Diagnosis of Whipple's disease using molecular biology techniques.

The diagnosis of Whipple's disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended.This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations,particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively.

Diagnóstico de la enfermedad de Whipple por técnicas de biología molecular. Aportación de dos casos / Diagnosis of Whipple's disease using molecular biology techniques

El diagnóstico de la enfermedad de Whipple (EW) se basa en la existencia de una clínica compatible y en el hallazgo de gránulos PAS +, diastasa resistente, en los macrófagos del intestino delgado. Si hay sospecha de enfermedad pero no evidencia histológica o manifestaciones extraintestinales aisladas se precisa el estudio mediante PCR específicas de distintas secuencias del genoma de T. whippleii en tejidos y fluidos biológicos. Se presentan dos casos, uno con diarrea en el que se sospechó la enfermedad tras ileoscopia y otro con manifestaciones multisistémicas, sobre todo adenopatías abdominales, torácicas y periféricas. En ambos, el estudio molecular del intestino delgado y de una linfadenopatía retroperitoneal respectivamente confirmó el diagnóstico(AU)

The diagnosis of Whipple’s disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended. This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations, particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively(AU)