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By Mayo Clinic staffWhipple's disease is rare and many doctors may be unfamiliar with the disorder, so it's often diagnosed in its late stages. However, the earlier the diagnosis, the better because of the serious health risks associated with not treating the condition. If your doctor is uncertain about the diagnosis, he or she may refer you to a doctor who specializes in digestive diseases or another specialist based on the symptoms you are having.
The process of diagnosing Whipple's disease typically includes the following tests:
- Physical exam. Your doctor will likely begin with a complete physical exam, looking for signs and symptoms that suggest the presence of the condition — for example, abdominal tenderness and skin darkening, particularly on sun-exposed parts of your body.
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Biopsy. An important step in diagnosing Whipple's disease is taking a tissue sample (biopsy), most often obtained from the lining of the small intestine. To do this, your doctor typically performs an upper endoscopy. The procedure uses a thin, flexible scope that passes through your mouth, throat, esophagus and stomach to your small intestine. The scope allows your doctor to view your digestive passages and obtain biopsies.
During the procedure, tissue samples are removed from several sites within your intestine. This tissue is microscopically examined for the presence of disease-causing bacteria and their lesions, and specifically for Tropheryma whipplei bacteria. If biopsies of the small intestine don't confirm the diagnosis, your doctor might biopsy an enlarged lymph node or perform other tests if you have neurological symptoms, such as seizures.
- Blood tests. Your doctor may also order blood tests, such as a complete blood count (CBC). Blood tests can detect certain conditions associated with Whipple's disease, particularly anemia, which is a decline in the number of red blood cells, and low concentrations of albumin, a protein in your blood.