Hereditary haemochromatosis is a very common genetic defect in the Caucasian population, with an autosomal recessive inheritance. It is characterized by inappropriately increased iron absorption from the duodenum and upper intestine, with consequent deposition in various parenchymal organs, notably the liver, pancreas, joints, heart, pituitary gland and skin, with resultant end-organ damage. Clinical features may be non-specific and include lethargy and malaise, or reflect target organ damage and present with abnormal liver tests, cirrhosis, diabetes mellitus, arthropathy, cardiomyopathy, skin pigmentation and gonadal failure. Early recognition and treatment (phlebotomy) is essential to prevent irreversible complications such as cirrhosis and hepatocellular carcinoma. The history of this condition dates as far back as 1865, but in the last decade great advances have been made. We discuss the genetics, pathophysiology, clinical features, diagnosis and management of a condition that could easily present to a generalist, and is an important diagnosis not to miss.
Gastroenterological evaluation identifies significant, potentially treatable diagnoses in patients who develop chronic GI symptoms following pelvic radiotherapy. Some findings are incidental and unrelated to previous cancer treatment. Radiation-induced GI symptoms have historically been considered "untreatable." We report the first data to show that structured gastroenterological assessment has the potential to improve outcome by identifying diagnoses and facilitating focused treatment.
In order to examine the effect of Helicobacter pylori colonization on the gastric mucus microclimate, antral juxtamucosal pH was measured in 47 patients attending as out patients for upper gastrointestinal endoscopy. The mean pH in 28 patients negative for H. pylori was 6.40 +/- 0.24 compared to 6.88 +/- 0.16 in 19 patients who were positive (P < 0.0001). In six of seven patients who agreed to a second study, H. pylori was eradicated and the mean pH fell from 6.81 +/- 0.17 to 6.08 +/- 0.16 (P < 0.001). The pH remained high in the one patient who remained positive (6.8 and 7.0). This study provides the first in vivo evidence that H. pylori can increase the antral juxtamucosal pH and suggests that ammonia production by the organism is capable of altering gastric mucus microclimate to impair the normal negative feedback controlling gastrin release. This observation may explain the coexistence of relative hypergastrinemia and H. pylori colonization in duodenal ulcer patients.
Chronic lymphocytic gastritis (CLG) is a recently described histopathological entity characterised by the presence of lymphocytes in the surface and foveolar epithelium of the gastric mucosa. Previous accounts'-have paid attention to both the endoscopic and histological features of the condition but the presenting features and clinical correlates of the pathology have not been clearly characterised. In this report we describe a new clinical association which is supported by a second case with similar features of protein loss. This is also the first report of CLG in which lymphocytic infiltration has also been shown in the duodenal mucosa.
Case 1The patient, D M, a 34 year old solicitor, presented to his general practitioner with slow recovery from a flu like illness. Although his own symptoms were few his wife volunteered her concern over his lifestyle of frenetic activity, running and cycling over 10 miles per day, eating very little and having lost 7 kg in weight over the previous six months. On examination he was clearly wasted and thin, weight 50 kg with absent body fat, muscle wasting and mild ankle oedema. He was thought to be suffering from anorexia nervosa and was referred for a hospital opinion.
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