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Whipple's disease (WD) is a chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (T. whipplei).
- Intestinal lipodystrophy
- Intestinal lipophagic granulomatosis
- Secondary non-tropical sprue
- Prevalence: Unknown
- Inheritance: Not applicable
- Age of onset: All ages
- ICD-10: K90.8+ M14.8*
- OMIM: -
- UMLS: C0023788 C2930851
- MeSH: C531849 D008061
- GARD: 7889
- MedDRA: 10047931
The incidence in Central European countries seems to be below 1 per million per year.
The clinical picture is variable. The following symptoms are frequent but not necessarily observed in each patient: weight loss, polyarthritis, diarrhea/malabsorption, fever, lymphadenopathy, cardiac valvular disease, culture-negative endocarditis, pleuritis, ocular inflammatory disease, and relapsing tenosynovitis. In some cases, a complex cerebral manifestation (such as cognitive dysfunction, ophthalmoplegia and myoclonus) can be observed.
T. whipplei has been found in sewage plant influx and can be excreted in the stool of healthy carriers and sewage plant workers. The circumstances facilitating an infection are unknown, but a genetic or acquired immunological predisposition is suspected.
The gold standard for the diagnosis of WD is the histological recognition by an experienced pathologist of the free or phagocytised rod-shaped bacteria with periodic-acid-SCHIFF (PAS) staining in macrophages from the duodenal mucosa or other tissue. False positive and false negative results can arise. The diagnosis in extraintestinal tissue should be ascertained by a positive polymerase chain reaction (PCR) for T. whipplei. As the majority of WD patients with infected cerebrospinal fluid (CSF) are asymptomatic at the time of diagnosis, the CSF should therefore be examined and evaluated for WD in every patient before antibiotic treatment.
The differential diagnosis includes seronegative polyarthritis, ankylosing spondylitis, culture-negative endocarditis, vasculitis, malabsorption syndrome, lymphoma, cerebrovascular disease, dementia, HIV infection, atypical mycobacteriosis and sarcoidosis (see these terms).
Management and treatment
Treatment consists of an initial phase of intravenous antibiotics followed by 12 months of antibiotic maintenance therapy and is generally successful, although relapses can occur.
Untreated WD is relentlessly progressive and leads to death either by wasting or by central nervous system involvement.