomes fully symptomatic.

Patients undergo a lot of specialist examinations, and the doctor’s diagnosis is carried out by the elimination of diseases that may manifest themselves in a similar way. The final diagnosis is made on the basis of examining the mucosa of the small intestine. The material is collected during endoscopic examination of the duodenum or other parts of the small intestine. It is also possible to identify bacteria through the polymerase chain reaction (PCR). A method used in laboratories to duplicate DNA chains in tissue material or in body fluids collected during invasive tests. Imaging tests are also important – ultrasound and CT of the abdominal cavity, which show enlarged mesenteric lymph nodes and thickening of the small intestine wall.

Whipple’s disease – treatment

The only treatment option is long-term antibiotic therapy. Treatment is not always effective. Its success depends on the severity of symptoms and their duration. Some medications are taken for a year and others for 2 weeks. The choice of treatment depends on the doctor and the severity of the changes made by the disease. The disease may recur and then you will need to be treated again. The patient’s health is monitored by performing a biopsy of the small intestine and blood tests with the determination of inflammatory parameters. Blood tests also allow you to replenish the deficiencies of nutrients.

Tekst: Anna Jarosz

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