Whipple disease is a rare systemic infection that affects the small intestine, joints, central nervous system (CNS), and cardiovascular system. Typically beginning as gastroenteritis, it is slowly progressive, with relapsing signs and symptoms. Fewer than 1,000 cases have been reported worldwide, mostly in North America and Western Europe. Whipple disease has been found primarily to affect white men over the age of 40. Recent studies have shown that the causative bacterium, Tropheryma whippleii, is present in fecal samples from healthy adults in Europe (1% to 11%) and in children from Senegal (44%). Diagnosis is sometimes difficult, as this is a rare disease. Without proper treatment, however, Whipple disease is fatal.
In patients with Whipple disease, T. whippleii bacteria infiltrate the tissue of various body systems, such as the lamina propria of the small bowel, synovial tissue in the joints, heart valves, and CNS. The exact method by which Whipple disease is acquired has not been established.
Irreversible CNS complications may occur in Whipple disease, such as seizures or dementia. Left untreated, Whipple disease is always fatal.
Patients with Whipple disease usually present with GI complaints of chronic watery or fatty diarrhea, abdominal pain that is usually more severe after eating, and weight loss. Other initial complaints may include joint pain, fever, blurry vision or night blindness, and chest pain. Inspection may reveal a patient who appears cachetic with a distended abdomen. Peristalsis may be visible and hyperactive bowel sounds audible. Chvostek and Trousseau signs may be elicited. Gingivitis may be present. Abdominal palpation may reveal tenderness and detect an ill-defined mass. With CNS involvement, ataxia or clonus may be noted, and signs of meningoencephalitis may be present. The family may also report cognitive or personality changes in the patient or an altered mental status.
Many patients may have symptoms for up to 5 years before seeking care because of the vagueness of the initial symptoms. A proposed staging of Whipple disease follows: