Whipple's disease

Of the Whipple's disease is a very rare infectious disease of the intestine, which, however, can also affect all other organs of the body. Little is known about the pathogenesis of the disease. If left untreated, Whipple's disease leads to death.

What is Whipple's disease?

Whipple's disease, also Wipple disease or intestinal lipodystrophy called, is an infectious disease of the small intestine caused by the pathogen Tropheryma whipplei. The disease was first described by the American pathologist George Hoyt Whipple (1878-1976). Only after his death was the causative bacterium discovered in 1991 and 1992.

Starting from the intestine, the disease develops into a systemic condition involving many other organs. Without treatment, the prognosis is very poor. It is then almost always fatal due to general organ failure. However, the disease is very rare. So far, only about 1000 cases have been described worldwide.

The disease usually occurs between the ages of 40 and 55, although other age groups can also be affected. Only children and adolescents seem to be spared the infection. It was found that men are eight times more likely than women to develop Whipple's disease. The cause is not known. Most of the cases were discovered in rural areas. The infection is not passed on through contagion.

causes

Infection with the bacterium Tropheryma whipplei is considered to be the cause of Whipple's disease. The pathogen probably enters the intestine via oral intake. However, despite its frequency, very few people develop Whipple's disease. This may be due to the fact that a genetic defect is a prerequisite for it to be triggered. The pathogen is phagocytosed by macrophages. But the macrophages remain in the mucous membrane and cause lymphatic congestion. The mucous membrane of the small intestine swells considerably.

Investigations have shown that the macrophages contain sickle-shaped inclusion bodies by means of the PAS staining. The phagocytic macrophages are also found in other organs. The cause of the lymph congestion is probably the incomplete breakdown of the trapped pathogens. Therefore a genetic defect is suspected, which limits the function of the macrophages. In addition, the antigen variant HLA-B27 was found very frequently in the sick.

Symptoms, ailments & signs

Whipple's disease is characterized by a variety of different symptoms. The disease is primarily an infection of the small intestine, which later spreads to the entire body. A distinction is therefore made between intestinal and extraintestinal symptoms. The intestinal symptoms are characterized by abdominal pain, foul smelling stool, fatty stools, diarrhea, meteorism and weight loss, among other things.

Typical malabsorption features occur with nutrient, vitamin and mineral deficiencies, muscle weakness, anemia and changes in the mucous membrane.Extraintestinal symptoms include fever, lymph node swelling, enteropathic arthritis, heart failure or even dementia due to involvement of the central nervous system.

The disease is progressive and always fatal if left untreated. Even after therapy, relapses can occur years later. In most cases, the bowel is no longer affected, but the central nervous system and the brain. Therefore the relapses occur mainly in the form of neurological failures.

Diagnosis & course of disease

Whipple's disease is diagnosed through an endoscopic evaluation. There are numerous, white lymph vessels that are blocked. On the recordings it looks like a snowstorm. In addition, a biopsy is carried out in which the SPC cells are detected using PAS staining. Radiologically, a palisade-like enhancement of the Kerck ring folds of the small intestine is determined.

When examining the stool, the pathogen Tropheryma whipplei must be found for the final diagnosis. This pathogen detection is the only conclusive evidence of the disease. In order to be able to assess the involvement of the internal organs, imaging tests such as X-ray examinations of the intestine, sonography and CT of the abdominal cavity, magnetic resonance imaging of the brain or ultrasound examination of the heart are carried out.

Complications

Whipple's disease must definitely be treated by a doctor. If left untreated, this disease can, in the worst case, lead to patient death. Those affected suffer primarily from gastrointestinal and gastric discomfort. This often leads to a fatty stool and pain in the abdomen.

In addition, bowel movements are often foul-smelling and there is relatively severe weight loss. Whipple's disease also leads to general fatigue and muscle weakness in those affected. The patients suffer from a lack of vitamins and minerals, which in general can have very negative effects on the patient's health.

Furthermore, it leads to heart failure, which can lead to death. Symptoms of dementia can also occur, thereby significantly reducing the patient's quality of life. Whipple's disease usually does not heal itself. Furthermore, the affected person's motor skills are also restricted by the disease.

The treatment of Whipple's disease is done with the help of antibiotics and in many cases it is successful. However, complications arise when treatment is started too late and the pathogens have already spread to other organs. Most of the time, the patients are then dependent on lengthy therapy.

When should you go to the doctor?

A doctor should be consulted as soon as persistent or repeated irregularities in digestion occur. Those affected need help with fatty stools, constipation or diarrhea. If you experience abdominal pain or if unusual noises develop within the digestive tract, it is advisable to see a doctor. Unintentional weight loss is always a warning signal for the organism.

It must be clarified by a doctor so that there is no acute health-threatening condition of the person concerned. A decrease in muscle strength, decreased performance and a low level of physical resilience should be examined and treated. An increased body temperature, swelling of the lymph and disturbances in the heart rhythm indicate irregularities that must be examined by a doctor.

A doctor should be consulted if a loss of intellectual skills is found, if there are orientation or concentration problems or if there is a memory problem. Pain in the joints or restricted mobility are worrying and are indications of an existing disease that requires action. If the existing symptoms increase in scope and intensity or if further irregularities arise, a doctor should be consulted. Since the patient may die prematurely without medical treatment for Whipple's disease, a doctor should be seen at the first signs of a discrepancy.

Therapy & Treatment

Antibiotics are used to treat Whipple's disease. Penicillins, sulfonamides, tetracyclines, cephalosporins or macrolides have proven particularly useful. After a week of treatment, many symptoms such as diarrhea and fever disappear. However, it has been shown that recurrences often occur in Whipple's disease, although neurological deficits usually occur. This suggests incomplete elimination of the pathogen.

The pathogen eventually settles in almost all organs and is therefore increasingly difficult to reach with antibiotics. Due to the small number of cases of the disease, there is also little experience with its complete control. Therefore, a move was made to extend antibiotic therapy to at least one year in the hope of being able to reach all pathogens. No final experiences have yet been made with it.

Above all, it is unclear whether the pathogens in the brain can also be combated with it. Cases have been reported in which neurological symptoms have recurred after several years. In parallel with antibiotic treatment, at the beginning it is necessary to gradually build up the body. To this end, vitamins, minerals and trace elements must be administered systematically.

In order to gain long-term experience, the success of the therapy is now constantly monitored through regular follow-up examinations. This is done through further control endoscopies. These follow-ups should be carried out for at least ten years.

Outlook & forecast

The prognosis for Whipple's disease depends on the treatment. This emaciation of the body through malabsorption and weight loss is fatal if left untreated. However, it takes a very long time for a healthy person to be weakened by this infection to the point of death. This leaves room for treatment approaches.

The prospect of a successful treatment depends largely on the antibiotics and any resistances. If handled and treated correctly, the infection can be combated successfully. In the following, the sick person has to rebuild his body, which makes good nutrition indispensable.

The danger with Whipple's disease is not so much in the clinical picture, which is considered to be easily treatable. Rather, a belated diagnosis often has a negative effect on the prognosis. It is also possible that the disease will break out again years after treatment. This is then due to the bacterial populations that are still present, which as a rule have established themselves in the brain and are not accessible there for therapies. Such relapses often lead to neurological symptoms.

While the symptoms caused by Whipple's disease are very serious and can be fatal, the prognosis for treated Whipple's disease is very good.

prevention

So far, no recommendations for the prevention of Whipple's disease can be given, especially since a genetic predisposition must be present for the pathogenesis of the disease. The pathogen occurs everywhere and enters the body through food.

Aftercare

Most people affected by Whipple's disease have very few and usually only very limited follow-up measures available. For this reason, the person affected with this disease should ideally consult a doctor very early to avoid other complications and complaints. In the worst case, it can lead to death if Whipple's disease is not treated properly or is diagnosed late.

Since this is a genetic disease, a complete cure is usually not possible. If the person concerned wants to have a child, he or she should have a genetic examination and advice carried out so that the disease cannot recur in the descendants. As a rule, those affected are dependent on taking medication in order to limit the symptoms permanently.

It is often necessary to take antibiotics, although the person affected should not drink alcohol while taking them. In general, a healthy lifestyle with a balanced diet has a very positive effect on the further course of the disease. Many of those affected have to expect a reduced life expectancy from Whipple's disease despite treatment.

You can do that yourself

Patients with Whipple's disease may be treated with various antibiotics for a long time. This treatment should not be questioned or canceled by the patient, as the disease can be fatal. However, long antibiotic therapy also has the disadvantage that it not only kills dangerous germs and bacteria, but also healthy ones.

This also applies to the germs that are in the intestine and contribute to a well-functioning immune system. For a healthy intestinal flora, Whipple's disease patients can take live microorganisms during their antibiotic treatment and beyond, which are available as so-called probiotics in pharmacies. They should compensate for the loss of germs through the antibiotics. Less stress, a regular life without nicotine and alcohol, but with plenty of exercise and adequate sleep can also promote healing. The attending physician may prescribe vitamins and minerals to compensate for the vitamin and mineral deficiency that occurred during the illness.

Of course, a conscious lifestyle, which includes a healthy, low-sugar diet, also contributes to this. It should contain as many fresh, vitamin-rich foods as possible, such as fruit and vegetables, plus lean meat, eggs and fiber from natural wholegrain products such as oat flakes and omega-3 fatty acids from valuable flax or fish oil.