From the Guidelines
Testing for Whipple disease should involve a combination of small intestinal biopsy with periodic acid-Schiff (PAS) staining and PCR testing for Tropheryma whipplei DNA, as this approach provides the highest sensitivity and specificity for diagnosis. According to the study published in Gastroenterology in 2021 1, Whipple disease is characterized by joint inflammation, sun-exposed skin, and PAS-positive macrophagic infiltration of the lamina propria. The diagnosis can be confirmed by positive PCR for Tropheryma whipplei.
Some key points to consider when testing for Whipple disease include:
- Small intestinal biopsy is the most definitive test, allowing for the examination of tissue samples for the presence of Tropheryma whipplei bacteria using PAS staining and PCR testing.
- PCR testing of biopsy tissue provides higher sensitivity and specificity by detecting T. whipplei DNA.
- In cases where gastrointestinal symptoms are absent, PCR testing can be performed on other affected tissues such as heart valves, cerebrospinal fluid, synovial fluid, or lymph nodes.
- Blood tests may show signs of malabsorption and inflammation but are not specific for Whipple disease.
- Endoscopy often reveals pale, shaggy intestinal mucosa with dilated lacteals.
It is essential to note that Whipple disease is a rare but potentially fatal condition if left untreated, and a comprehensive diagnostic approach is necessary as the disease can affect multiple organ systems beyond the gastrointestinal tract, including the central nervous system, heart, and joints, as outlined in the study 1.
From the Research
Diagnosis of Whipple Disease
To test for Whipple disease, several methods can be employed, including:
- PCR (polymerase chain reaction) to detect the presence of Tropheryma whipplei DNA in tissue samples or bodily fluids 2
- Histological examination of intestinal biopsies to identify the characteristic changes associated with Whipple disease 3
- Clinical evaluation of symptoms such as arthralgias, weight loss, and gastrointestinal disturbances 2, 4
Treatment and Management
The treatment of Whipple disease typically involves the use of antibiotics, with the goal of eradicating the infection and preventing relapse. Some studies suggest that:
- A combination of ceftriaxone or meropenem followed by trimethoprim-sulfamethoxazole is effective in treating Whipple disease 3, 5
- Doxycycline and hydroxychloroquine may be used as an alternative treatment regimen, with doxycycline continued for the patient's lifetime to prevent relapse 2, 4
- Parenteral penicillin and streptomycin followed by oral trimethoprim-sulfamethoxazole may also be used as initial therapy 6
Relapse and Prognosis
Relapse is a significant concern in Whipple disease, with some studies indicating that: