Enfermedad de whipple e hipertensión pulmonar reversible / Whipple's disease and reversible pulmonary hypertension

Resumen La enfermedad de Whipple es una enfermedad multisistémica crónica, causada por la bacteria Tropherima whipplei. Se han descripto aproximadamente 1200 casos en la literatura. La incidencia mundial se estima en 9.8 casos por millón de personas. Los datos provenientes de Sudamérica y Europa muestran que afecta a varones de mediana edad. Se cree que los factores inmunológicos del huésped son los que influyen en el curso de la infección y no el genotipo del agente. Dado que las características clínicas no suelen ser específicas y el espectro de manifestaciones en órganos individuales puede ser subestimado, el diagnóstico sigue siendo muy difícil. Presentamos un caso confirmado por histopatología con compromiso multisistémico. Consideramos importante su difusión dados los escasos casos documentados en Sudamérica y la relevancia de tener presente la sospecha diagnóstica para el abordaje terapéutico precoz que mejora el pronóstico de esta rara enfermedad.

Abstract Whipple's disease is a chronic mutisystem disease caused by the bacteria Tropherima whipplei. Approximately 1200 cases have been described in the literature. The worldwide incidence is estimated at 9.8 cases per million people. Data from South America and Europe show that it affects middle-aged males. It is believed that host immunological factors rather than agent genotypic traits influence the course of the infection. Since the clinical characteristics are usually nonspecific and the wide spectrum of manifestations in individual organs may be underestimated, the diagnosis remains challenging. We present a case with multisystem compromise confirmed by histopathology. We consider its publication important given the few cases documented in South America and the relevance of bearing in mind the importance of an early diagnosis for a prompt treatment that improves the prognosis of this rare disease.

Whipple's disease: a fatal mimic

Whipple's Disease, a rare diagnosis caused by the slow-growing bacterium Tropheryma whipplei, most often presents with the classically described signs of malabsorption due to gastrointestinal colonization. However, it can also have signs and symptoms that clinically overlap with rheumatic diseases, potentially resulting in misdiagnosis. Furthermore, treatment with modern potent biologic immunosuppressive agents and classic disease modifying anti-rheumatic drugs (DMARDs) can lead to serious exacerbation of undiagnosed infections. We present the case of a middle-aged woman with long term complaints of arthalgias, who was diagnosed with seronegative rheumatoid arthritis and subsequently treated for almost 7 years with such immunosuppressive therapies. The patient's disease course included chronic diarrhea that abruptly intensified and culminated in fatal hypovolemic shock/sepsis. A diagnosis of WD was made by autopsy examination, wherein several organ systems were found to be heavily involved by Tropheryma whipplei organisms, and their identification was confirmed with histochemical and molecular evaluation. Notably, most bacterial organisms were located deeply in the submucosa/muscularis of affected organs, a practical reminder to practicing pathologists that challenges the classic histopathologic description of Whipple disease as an infiltration of predominantly lamina propria, and the potential for sampling bias in typically superficial endoscopic biopsies during routine procedures.

Tumoural form of Whipple's disease simulating carcinomatosis

Whipple's disease is a rare disease caused by the actinomycete bacteria Tropheryma whipplei, which cause intestinal infection. The most common symptoms are chronic diarrhoea, weight loss, abdominal pain, arthritis and neurological abnormalities, which can be fatal. This paper reports a case of a 57-year-old Brazilian woman with diarrhoea, vomiting, abdominal pain, appetite loss, intermittent fever, malaise, weight loss and malnutrition. Migratory polyarthralgia and recurrent visual scotomas preceded the symptoms. The retroperitoneal pseudotumour formation finding was associated with prolonged wasting syndrome, which did not respond to usual therapies, thus leading to the investigation of carcinomatosis disease. After laparotomy, biopsy and histochemical study of the lesions with negative results for malignancy, we proceeded to the investigation of Whipple's disease, which was then confirmed. The patient improved clinically and started gaining weight after using ceftriaxone (IV).

Doença de Whipple: relato de caso ­ recentes avanços no diagnóstico e tratamento / Whipple's disease: case report - recent advances in diagnosis and treatment

Os autores relatam um caso de Doença de Whipple em paciente do sexo masculino, de 55 anos, que apresentava predominância de sintomas gastrintestinais e importante comprometimento do estado geral, caquexia e anemia. O diagnóstico foi confirmado por exame histopatológico. Após o tratamento com antibióticos, observou-se excelente evolução clínica. Salientam-se a importância e a atualidade do diagnóstico, visto que, apesar de doença pouco frequente, é potencialmente fatal e responde drasticamente ao tratamento com antibióticos.

Detection of Tropheryma whipplei DNA in Joint Fluid of Patients with Arthritis by Polymerase Chain Reaction / 감염과화학요법

BACKGROUND: Whipple's disease is a chronic systemic infection caused by Tropheryma whipplei which chiefly involves gastrointestinal tract and joints. Because arthritis is often the first sign of Whipple's disease, Whipple's disease may be misdiagnosed in the early stage of illness as non-infectious inflammatory arthritis. Rheumatoid arthritis may also be caused by infectious agents, including T. whipplei. To elucidate the relationship between T. whipplei infection and various arthritis, we examined T. whipplei DNA in Korean patients by polymerase chain reaction (PCR). MATERIALS AND METHODS: With two T. whipplei-specific primers dervied from the partial heat shock protein 65 gene sequence, PCR was performed on 56 joint fluid samples:33 samples from RA patients, 18 samples from OA patients, and 5 samples from patients with other unflammatory arthritis. In addition, the same method was applied to find out the DNA of T. whipplei in 8 normal adults' saliva and 22 patients' gastric juice. Due to the difficulty in obtaining the reference strain of T. whipplei, the PCR was performed without the positive control. RESULTS: The PCR method did not reveal T. whipplei in joint fluid from 56 patients with arthropathies, 8 samples from saliva, and 22 samples from gastric juice. CONCLUSION: Though technical errors can not be excluded as a cause of absence of a positive case, our results suggest that T. whipplei infection may not be a common cause of various arthritis in Korea; T. whipplei may be associated with inflammatory arthritis indirectly by immune-mediated mechanism rather than by direct joint invasion. The examination of specimens other than joint fluid could be helpful and the study of larger number of patient is highly desirable.

Detection of Tropheryma whipplei DNA in Joint Fluid of Patients with Arthritis by Polymerase Chain Reaction / 감염과화학요법

BACKGROUND: Whipple's disease is a chronic systemic infection caused by Tropheryma whipplei which chiefly involves gastrointestinal tract and joints. Because arthritis is often the first sign of Whipple's disease, Whipple's disease may be misdiagnosed in the early stage of illness as non-infectious inflammatory arthritis. Rheumatoid arthritis may also be caused by infectious agents, including T. whipplei. To elucidate the relationship between T. whipplei infection and various arthritis, we examined T. whipplei DNA in Korean patients by polymerase chain reaction (PCR). MATERIALS AND METHODS: With two T. whipplei-specific primers dervied from the partial heat shock protein 65 gene sequence, PCR was performed on 56 joint fluid samples:33 samples from RA patients, 18 samples from OA patients, and 5 samples from patients with other unflammatory arthritis. In addition, the same method was applied to find out the DNA of T. whipplei in 8 normal adults' saliva and 22 patients' gastric juice. Due to the difficulty in obtaining the reference strain of T. whipplei, the PCR was performed without the positive control. RESULTS: The PCR method did not reveal T. whipplei in joint fluid from 56 patients with arthropathies, 8 samples from saliva, and 22 samples from gastric juice. CONCLUSION: Though technical errors can not be excluded as a cause of absence of a positive case, our results suggest that T. whipplei infection may not be a common cause of various arthritis in Korea; T. whipplei may be associated with inflammatory arthritis indirectly by immune-mediated mechanism rather than by direct joint invasion. The examination of specimens other than joint fluid could be helpful and the study of larger number of patient is highly desirable.