Whipple's disease: rare disorder and late diagnosis

Abstract

SUMMARYWhipple'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/m 2 ). 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/m 2 ). 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.

Whipple`s disease - clinical spectrum and diagnostic approach (with a contribution of eight cases)

“…None of our patients presented with neurological symptoms similarly to recently reported cases (3,13) or other extraintestinal manifestations. Kidneys are rarely affected.…”

“…One describes reduced mucosal folds with uneven and rough surface and numerous small whitish-yel-lowish fields and plaques which alternate with an eroded, erythematous or easily vulnerable mucosa in the postbulbar area (2,3,7). The histological examination of the intestinal material reveals foamy macrophages containing PAS-positive cytoplasmic inclusions, large lipid drops in lamina propria of the flat damaged intestinal villi as well as dilated lymph nodes (13). We established similar endoscopic and morphological alterations in our patients.…”

“…The epidemiological investigations based on a comparative analysis for the last decades of the XX century demonstrate a significant increase of the relative share of the females affected by the disease (2). A chronic asymptomatic carriership was proved through examination of the saliva and fecal samples from healthy individuals (3,7,13). A feco-oral, orooral and air-drop infection transmission route was suggested (8,9).…”

“…The neurological manifestations can resemble almost any neurological conditions (3,7,13). There are cognitive and psychotic abnormalities.…”

“…Next follows the stage of the gastrointestinal symptoms such as diarrhoea, weight loss and weakness, and last comes the generalised stage consisting of anaemia, steatorrhoea, fever, polyserositis (including pericarditis, pleural effusions and ascites), hypoalbuminaemia, malabsorption as well as neurological and/or cardiovascular manifestations (3,13).…”