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

Abstract

PURPOSE : Whipple’s disease (WD) is a rare systemic infection caused by the bacterium Tropheryma whipplei. Since the clinical features of the disease are non-specific, diagnosis still remains a challenge. The aim of the study is to analyse the clinical presentation and diagnostic approach in patients with WD. MATERIAL AND METHODS : Eight patients, six females and two males at an average age of 59 years (range, 46-79 years) were diagnosed with WD from January, 2012 to May, 2013 in the Clinic of Hepatogastroenterology, St. Marina University Hospital of Varna. Laboratory tests, endoscopic, radiologic, ultrasound and histomorphological examinations were performed. RESULTS : The main symptoms are abdominal pain, chronic diarrhoea and meteorism. Only one female patient presents with clinical signs of malabsorbtion, such as weight loss, anasarca, ascites, pleural effusions and anaemia. There are no extraintestinal manifestations. Tests for Chlamydia trachomatis, tuberculosis and Clostridium difficile are negative. Stool examination does not show any parasitic or bacterial infection. Coeliac disease (CD) serological tests are negative, except in one female with co-existing gluten enteropathy since childhood onwards, where Crohn colitis is diagnosed, too. Endoscopy demonstrates mild to moderate atrophy of the intestinal mucosa. Histological examination establishes mild villous atrophy, lymphoplasmatic infiltration and lymph vessel dilation. All the biopsies show PAS-positive inclusions in the macrophages. Doxycycline therapy exerts a favourable effect on the clinical symptoms in all the patients. CONCLUSION : Whipple’s disease (WD) is a rare systemic disease that is commonly late or falsely diagnosed. The prognosis of non-treated patients is poor. The disease should be considered in any patients with prolonged gastrointestinal symptoms such as unexplained abdominal pain, diarrhoea and features of malabsorption syndrome. The appropriate antibiotic treatment achieves remission and improves the patient's quality of life. Keywords: Whipple disease, diagnosis, histology, malabsorption, treatment