Whipple’s disease represents a very rare infectious disease of the intestine, which, however, can secondarily 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 called Wipple’s disease or intestinal lipodystrophy, 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). It was only after his death that the causative bacterium was discovered in 1991 and 1992. Starting from the intestine, the disease develops into a systemic condition with involvement of many other organs. Without treatment, the prognosis is very poor. Due to general organ failure, it then almost always ends fatally. However, the disease is very rare. Worldwide, only about 1000 cases have been described. The disease usually occurs between the ages of 40 and 55, although other age groups may also be affected. Only children and adolescents seem to be spared from the infection. Men have been found to be eight times more likely to develop Whipple’s disease than women. The cause of this is not known. Most cases have been detected in rural areas. There is no transmission of the infection by contagion.
Causes
The cause of Whipple’s disease is thought to be infection with the bacterium Tropheryma whipplei. The pathogen probably enters the intestine via oral ingestion. Despite its frequency, however, very few people contract Whipple’s disease. This may be due to the fact that a genetic defect is required to trigger the disease. The pathogen is phagocytized by macrophages. But the macrophages remain in the mucosa and create a lymphatic congestion. This causes the mucosa of the small intestine to swell severely. In studies, PAS staining revealed that the macrophages contain sickle-shaped inclusion bodies. The phagocytizing macrophages are also found in other organs. The cause of the lymphatic congestion is probably incomplete degradation of the entrapped pathogens. Therefore, a genetic defect is suspected, which limits the function of the macrophages. In addition, the antigen variant HLA-B27 has been found very frequently in those with the disease.
Symptoms, complaints, and signs
Whipple disease is characterized by a variety of different symptoms. Primarily, the disease is an infection of the small intestine, which later spreads to the entire body. Therefore, a distinction is made between intestinal and extraintestinal symptoms. Intestinal symptoms include abdominal pain, foul-smelling stools, fatty stools, diarrhea, meteorism, and weight loss. Typical malabsorption features occur with nutrient, vitamin and mineral deficiencies, muscle weakness, anemia and mucosal changes. Extraintestinal symptoms include fever, lymph node swelling, enteropathic arthritis, heart failure, or even dementia due to central nervous system involvement. The disease is progressive and is always fatal without treatment. Even after therapy, recurrences can still occur years later. In this case, it is usually no longer the intestine that is affected, but the central nervous system and the brain. Therefore, relapses mainly occur in the form of neurological deficits.
Diagnosis and course of the disease
Whipple’s disease is diagnosed via endoscopic workup. This reveals numerous, white lymphatic vessels that are congested. On imaging, this looks like a snow flurry. Furthermore, a biopsy is performed with SPC cell detection using PAS staining. Radiologically, palisade enhancement of the Kerck ring folds of the small intestine is noted. In the examination of the stool, the pathogen Tropheryma whipplei must still be found for the final diagnosis. This pathogen detection is considered the only conclusive evidence of the disease. In order to assess the involvement of the internal organs, imaging procedures such as X-ray examinations of the intestine, sonography and CT of the abdomen, magnetic resonance imaging of the brain or ultrasound examination of the heart are performed.
Complications
Whipple’s disease must be treated by a physician in all cases.Without treatment, this disease can, in the worst case, lead to the death of the patient. Those affected suffer primarily from complaints of the intestines and stomach. There is often fatty stool and pain in the abdomen. In addition, the stools are often foul-smelling and there is relatively severe weight loss. Whipple’s disease also causes general fatigue and muscle weakness in the affected person. Patients suffer from vitamin deficiencies and mineral deficiencies, which can generally have a very negative effect on the patient’s health. Furthermore, heart failure occurs, which can lead to death. Symptoms of dementia may also occur, significantly reducing the patient’s quality of life. A self-healing of Whipple’s disease usually does not occur. Furthermore, the motor function of the affected person is also limited by the disease. Treatment of Whipple’s disease is carried out with the help of antibiotics and leads to success in many cases. However, complications occur when treatment is started too late and the pathogens have already spread to other organs. In most cases, patients are then dependent on prolonged therapy.
When should you see a doctor?
A doctor should be consulted as soon as there are persistent or repeated irregularities in digestion. If there is fatty stool, constipation or diarrhea, the affected person needs help. If abdominal pain sets in or if there is an unusual noise within the digestive tract, a visit to the doctor is advised. Unwanted weight loss is always a warning signal from the body. It must be clarified by a doctor so that it does not lead to an acute health-threatening condition of the affected person. A decrease in muscle strength, reduced performance capacity and low physical resilience must be examined and treated. An elevated body temperature, swelling of the lymph and disturbances of the heart rhythm indicate irregularities that must be assessed by a physician. If a loss of mental competence is observed, if there are problems with orientation or concentration, or if there is a disturbance in memory, a doctor should be consulted. Pain in the joints or restrictions in mobility are cause for concern and are indications of an existing illness requiring action. If the existing complaints increase in scope and intensity or if further irregularities develop, a doctor should be consulted. Since without medical treatment, Whipple’s disease will cause the patient to die prematurely, a visit to the physician should be made at the first sign of an irregularity.
Treatment and therapy
Antibiotics are used to treat Whipple’s disease. Penicillins, sulfonamides, tetracyclines, cephalosporins or macrolides have proven particularly effective. After one week of treatment, many symptoms such as diarrhea and fever disappear. However, it has been shown that Whipple’s disease often recurs, but usually with neurological deficits. This suggests incomplete elimination of the pathogen. The pathogen eventually settles in almost all organs, making it increasingly difficult to reach by antibiotics. Because of the few cases of disease, there is also little experience for its complete control. Therefore, antibiotic therapy has been extended to at least one year in the hope of reaching all pathogens. Conclusive experience with this has not yet been gained. Above all, it is unclear whether the pathogens located in the brain can also be combated with this. Cases have been reported where neurological symptoms have reappeared even after several years. Parallel to the antibiotic treatment, it is necessary in the beginning to gradually build up the body. For this purpose, vitamins, minerals and trace elements must be administered systematically. Today, in order to gain long-term experience, the success of the therapy is constantly monitored by regular follow-up examinations. This is done by further control endoscopies. These follow-up examinations should be performed for at least ten years.
Outlook and prognosis
The prognosis for Whipple disease depends on treatment. This emaciation of the body due to malabsorption and weight loss is fatal if left untreated. However, it takes a 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 successful treatment depends to a large extent on the antibiotics and any resistance. If treated correctly, the infection can be fought successfully. In the following, the patient must 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 delayed diagnosis often has a negative effect on the prognosis. In addition, it is possible for the disease to break out again years after treatment. This is due to bacterial populations that are still present and have usually taken up residence in the brain, where they are inaccessible to therapy. In such relapses, neurological symptoms often occur. Because the symptoms caused by Whipple’s disease are very serious and can be fatal, the prognosis is very good for treated Whipple’s disease.
Prevention
To date, no recommendations can be made for prevention of Whipple disease, especially since there probably must be a genetic predisposition for the pathogenesis of the disease. The pathogen is found everywhere and enters the body through food.
Follow-up
Most affected individuals have very few and usually very limited aftercare measures available to them for Whipple’s disease. For this reason, the affected person should ideally see a doctor very early in this disease to avoid other complications and symptoms. In the worst case, death can occur if Whipple’s disease is not treated properly or is detected late. Since it is a genetic disease, a complete cure is usually not possible. Affected individuals should have genetic testing and counseling if they wish to have children to prevent the disease from recurring in their descendants. As a rule, those affected are dependent on taking medication to permanently limit the symptoms. This often involves taking antibiotics, and the affected person should not drink alcohol while taking them. In general, a healthy lifestyle with a balanced diet also has a very positive effect on the further course of the disease. Many of those affected must expect a reduced life expectancy due to Whipple’s disease despite treatment.
What you can do yourself
Patients affected by Whipple’s disease may be treated with various antibiotics for a very long time. This treatment should also not be questioned by the patient or stopped by his or her own hand, otherwise the disease can be fatal. However, a 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 found in the intestines and contribute to a well-functioning immune system. For a healthy intestinal flora, Whipple’s disease patients can take living microorganisms during their antibiotic treatment and beyond, which are available as so-called probiotics in pharmacies. They are intended to compensate for the loss of germs caused by the antibiotics. Less stress, a regulated life without nicotine and alcohol, but with plenty of exercise and sufficient sleep can also promote healing. The attending physician may prescribe vitamins and minerals to compensate for the vitamin and mineral deficiencies that occurred during the illness. Of course, a conscious lifestyle, which includes a healthy, low-sugar diet, also contributes additively to this. It should contain as many fresh, vitamin-rich foods as possible, such as fruits and vegetables, as well as lean meat, eggs and fiber from natural whole-grain products such as oatmeal, and omega-3 fatty acids from valuable linseed or fish oil.