Whipple’s Disease is a rare systemic infection caused by the bacterium Tropheryma whipplei. This disease disproportionally affects middle aged Caucasian men, and typically presents with nonspecific symptoms including diarrhoea, joint pain, and weight loss. Routine cultivation of the bacterium is not feasible, making an early diagnosis difficult. If left untreated the infection can involve the brain, heart, and eyes. Antibiotic treatment of T. whipplei leads to a rapid improvement in a patient’s clinical condition, with full eradication requiring prolonged/lifelong treatment. Fatal outcomes are associated with a delayed diagnosis, or a misdiagnosis such as an autoimmune/inflammatory disorder with subsequent immunosuppressive treatment.
Our laboratory is one of the few laboratories in Australia offering molecular confirmation of this infection. This presentation will review our experience to date and describe two recent cases illustrating how the addition of non-invasive diagnostic molecular techniques are contributing to earlier diagnoses and improved outcomes.