ABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Aged , Hypertension, Pulmonary/diagnosis , Hypertension, Pulmonary/etiology , Whipple Disease/complications , Whipple Disease/diagnosis , Whipple Disease/drug therapy , Europe , Tropheryma , Anti-Bacterial Agents/therapeutic useABSTRACT
Descrevemos um caso de doença de Whipple diagnosticada em paciente com síndrome diarreica crônica, emagrecimento intenso, pesquisa de DNA da Tropheryma whipplei positiva em fluido biológico e resposta excelente ao tratamento antibiótico.
A case of Whipple's disease diagnosed in a patient with chronic diarrhea syndrome, intense weight loss, positive DNA searching for Tropheryma whipplei, and excellent clinical response to antibiotic therapy is described.
Subject(s)
Humans , Male , Whipple Disease/diagnosis , Whipple Disease/drug therapy , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic useABSTRACT
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).
Subject(s)
Female , Humans , Middle Aged , Carcinoma/diagnosis , Tropheryma/isolation & purification , Whipple Disease/diagnosis , Anti-Bacterial Agents/therapeutic use , Ceftriaxone/therapeutic use , Diagnosis, Differential , Whipple Disease/drug therapyABSTRACT
Whipple's disease is a rare multi-organ infectious disease caused by Tropheryma whipplei. It is fatal without treatment. We report on a 40-year old Afro-Jamaican man who presented with a six-month history of weight loss and diarrhoea. Investigations revealed iron deficiency anaemia and hypoalbuminaemia. Upper gastrointestinal endoscopy revealed white patchy lesions in the duodenum. The duodenal biopsy showed broadening and thickening of the villi by a dense infiltrate of foamy histiocytes within the lamina propria and focally extending into the attached submucosa. Periodic Acid-Schiff stains were positive. Electron microscopy was confirmatory and polymerase chain reaction testing conclusively identified the organisms as T whipplei. Antibiotic treatment resulted in resolution of symptoms. Although the diagnosis of Whipple's disease is difficult, increased awareness should lead to an increase in reported cases with the improvements in diagnostic capabilities.
La enfermedad deWhipple es una rara enfermedad infecciosa multiorgánica causada por el Tropheryma whipplei. Es fatal sin tratamiento. Reportamos un hombre afro-jamaicano de 40 años que se presentó con una historia de seis meses de pérdida de peso y diarrea. Las investigaciones revelaron hipoalbuminemia y anemia ferropénica. La endoscopia gastrointestinal superior reveló lesiones blancas irregulares en el duodeno. La biopsia duodenal mostró la ampliación y engrosamiento de las vellosidades por un denso infiltrado de histiocitos espumosos dentro de la lámina propia, que se extienden hasta la submucosa adjunta. Las tinciones con ácido peryódico de Schiff fueron positivas. La microscopia electrónica fue confirmatoria y la prueba de la reacción en cadena de la polimerasa, identificó los organismos como T whipplei de forma concluyente El tratamiento antibiótico trajo como resultado la resolución de los síntomas. Si bien el diagnóstico de la enfermedad de Whipple es difícil, un aumento de la conciencia debe conducir a un aumento en los reportes de casos divulgados que reflejan un mejoramiento en la capacidad para hacer el diagnóstico.
Subject(s)
Humans , Male , Adult , Whipple Disease/diagnosis , Biopsy , Ceftriaxone/administration & dosage , Colonoscopy , Whipple Disease/drug therapy , Anti-Bacterial Agents/administration & dosageABSTRACT
Whipple's disease is a rare systemic infectious disorder caused by the bacterium Tropheryma whipplei. We report the case of a 61-year-old male patient who presented to emergency room complaining of asthenia, arthralgia, anorexia, articular complaints intermittent diarrhea, and a 10-kg weight loss in one year. Laboratory tests showed the following results: Hb = 7.5 g/dL, albumin = 2.5 mg/dL, weight = 50.3 kg (BMI 17.4 kg/m²). Upper gastrointestinal endoscopy revealed areas of focal enanthema in the duodenum. An endoscopic biopsy was suggestive of Whipple's disease. Diagnosis was confirmed based on a positive serum polymerase chain reaction. Treatment was initiated with intravenous ceftriaxone followed by oral trimethoprim-sulfamethoxazole. After one year of treatment, the patient was asymptomatic, with Hb = 13.5 g/dL, serum albumin = 5.3 mg/dL, and weight = 70 kg (BMI 24.2 kg/m²). Whipple's disease should be considered a differential diagnosis in patients with prolonged constitutional and/or gastrointestinal symptoms. Appropriate antibiotic treatment improves the quality of life of patients.
Doença de Whipple é uma rara infecção sistêmica causada pelo Tropheryma whipplei. Caracteriza-se por fase prolongada de sintomas inespecíficos, levando longo período até o seu diagnóstico. Sem tratamento, pode ser grave e fatal, mas com antibioticoterapia tem ótima resposta clínica e laboratorial. Relatamos o caso de paciente masculino, 61 anos, internado por astenia, anorexia, diarréia intermitente e perda de 10 kg em um ano. Apresentava-se com hemoglobina (Hb) 7,5 g/dL, albumina de 2,5 mg/dL, peso 50,3 kg (IMC 17,4). Endoscopia digestiva alta com áreas de enantema focal da mucosa duodenal e biópsia compatível com doença de Whipple. O diagnóstico foi confirmado com PCR sérica positiva, sendo instituído tratamento com ceftriaxone seguido de sulfametoxazol-trimetropim. Após um ano de tratamento, encontrava-se assintomático, com Hb 13,5 g/dL, albumina sérica de 5,3 mg/dL e peso de 70 kg. Doença de Whipple deve fazer parte da lista de diagnósticos diferenciais em pacientes com sintomas constitucionais e/ou com queixas gastrointestinais com evolução prolongada. O tratamento antibiótico pode curar a infecção, recuperando a qualidade de vida do paciente.
Subject(s)
Humans , Male , Middle Aged , Rare Diseases/diagnosis , Whipple Disease/diagnosis , Anti-Bacterial Agents/therapeutic use , Ceftriaxone/therapeutic use , Delayed Diagnosis , Rare Diseases/drug therapy , Treatment Outcome , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use , Whipple Disease/drug therapySubject(s)
Humans , Male , Whipple Disease/drug therapy , Intestine, Small/pathology , Lymph Nodes/pathologyABSTRACT
A doença de Whipple é uma doença infecciosa causada pelo bacilo Tropheryma whippelii, caracterizada pela sua apresentação inespecífica, o que dificulta o diagnóstico que, realizado através de biópsia da mucosa do jejuno e ¡leo. Os autores relatam um caso de paciente com doença de Whippie que foi submetido a inúmeros procedimentos até que se chegasse a um diagnóstico definitivo.
Subject(s)
Humans , Male , Middle Aged , Whipple Disease/diagnosis , Whipple Disease/drug therapy , Penicillins/therapeutic use , Biopsy , Chloramphenicol/therapeutic use , Trimethoprim, Sulfamethoxazole Drug Combination , Duodenum , Erythromycin/therapeutic use , Tetracycline/therapeutic useABSTRACT
Whipple disease (WD) is a rare systemic infection caused by Tropheryma whippelii. Neurological involvement has been recognised in 40 percent of patients, either as initial manifestations or during the course of the disease. We report on a 45 years-old man with WD with initial, persistent and irresistible episodes of daytime somnolence. The patient was HLA-DQB1*0602 positive (genetic marker for narcolepsy). WD diagnosis was suspected on clinical and MRI basis and confirmed by histological and immunohistochemical study of duodenal biopsy. Forty months later all clinical features improved, narcoleptic-like episodes disappeared and cerebral MRI and CSF normalised. Longitudinal neurophysiological studies revealed persistent sleep pattern abnormalities with sleep fragmentation, paucity of slow wave and of REM sleep. The disruption of the hypocretin circuitry in the hypothalamic - diencephalic region triggered by the infection was the probable cause of the hypersomnia and narcopleptic symptoms. WD should be added to the list of causes of secondary hypersomnia.
A doença de Whipple (DW) é infecção sistémica rara causada pelo Tropheryma whippelii. Cerca de 40 por cento dos doentes apresentam envolvimento neurológico, seja como manifestação inicial da doença, seja durante o seu curso. Apresentamos o caso de um homem de 45 anos com doença de DW com episódios iniciais, persistentes e irresistíveis de sonolência durante a actividade diurna. O doente era positivo para o HLA-DQB1*0602 (marcador genético de narcolepsia). A suspeita do diagnóstico de DW foi levantada com base na clínica e RM e confirmada por estudo imunocitoquímico do material de biópsia jejunal. Quarenta meses mais tarde, todas as manifestações clínicas melhoraram, os episódios narcolépticos desapareceram, e a RM e o LCR normalizaram. Os estudos neurofisiológicos seriados do sono revelaram alterações persistentes caracterizadas por fragmentação do sono, escassez de ondas lentas e sono REM. A perturbação do circuito da hipocretina na região hipotálamo-diencefálica, causada pela infecção, foi a causa provável da hipersónia num doente geneticamente susceptível. A DW deve ser incluída nas causas de hipersónia secundária.
Subject(s)
Humans , Male , Middle Aged , Narcolepsy/etiology , Whipple Disease/complications , Anti-Bacterial Agents/therapeutic use , Anti-Infective Agents/therapeutic use , Ceftriaxone/therapeutic use , Magnetic Resonance Imaging , Narcolepsy/diagnosis , Narcolepsy/drug therapy , Polysomnography , Streptomycin/therapeutic use , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use , Whipple Disease/diagnosis , Whipple Disease/drug therapyABSTRACT
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.
Subject(s)
Humans , Male , Middle Aged , Tropheryma , Whipple Disease/diagnosis , Whipple Disease/drug therapyABSTRACT
A doença de Whipple (DW) é distúrbio multissistêmico raro causado pelo bacilo Tropheryma whipplei. O envolvimento do sistema nervoso central é um aspecto clássico da doença, sendo observado em 20 a 40% dos pacientes. Relatamos o caso de homem de 62 anos com DW que desenvolveu manifestações neurológicas durante sua evolução, com o objetivo de discutir os sinais e sintomas mais comuns e destacar os critérios diagnósticos e propostas terapêuticas mais recentes.
Subject(s)
Humans , Male , Middle Aged , Brain Diseases/etiology , Whipple Disease/complications , Biopsy , Brain Diseases/diagnosis , Diarrhea/etiology , Magnetic Resonance Imaging , Polyneuropathies/diagnosis , Polyneuropathies/microbiology , Tomography, X-Ray Computed , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use , Whipple Disease/diagnosis , Whipple Disease/drug therapySubject(s)
Humans , Male , Adult , Whipple Disease/diagnosis , Whipple Disease/pathology , Whipple Disease/drug therapyABSTRACT
Se presenta un caso de enfermedad de Whipple confirmado, en una mujer de 61 años, por estudio histológico de biopsias escalonadas de duodeno y yeyuno.Se señala la etiología bacteriana y el carácter sistémico de la afección, que es producida por la Tropheryma whippelii, que es un bacilo Gram positivo con forma de hoz. Se describe el cuadro clínico que es esencialmente polimorfo pero dentro del cual destacan la diarrea crónica de tipo alto, con caracteres de síndrome de malabsorción y marcado compromiso progresivo del estado general; las artralgias y poliartritis y la fiebre. La enfermedad responde favorablemente a diversos antibióticos que deben administrarse en forma prolongada para intentar reducir las recurrencias que son muy frecuentes y que comprometen muchas veces al sistema nervioso central
Subject(s)
Humans , Female , Middle Aged , Gram-Positive Rods/pathogenicity , Whipple Disease/diagnosis , Anti-Bacterial Agents/therapeutic use , Biopsy , Diarrhea/etiology , Duodenum/pathology , Gram-Positive Rods/immunology , Jejunum/pathology , Joint Diseases/etiology , Malabsorption Syndromes/etiology , Signs and Symptoms , Whipple Disease/drug therapy , Whipple Disease/etiology , Whipple Disease/pathologyABSTRACT
Peripheral blood mononuclear cells (monocytes) from patients with Whipple's disease in long-term remission were tested for their ability to handle intracellular microorganisms. Phagocytosis and lysis of Candida tropicalis by monocytes of patients (n=12) andcontrols (n=8) were quantified after 30 min of incubation. Phagocytosis was similar in both groups but intracellular Killing of Candida tropicalis was significativily lower in patients (p<0.001). We concluded that our study showed an in vitro defect in the intracellular Killing function of monocytes in subjects in remission many years after diagnosis of Whipple's disease. The defective function did not seem to be related to relapse or to the susceptibility to other infections.