Whipple disease

Abstract

Whipple disease is a rare disease caused by infection with the bacterium Tropheryma whippelii. Humans are the only known host for the infection. The signs of systemic infection include gastrointestinal problems, weight loss, and arthritis. Signs of central nervous system infection include cognitive changes, supranuclear gaze palsy, altered level of consciousness, and movement disorders. The diagnosis is based on clinical findings as well as microscopic examination of biopsy specimens and, more recently, polymerase chain reaction (PCR) analysis, which has high sensitivity and specificity. Although the organism historically has been difficult to culture, several recent attempts have been successful. Antibiotic treatment is recommended for 1 year while monitoring the clinical signs and cerebrospinal fluid PCR results.

Neurologic manifestations of Whipple’s disease

“…These cognitive changes are often associated with depression, personality changes, or other psychiatric disturbances (paranoia, disinhibition, or confabulation) [10]. In Louis' study [6], 47% of patients with cognitive symptoms also had psychiatric signs. It is generally thought that these cognitive and neuropsychiatric symptoms do not improve with treatment [7].…”

“…The prevalence is higher in men, who account for more than 80% of cases [6], and the mean age at diagnosis is 50 years [7]. Bacterial DNA has been detected in the feces of patients with Whipple's disease, as well as in sewage water.…”

“…The prevalence of neurologic manifestations (ie, clinically evident signs of CNS infection) in Whipple's disease has been estimated to be in the range of 6% to 43% of cases [6], with symptoms generally appearing later in the course of the disease. In particular, they may occur as a sign of disease relapse (in patients with systemic disease who were previously treated with antibiotics that did not cross the blood-brain barrier) [9•].…”

“…Polymerase chain reaction (PCR), which amplifies the highly conserved 16S ribosomal RNA unit of the bacteria, is an important diagnostic addition to light microscopy, because it has a higher sensitivity and specificity than light microscopy, depending on the PCR primer used [31][32][33]. In addition to the small bowel, PAS-positive macrophages have been found in multiple other tissue types, including lymph nodes, pericardium, lung, liver, and muscle; these tissues can be sources for histologic and additional examinations [6]. CNS Whipple's disease can also be diagnosed through the biopsy of intracranial lesions, which characteristically consist of granulomas with PAS-positive foamy macrophages, surrounded by reactive astrocytes [29,34].…”

Trabalho de consenso de força-tarefa da WFSBP sobre marcadores biológicos das demências: contribuição da análise do LCR e do sangue para o diagnóstico precoce e diferencial das demências

“…Entre os pacientes com acometimento do SNC, até 71% dos casos desenvolvem alterações cognitivas (Louis et al, 1996). Os sinais da infecção sistêmica incluem problemas gastrointestinais, perda de peso e artrite, e os sintomas da infecção do SNC incluem também paralisia supranuclear, alteração do nível de consciência e distúrbios dos movimentos (Louis, 2003). As alterações do LCR incluem pleocitose leve, com macrófagos PAS-positivos em aproximadamente 30% dos casos -as chamadas células de Sieracki.…”