Familial Amyloidosis with Polyneuropathy was first recognized in Portugal and reported by Andrade in 1952. The disease is rare, but clustering of the patients has been reported from Portugal, Japan and northern Sweden. The gastrointestinal involvement in the Swedish form of the disease was studied in this investigation. In a study of 52 patients on their first admission 47 displayed gastrointestinal symptoms in the form of severely altered bowel habits (intractable diarrhea and/or constipation). Steatorrhea was found in 30 out of 52 patients (58%) and an impaired d-xylose absorption in 26 out of 50 patients (52%). The steatorrhea was correlated to the degree of peripheral polyneuropathy as expressed by EMG-score. No relation could be established between steatorrhea or impaired d-xylose absorption with oral lactose and glucose tolerance tests indicating an intact entero- cyte function. A follow-up study comprising 21 patients demonstrated that all patients ultimately developed gastrointestinal symptoms and that the prevalence of diarrhea became higher with the duration of the disease. In this study steatorrhea became more frequent and was significantly related to the duration. Bile acid breath test, fecal fat determination and d-xylose tests were performed on 13 patients. Six patients with results indicating an increased bile acid deconjugation in the small bowel were treated with antibiotics for one week, after which the results had returned to normal in all. Four out of five patients with impaired d-xylose absorption before treatment also returned to normal after antibiotics. Three patients with diarrhea 3-7 times daily were considerably relieved after treatment both concerning general well-being and bowel movements. The results give strong evidence that bacterial overgrowth of the small intestine is important in causing gastrointestinal dysfunction in this disease. A histopathological study of the small intestinal mucosa on 27 patients showed that 84 percent were amyloid positive. The degree of amyloid infiltration did not correlate to the symptomatic state, steatorrhea or impaired d-xylose absorption. The surface ultrastructure was normal in all of 21 investigated cases. Radiographical and endoscopi cal studies were performed on 43 patients altogether. Evidence of gastric stasis was found in 7 out of 37 patients investigated by means of gastric x-ray and in 7 out of 28 patients at gastroscopy. No characteristic radiological appearance of the disease could be shown in the small intestine, the colon or the gall bladder. Nine patients who were operated on with the construction of an enterostomy were reported. The diversion of the fecal stream when the patients had diarrhea and were incontinent meant a considerable relief. / <p>S. 1-46: sammanfattning, s. 47-128: 6 uppsatser</p> / digitalisering@umu

This diploma thesis deals with laboratory functional diagnostics of malabsorption syndromes. Especially the functional diagnosis of lactose intolerance. The golden standard for the functional diagnosis of lactose intolerance is the breath test. The aim of the study was to determine the prevalence of lactose intolerance (LI) using a lactose breath test when consuming a dose of 20 g of lactose in patients with gastrointestinal symptoms and in volunteers who do not show gastrointestinal problems. Part of the research was also to examine the symptoms that led the individual to see a doctor and undergo a lactose breath test. The method consisted in the evaluation of the results of breath tests, which were performed on patients and volunteers in the gastroenterological laboratory of the 1st Medical Faculty of Charles University and the General Hospital. A questionnaire was given to everyone to evaluate the symptoms of LI and the phenomena leading to malabsorption. Lactose intolerance was confirmed in 92 % of patients and 79 % of volunteers. The most reported symptoms in the patient sample were typical gastrointestinal LI-related problems: gastric and intestinal problems after milk consumption (85 % of patients), gastric and intestinal problems after consumption of dairy products (85 % of patients),...