Clinical Features And Spectrum

The clinical picture is often multifaceted. In the past, WD was often considered to be a gastrointestinal disease, but it is now established that nearly every organ system can be involved. The course varies in the same extent, so it was suggested that different clinical courses may result from T. whipplei subtypes, identified according to its 16S-23S rDNA.[11] Mostly affected are Caucasian middle-aged men (male/female ratio 8:1), but no valid estimates of the incidence are available.

The initial complaints are mostly arthralgia and swelling of the joints. This seronegative, nondestructive arthropathy in an approximate frequency of up to 85% can occur years before diagnosis and is often associated with HLA-B27. Affected joints are predominantly peripheral. Arthropathy in knees, wrists, and ankles occur in about 45% each.[12]

Diarrhea is the other major symptom. It is followed by a general malabsorption resulting in weight loss and anorexia. Weight loss can be found in about 90% of the patients. Gastrointestinal symptoms, which lead to the diagnosis, consist of episodic and watery diarrhea and steatorrhea accompanied by colicky abdominal pain and, in one-third, by occult blood in stool.[13] Endoscopic investigation reveals a pale yellow mucosa alternating with erythematous, erosive parts in the duodenum or jejunum, and duodenal biopsies are positive in the PAS stain.

A less frequent but severe course is the infection of the central nervous system (CNS). Dementia, personality changes, or memory disorders can become apparent as well as myoclonia, nystagmus, or ophtalmoplegia. In some cases CNS involvement is found without other affections.

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