Gasteroenterology

201. You are asked by a GP to review a 16-year-old girl who appears tremulous with some evidence of ataxia. She also has dysarthria, which has developed over time. Otherwise she appears relatively well. You carry out some screening tests: ALT is elevated, serum ceruloplasmin is low and there is increased urinary copper excretion. Which diagnosis fits best with this clinical picture? Abuse of alcohol Wilsons disease Your answer Menkes disease Drug abuse Haemochromatosis Wilsons disease has a prevalence of 1 in 30,000, with an equal sex distribution. The onset of symptoms has been described in patients between 3 and 40 years of age. There may an acute presentation, so-called fulminant Wilsons disease, with a hepatitic picture, malaise, anorexia, nausea and jaundice. Alternatively, Wilsons disease may present a more chronic picture, with neurological symptoms (as in this case), symptoms of chronic cirrhosis or, occasionally, with psychiatric disorders such as depression or obsessivecompulsive disorder. Diagnosis is based on abnormal liver function testing, increased urinary copper excretion and decreased serum ceruloplasmin. Liver biopsy at an early stage may reveal focal necrosis and hepatic steatosis. Late biopsy reveals cirrhosis. The liver copper content is usually more than five times the upper limit of normal. Treatment is with penicillamine, which acts as a copper chelator.

202. A 42-year-old woman visits the inflammatory bowel disease clinic with her two sons who are four and seven years old. She was diagnosed with Crohns disease during her early twenties. Which of the following best describes a feature of the epidemiology of Crohns disease? There is a proven link with tuberculous disease The disease is slightly commoner in males Ashkenazic Jews have a higher risk than Sephardic Jews Your answer 20% of sufferers have one or more relatives with the disease The coefficient of heritability of Crohns disease is low Crohns disease has a lower incidence in non-White races, people of Jewish origin are more prone to inflammatory bowel disease than non-Jews and Ashkenazic Jews are at higher risk than Sephardic Jews. The disease is slightly commoner in females (M:F ratio 1:1.2), and tends to present at a younger age (mean age at presentation is 26 years in females and 34

years in males). Some 610% of patients with inflammatory bowel disease have one or more affected relatives. The coefficient of heritability of Crohns disease is high based on studies of monozygotic twins. An association with mycobacteria remains unproven, with inconsistent isolation of mycobacteria from sufferers. The link was first postulated because Johnes disease, which occurs in cattle and sheep, is caused by Mycobacterium paratuberculosis and is associated with terminal ileal inflammatory bowel disease. In the past, measles virus has also been suggested as a cause, although again this has never been proven.

203. A 62-year-old woman complains of abdominal pain, nausea, anorexia and weight loss of four months duration. The pain is dull, boring and radiates through to her back. Examination shows mild epigastric tenderness. What is the most likely diagnosis? ZollingerEllison syndrome Gastric carcinoma Carcinoma of the pancreas Peptic ulcer disease Cholangiocarcinoma

Your answer

The symptoms are most likely due to carcinoma of the body or tail of the pancreas. Unlike carcinoma of the head of pancreas, obstructive jaundice does not occur.

204. A 58-year-old woman with dyspepsia was referred for endoscopy. Which of the following is not a risk factor for gastric adenocarcinoma? Aspirin use Your answer Helicobacter pylori Low dietary vitamin C Partial gastrectomy Pernicious anaemia

The risk factors for gastric cancer are: Helicobacter pylori (relative risk 3); low dietary vitamin C; family history; high dietary salt; racial origin (Japan > UK > Sweden); gastric surgery, increased with biliary diversion to the stomach; pernicious anaemia; smoking.Aspirin reduces the risk of oesophageal, gastric and colorectal carcinoma (relative risk in aspirin users 0.40.6), probably by inhibition of cyclooxygenase-2 (COX-2) and several other malignancy-related pathways. The same is true of sulindac and probably the selective COX-2 inhibitors (eg rofecoxib, celecoxib).

205. A 71-year-old is found to have a mobile, non-tender mass in the right iliac fossa. His bowel habit is normal; he is apyrexial and has a haemoglobin of 14.9 g/dl with a normal white cell count. What is the most likely diagnosis? Caecal volvulus Villous adenoma in the caecum Actinomycosis Varicocele Femoral hernia

Your answer

A flat villous adenoma is unlikely to be palpable, even in a thin patient. A varicocele would be palpable in the scrotum. A femoral hernia would produce an inguinal swelling. A clinically significant caecal volvulus would produce signs of obstruction. Actinomycosis is caused by a gram positive, filamentous bacterium which survives on little or no oxygen and is a cause of multiple abscesses. These most commonly occur in the abdomen and at the angle of the jaw.

206. A 44-year-old man, with a long history of alcohol abuse, was admitted with abdominal pain, weight loss of 10 kg in the previous six months and diarrhoea. Investigations showed a speckled pancreatic calcification on plain abdominal Xray and an albumin level of 23 g/l. What is the most useful diagnostic test? CT scan of the pancreas Faecal elastase Your answer Lactulose hydrogen breath test Oral glucose tolerance test

Serum folate He has evidence of chronic alcohol-related pancreatitis and malabsorption. The faecal elastase test is the most straightforward and sensitive of the pancreatic function tests and will demonstrate pancreatic insufficiency. The other options include a pancreolauryl test and absorption of a test meal (eg Lundh meal); however, these are rarely carried out. Treatment includes vitamin supplementation and pancreatic enzyme supplementation, and the avoidance of alcohol. The other causes of chronic pancreatitis with insufficiency are gallstones, drugs (eg azathioprine), viruses (eg coxsackievirus, mumps), idiopathy, hereditary pancreatitis and occult pancreatic malignancy.

207. A 24-year-old woman presents as an emergency to her GP with acute vomiting which began some 34 h after attending an afternoon meeting. Cream cakes were served during the coffee break. Which of the following organisms is the most likely cause of this acute attack of vomiting? Bacillus cereus Yersinia enterocolitica Campylobacter sp Salmonella sp Staphylococcus aureus Your answer Staph. aureus makes up 25% of cases of bacterial food poisoning, multiplying rapidly in foods kept at room temperature that are rich in carbohydrates and salt (eg dairy products, cold meats or mayonnaise). They produce a heat-stable endotoxin that causes nausea and vomiting and diarrhoea 16 h after the ingestion of contaminated food. Fever is uncommon and supportive treatment only is usually required. Bacillus cereus infection is associated with slow-cooked food and re-heated rice (a common problem in take-away food). The bacterium produces an emetic toxin that leads to vomiting in 15 h or diarrhoea some 816 h later. Yersinia infection results in diarrhoea some 410 days after contact and presents with bloody diarrhoea. Campylobacter infection has an incubation period of 37 days and results in flu-like symptoms, abdominal pain and diarrhoea. Salmonella infection normally leads to an acute gastroenteritis picture between 8 and 48 h after the ingestion of infected food.

208. A 58-year-old man complains of tiredness, fever, weight loss, arthralgia, and diarrhoea. Jejunal biopsy reveals flattened mucosa that contains macrophages positive for periodic acid-Schiff (PAS). What is the most likely diagnosis? Coeliacs disease Tuberculosis Tropical sprue Parasitic infection Whipples disease

Your answer

Whipples disease is characterised by malabsorption, lymphadenopathy, arthritis, cardiac involvement, ocular symptoms, and neurological sequelae that may include dementia, opthalmoplegia, and myoclonus. The illness is uncommon, usually presents between 30 and 60 years of age, and is occurs more often in men. Characteristic features of the disease include flattening of villae and the presence of macrophages positive for periodic acidSchiff (PAS). The causative organism is Tropheryma whipplei, which is identified by polymerase chain reaction (PCR). Standard treatment is co-trimoxazole therapy given for a period of six months.

209. Enteral nutrition is preferred rather than parenteral nutrition because? No disturbances in liver function More likely to achieve nutritional targets Patient choice Reduces the risk of bacterial translocation Less invasive

Your answer

The evidence that one modality is better or more efficient than another, in humans, is lacking.

210. A 26-year-old woman complains of an itchy rash, tiredness, abdominal pain and intermittent diarrhoea with a 10-kg weight loss over six months. She is pale and has a rash on her elbows and knees. She has a microcytic, hypochromic anaemia and low ferritin and folate levels, a low serum albumin and normal free T4, but a slightly raised TSH level. Which of the following investigations is most appropriate?

Colonoscopy Bone marrow examination Jejunal biopsy Small-bowel follow-through Schilling test

Your answer

This woman has symptoms, signs and the biochemical picture of malabsorption. Her itchy rash suggests dermatitis herpetiformis and this, combined with her malabsorption, points to coeliac disease. A jejunal biopsy is the best investigation to confirm the diagnosis. She should be treated with a gluten-free diet and her iron and folate stores replenished. She also has subclinical hypothyroidism and her thyroid antibodies should be checked. Insulindependent diabetes mellitus, hypothyroidism, chronic liver disease and fibrosing alveolitis are all more commonly seen in patients with coeliac disease.

211. A 62-year-old woman is sent to the clinic for review. Her medical history of note includes ulcerative colitis and prolonged use of an oral antifungal for recurrent nail-bed infections. On examination in the clinic she is jaundiced and has two-finger breadth hepatomegaly. Biochemistry results indicate an ALT of 410 IU/l (535), bilirubin of 260 mol/l (122), and a non-specific increase in globulin levels. Autoantibody screen reveals anti-LKM1 antibodies. What diagnosis fits best with this clinical picture? Drug-induced hepatitis Autoimmune hepatitis Primary biliary cirrhosis Primary sclerosing cholangitis Gallstones Your answer

Drugs that can result in this clinical picture include methyldopa, isoniazid, ketoconazole (an antifungal) and nitrofurantoin. Drug-induced chronic hepatitis is commoner in women, presents with jaundice and hepatomegaly with deranged transaminases and elevated bilirubin and is associated with anti-LKM1 autoantibodies. Liver function may improve after drug withdrawal but relapses are possible. Other causes of chronic hepatitis include hepatitis B and C, autoimmune hepatitis, 1-antitrypsin deficiency, Wilsons disease and inflammatory bowel disease.

212. A 72-year-old patient has hepatocellular carcinoma. Of the following, which one is the most significant feature in the epidemiology of this disease?

It has a high incidence in the West The most common aetiological factor is alcoholic cirrhosis Primary biliary cirrhosis is associated with a higher incidence of hepatocellular carcinoma than haemochromatosis Over 80% of tumours are surgically resectable The risk of hepatocellular carcinoma in patients with hepatitis C virus infection is higher than in those with hepatitis B virus infection

Your answer

The development of hepatocellular carcinoma (HCC) is related to the integration of viral DNA into the genome of the host hepatocyte. The risk of HCC in hepatitis C virus (HCV) infection is as high, or higher than, in cases of hepatitis B virus (HBV) infection despite no viral integration. HCC has a high incidence in East Africa and South-East Asia. Because of its multicentricity, bilobar involvement, portal vein invasion and lymphatic metastases, only 1520% of cases are resectable. Some 30% of patients with cirrhosis due to haemochromatosis will develop primary HCC. Males are affected more than females, which may account for the high incidence seen in haemochromatosis and low incidence in primary biliary cirrhosis.

213. A 26-year-old man presented having recently returned from Bangladesh. He reported jaundice and itching. His viral hepatitis serology showed active hepatitis E infection. Which of the following is true of hepatitis E? Chronic hepatitis rarely occurs Cholestasis is not a feature Co-infection with hepatitis B is required for pathogenicity Transmission is by the faeco-oral route Your answer The risk of fulminant hepatitis in pregnancy is 1% Hepatitis E follows a similar course to Hep A. It is faeco-orally transmitted and causes an acute hepatitis often accompanied by, or followed by, cholestasis. The main risk is in pregnancy where 1020% of affected women are said to develop fulminant hepatitis; however, this may be an overestimate. Management is supportive.

It is hepatitis D that requires co-infection with Hep B to cause inflammation.

214. You are carrying out a colonoscopy on a 42-year-old man with a family history of colon cancer. You find a number of polyps, which are biopsied. What features of colonic adenomas are most associated with an increased risk of malignant change? Less than 1 cm in size Polyp is sessile or flat Your answer Tubular architecture Single polyp only found Polyp is pedunculated Polyps greater than 1.5 cm, which are sessile or flat, are associated with a higher risk of malignant change. Histology demonstrating severe dysplasia, predominantly villous architecture or squamous metaplasia, is also associated with a higher risk of malignant change. Family history is an extremely important risk factor for colon cancer. Familial adenomatous polyposis (FAP) is the best recognised syndrome predisposing to colorectal cancer, but in practice it is only related to around 1% of all colorectal cancers. Hereditary non-polyposis cancer (HNPCC) arises from germ-line mutations in any one of five DNA mismatch repair genes. Colorectal cancer is the second commonest cause of cancer death in the UK, with an all-age prevalence rate of 53.5/100,000 for men and 36.7/100,000 for women. The average age at diagnosis is 6065 years.

215. A 42-year-old woman is referred to the liver clinic by her GP. She has a raised ALT at 160 IU/l (535). Her past history of note includes obesity and gestational diabetes. One admission with cholecystitis occurred 2 years ago. What diagnosis fits best with this clinical picture? Autoimmune hepatitis Primary biliary cirrhosis Gallstones Cirrhosis Non-alcoholic steatohepatitis

Your answer

Steatohepatitis occurs most commonly in patients with features of insulin resistance such as obesity, dyslipidaemia and type-2 diabetes mellitus. The hallmark of the condition on liver biopsy is the association of inflammation with fatty infiltration of the liver. This may progress to fibrotic change and eventually to cirrhosis. Weight loss is known to improve liver biopsy appearance, scored according to the NASH score. The glitazones (rosiglitazone and pioglitazone), which are known to reduce insulin resistance, are both currently undergoing clinical trials for the treatment of NASH. Pilot studies for both agents have shown positive effects on biopsy scores, probably related to transfer of fat from the viscera to the subcutaneous regions. Prognosis depends on the ability to lose weight and thus reduce intrahepatic fat stores, but significant numbers of patients are thought to progress eventually to cirrhosis.

216. A 41-year-old man presents with a 5-year history of recurrent episodes of bloody diarrhoea. Despite regular treatment with adequate doses of sulfasalazine, he has had several exacerbations of his disease and has required several weeks of steroids to control the flare-ups. What is the best next line of treatment for him? Methotrexate Azathioprine Your answer Ciclosporin Cyclophosphamide Subtotal colectomy This patient has ulcerative colitis that is not controlled with sulfasalazine or steroids. The treatment of choice now is azathioprine. This would reduce the requirement of steroids as well as maintaining the patient in remission. Methotrexate is useful in steroid-dependent Crohns disease but not in ulcerative colitis. Cyclophosphamide has no role in the management of either Crohns disease or ulcerative colitis. Ciclosporin is useful in ulcerative colitis but it does not reduce the relapse rate and is not effective as maintenance therapy. In acute disease, subtotal colectomy with end ileostomy and preservation of the rectum is the operation of choice where medical treatment has failed or if complications occur (eg haemorrhage, perforation or toxic dilatation).

217. A 47-year-old diabetic man is referred from the infertility clinic. He has occasional palpitations and takes diuretics for dyspnoea. He is tanned, has hepatomegaly and a normal full blood count and liver biochemistry. What is the most appropriate investigation?

MRI of the liver Serum alpha-fetoprotein level Liver biopsy Cardiac echocardiography Serum iron studies

Your answer

The combination of diabetes mellitus, probable hypogonadism, hepatomegaly and skin pigmentation suggests haemachromatosis. This is an autosomal-recessive disorder and is more commonly seen in middle-aged men. Excess iron is deposited in the endocrine glands, heart and skin. Gonadal function is impaired. Patients develop arrhythmias and heart failure. Serum iron and serum ferritin levels are raised. The total iron-binding capacity is reduced and transferrin saturation is complete (>60%). Patients may develop cirrhosis and 30% of patients who develop cirrhosis can develop hepatocellular carcinoma.

218. A 68-year-old woman returns for her third visit in 3 months to casualty, complaining of extremely bad, dull epigastric pain radiating to her back. Her haemoglobin is 10.4 g/dl and her alkaline phosphatase is elevated. Which is the most appropriate management plan? Discharge home for a trial of proton-pump inhibitor therapy Arrange an abdominal ultrasound scan Arrange an upper GI endoscopy in the first instance Check her serum ferritin level Check her CA 19.9 level

Your answer

The symptoms and raised alkaline phosphatase are suggestive of pancreatic carcinoma. The pain is often partially relieved on sitting forward. Bile duct obstruction with jaundice occurs late. A mass may be palpable where the carcinoma occurs in the head of the pancreas, but this is only rarely the case if the tumour is in the body or tail. Ultrasound scanning of the abdomen is the initial investigation of choice. CA 19.9 (CA, cancer antigen) may be useful as a marker of disease progression in pancreatic carcinoma, but cannot be used for diagnosis as there is a high false-positive rate. More recent EORTC (European Organization for Research in Cancer Therapy) data givesa 5-year survival of 30% incases of resectable carcinoma hence,appropriate assessment for operability is mandatory in an otherwise fit patient. The 5-year survival rate for pancreatic carcinoma is appalling at 2%, yet symptoms of biliary obstruction may at least be relieved by stent placement for a time.

219. A 76-year-old man is admitted with jaundice and weight loss. He has no history of abdominal pain or fevers. What is the most likely diagnosis?

Chronic pancreatitis Choledochoduodenal fistula Gallstone obstruction Mirizzis syndrome Pancreatic adenocarcinoma

Your answer

Painless jaundice and weight loss are indicative of pancreatic carcinoma. Chronic pancreatitis almost always causes severe abdominal pain, as do the other diagnoses listed. Mirizzis syndrome is impaction of a stone in the cystic duct. Choledochoduodenal fistulas cause pain, peritonism and often an ileus.

220. An 18-month-old boy is suspected of having Hirschsprungs disease. Which of the following investigations would provide a definitive diagnosis? Barium enema Rectal manometry Colonoscopy Rectal biopsy Proctoscopy

Your answer

The definitive diagnosis of Hirschsprungs disease is made by rectal biopsy. This would show:

Absence of ganglion cells in Meissners and myenteric plexuses Hypertrophy of the nerve trunks Increased staining for acetylcholinesterase: this enzyme is elevated in Hirschsprungs disease and would be evident in a full-thickness biopsy on frozen section

All the other investigations would be only suggestive of Hirschsprungs disease.

221. A 17-year-old young man presents with poor growth, weight loss and diarrhoea. His duodenal biopsy confirmed subtotal villous atropy. Coeliac disease is associated with which of the following? Pyoderma gangrenosum Molluscum contagiosum Perianal fistulas Recurrent mouth ulcers

Your answer

Erythema marginatum Recurrent mouth ulcers, diarrhoea and failure to thrive are the clinical manifestations of coeliac disease. The lesion is very similar to that seen in dermatitis herpetiformis and the skin rash responds to a gluten-free diet or to dapsone. Pyoderma gangrenosum is associated with leukaemia, vasculitides and inflammatory bowel disease.

222. A 76-year-old man presents with progressive dysphagia and weight loss. Endoscopy shows a lower third oesophageal malignancy. Which of the following has a recognised association with oesophageal adenocarcinoma? Crohns disease Partial gastrectomy

Oesophageal achalasia Your answer Duodenal ulceration Ulcerative colitis Aetiological factors for oesophageal adenocarcinoma are alcohol, tobacco, prolonged severe gastro-oesophageal reflux, caustic strictures, Barretts oesophagus, diet, coeliac disease, tylosis. Eradication of Helicobacter pylori has been suggested to increase the risk of these tumours, but this remains controversial.

223. A 29-year-old secretary is admitted to hospital with a haematemesis. She has been drinking 'several' cans of cider for more than ten years. On examination she is deeply jaundiced but alert, with stigmata of chronic liver disease. Blood pressure (BP) 95/50, pulse 130. After appropriate resuscitation, her BP is now 125/70 mmHg, pulse 90/min. She is still vomiting small amounts of fresh blood. What would be your next course of action? Give IV nitrates

IV glypressin Your answer IV somatostatin Endoscopy and banding Sengstaken/Blakemore tube The priorities of management are: Resuscitate Stabilise/stop bleeding glypressin > octreotide Endoscope and banding of varices or sclerotherapy Sengstaken tube is reserved for failure to respond to the above.

224. A patient presents with inflammatory bowel disease. 5-ASA would be most appropriate in treating which condition? Acute therapy for ulcerative colitis

Maintenance therapy for ulcerative colitis Your answer Acute therapy for Crohns Disease Maintenance therapy for Crohns disease Prevention of colon cancer The greatest benefit is seen with maintenance in UC (70% vs 30% placebo). It is less valuable for active disease 60% UC, 45% Crohns and maintenance in Crohns 40%.

225. A 65-year-old woman was referred with dysphagia. Which of the following would be most useful in making a diagnosis? Iron deficiency anaemia Left hemiparesis

Cogwheel tremor

Raynauds phenomenon Your answer Cerebellar ataxia

Dysphagia can occur due to the presence of PlummerVinsons syndrome, which develops as a result of chronic iron deficiency anaemia. However, anaemia is a poor indicator of the underlying cause. Intermittent diplopia occurs with myasthenia gravis and muscle fasciculations occur with motor neurone disease, and both may lead to dysphagia. Parkinsons disease is associated with bulbar neuropathy but not dysphagia. The same is true of cerebrovascular accidents. Raynauds phenomenon and dysphagia may be a manifestation of the CREST syndrome (calcinosis cutis, Raynauds phenomenon, [o]esophageal hypomobility, sclerodactyly, telangiectasia) or progressive systemic sclerosis, both of which are strongly associated with dysphagia.

226. A 33-year-old nursery nurse is admitted with abdominal pain, diarrhoea and severe malnutrition with a BMI of 14. Hb 10g/dl, WBC 12.5 109/l, platelets 675 109/l, albumin 30 g/l, calcium 1.9 mmol/l, phosphate 0.2 mmol/l, Na 130 mmol/l, K 2.9 mmol/l. As it is the weekend she given an 'off-the-shelf' standard bag of Total Parenteral Nutrition (TPN) giving her 2200 cals and 9 g of nitrogen. On Monday she develops severe congestive cardiac failure. This might have been prevented by pre-treating her before the start of TPN with: IV K IV Na IV calcium IV phosphate

Your answer IV vitamins This is the refeeding syndrome, caused by phosphate deficiency. Refeeding with high concentrations of glucose without restoring phosphate levels results in further falls in plasma concentrations of phosphate, driven into cells by insulin. This problem is exacerbated by any other cation deficiency and requires cautious replacement as the refeeding syndrome has a significant mortality rate.

227. A 21-year-old man with a family history of familial adenomatous polyposis was referred for postoperative follow-up. Which of the following is true of FAP?

Duodenal malignancy is an important cause of death Your answer Gastric adenomas are rare Rectal surveillance is not required post-surgery Selective COX-2 inhibition increases the risk of malignant transformation Small-bowel hamartomas may result in chronic abdominal pain Germ-line mutations of the APC gene result in FAP. This results in multiple small- and large-bowel adenomas. The risk of colorectal carcinoma is stated as 90100%, with a median age of developing such tumours of 30 years. The earliest cancers have been detected in the people in their early teens. As such, prophylactic colectomy is advised at the age of 16. Aspirin, sulindac and selective COX-2 inhibitors reduce the risk of further polyp formation; however, surveillance of the rectal remnant is advised.The second most common cause of death is duodenal adenoma with malignant transformation. Again, surveillance is mandatory.Gardners syndrome, another APC gene mutation, is the FAP genotype with osteomas of the jaw, skull and long bones. Other soft tissue tumours also occur. 228. A 19-year-old man is referred with tremors, difficulty in speaking and forgetfulness. He is pale, mildly jaundiced, and has palmar erythema and telangiectasias on his anterior chest wall with a postural tremor and dysarthria. What is the most appropriate investigation? CT scan of the brain

Serum alpha-fetoprotein assay MRI of the posterior cranial fossa

Urinary copper level Your answer Serum iron studies This patient has a combination of liver disease and neurological signs. The diagnosis is Wilsons disease. This is characterised by abnormal copper metabolism. It is an autosomalrecessive disorder and occurs worldwide. The basic problem is the failure to excrete copper. The urinary copper level is raised and the serum copper and caeruloplasmin levels are usually reduced. Diagnosis depends on measuring the amount of copper in the liver. A characteristic feature is the presence of corneal KayserFleischer rings, due to copper deposition in Descemets membrane. Long-term treatment with penicillamine is effective in chelating

229. A 48-year-old man presents to the gastroenterology clinic. He has been suffering from heartburn for some time and has noticed occasional regurgitation of his morning toast. Endoscopy reveals a gastric-looking mucosa spreading up into the oesophagus, with areas of columnar metaplasia on biopsy. What diagnosis fits best with this clinical picture? Gastro-oesophageal reflux disease Erosive oesophagitis Gastritis Hiatus hernia

Barretts oesophagus Your answer

Areas of columnar metaplasia within the oesophagus are pathognomonic of the condition. The male to female ratio of affected patients is 4:1, with a mean age at onset of 40 years. In patients undergoing endoscopy the prevalence of Barretts oesophagus is said to be around 10%. The

condition may be asymptomatic, other patients may present with heartburn or chest pain. Physical findings range from a normal examination to epigastric tenderness. Metaplasia of the oesophageal mucosa is thought to be secondary to chronic gastro-oesophageal reflux. Therapy with high-dose, proton-pump inhibitors is the mainstay of drug therapy. Screening is recommended as progression to oesophageal adenocarcinoma occurs in some patients; screening intervals are set according to local protocol. The risk of adenocarcinoma is some 3050 times the risk in patients without Barretts oesophagus, this corresponds to around 500 cases per 100,000 patients with Barretts oesophagus per year.

230. A 28-year-old woman attends for review after a recent sigmoidoscopy for inflammatory bowel disease. This suggested the possibility of Crohn's disease. She is currently taking sulfasalazine and a tapering dose of oral steroids. There are, however, still some problems with residual diarrhoea. What is the most appropriate intervention in this case? Codeine phosphate Loperamide

Colestyramine Your answer Increased steroid therapy Increased sulfasalazine Diarrhoea associated with long-standing Crohns disease may be due to bile salt malabsorption and colestyramine is the most appropriate therapy in this case. Increased bile acids in the colon reduce absorption of water and electrolytes and at higher concentrations induce colonic secretion and increased motility. Diagnosis of bile acid malabsorption is made using the SeHCAT test, where radiolabelled bile acid analogue is administered and percentage retention at 7 days is calculated (less than 19% retention is abnormal). The best results are seen with colestyramine when retention is less than 5%.

231. A 67-year-old man with a history of atrial fibrillation and cardiovascular disease is brought in by his relatives with acute abdominal pain and vomiting. On examination he is drowsy and looks unwell. His blood pressure is 105/60 mmHg, pulse is 110 bpm and he is in atrial fibrillation. His abdomen is generally tender. Initial blood tests reveal an amylase of 500 IU/l (25170), neutrophilia and renal failure with a creatinine concentration of 350 mol/l (60110) and a urea of 12.5 mmol/l (2.57.5). Further questioning reveals that he has complained of intermittent abdominal pain after dinner over the past few months. What diagnosis fits best with this clinical picture? Acute pancreatitis Chronic pancreatitis Chronic mesenteric ischaemia

Acute-on-chronic mesenteric ischaemia Your answer Mesenteric vasculitis

Acute mesenteric ischaemia is a cause of elevated amylase unrelated to pancreatitis. The classical presentation is with acute abdominal pain and vomiting. Arterial embolus related to atrial fibrillation is the commonest cause, with occlusion of the superior mesenteric artery. Abdominal tenderness is general, with distension and absence of bowel sounds. Mortality approaches 90% and is related to multi-organ failure. Survivors have a high chance of developing short bowel syndrome, the severity of which is related to the size of bowel resection. There is also evidence of chronic small bowel ischaemia, indicated by his abdominal pain after meals over the past few months. Clinical signs of bowel ischaemia may be absent in the chronic phase due to the development of an adequate collateral circulation. Bruits can occasionally be heard over the abdomen, but are also found in many normal individuals.

232. A 42-year-old maths teacher has returned to the UK after living in Trinidad for 15 years. She has a 3-year history of intermittent diarrhoea suggestive of steatorrhoea, weight loss of 6 kg, cramps in her calves and marked lethargy. Investigations: Hb 8.7 g/dl, mean corpuscular volume (MCV) 77 fl, WBC 9.8 109/l, albumin 29 g/l, corrected calcium 1.9 mmol/l. Endomysial and gliadin antibodies are negative. A jejunal biopsy shows abnormal villi with an inflammatory cell infiltrate of lymphocytes, plasma cells and eosinophils. What is the most likely diagnosis?

Coeliac disease Crohns disease

Tropical sprue Your answer Giardia lamblia infection Whipples disease All the options can cause an abnormal jejunal biopsy, but it is the combination of time in the tropics, malabsorption and the resulting deficits plus the acute inflammatory epithelial infiltrate that makes tropical sprue the diagnosis.

233. A patient presents with acute fulminant hepatic failure.Which virus infection is most likely responsible for this? Cytomegalovirus Hepatitis G infection

Hepatitis A infection Your answer Hepatitis C infection HIV Acute (fulminant) liver failure is caused by hepatitis viruses A, B and E, paracetamol selfpoisoning other drugs and some herbal remedies. Prognosis depends on clotting, pH and creatinine. Hepatitis A infection on a background of hepatitis C (but not B) has very poor prognosis.

234. A 76-year-old man was found to have an elevated urinary 5-hydroxyindoleacetic acid and liver ultrasound revealed the presence of multiple lesions. Which of the following is true of carcinoid tumours?

They most commonly involve the colon Presentation only occurs after metastasis

Fibrosis of the heart valves is recognised Your answer 50% of patients die within 2 months of diagnosis Cyproheptadine is not useful to control the diarrhoea The carcinoid syndrome implies spread from the primary site. However, the tumours may present with appendicitis or a pellagra syndrome (dermatitis, dementia and diarrhoea due to niacin deficiency). The tumours are usually slow-growing, with a 3-year survival rate of 50%. A number of agents are available to treat the diarrhoea, of which octreotide remains the commonest.

235. A 26-year-old woman is referred by her GP. She has recently returned from her honeymoon in Africa. While there she ate food bought from a number of roadside stalls. There was a history of abdominal cramps, bloating and diarrhoea. Examination of three stool specimens revealed cysts in two out of the three specimens. The condition responded to a course of metronidazole. What is the most likely clinical diagnosis in this case? Salmonella infection Typhoid fever

Giardiasis Your answer Cryptosporidium Tapeworm infection Giardiasis is caused by the protozoal parasite Giardia lamblia and is transmitted by poor hygiene. Some 70% of infected patients have one or more intestinal symptoms (diarrhoea, flatulence, cramps, bloating, nausea), but fever occurs in less than 20% of cases. Malaise, anorexia, chronic diarrhoea, malabsorption and weight loss may occur in chronic sufferers. Between 20 and 25% of patients may be asymptomatic. Three or more stool specimens

yield a result with 90% sensitivity. Treatment is with a one-week course of metronidazole. Giardia infection may occur more commonly in families with X-linked agammaglobulinaemia, and in sexually active homosexual men.

236. A 10-year-old Egyptian boy who has recently immigrated to the UK is found to have hepatitis C infection. He is unsure as to how he could have acquired this disease. His mother died of jaundice 10 years ago. He was treated in Egypt 3 years ago for a bladder infection and the passage of blood in his urine. What is the most likely method of transmission in this case? Contact with the local population Vertical transmission Sexual transmission Contaminated drinking water

Intramuscular injections Your answer In this case, the most probable cause is parenteral antimony treatment for schistosomiasis. The rate of hepatitis C infection in Egypt is estimated to be as high as 20% due to this means of communication of the virus. Vertical transmission can occur but is very rare.

237. A 54-year-old man was seen in the gastroenterology clinic with longstanding ulcerative colitis. His GP noticed abnormal LFTs and he has been sufferering recently from weight loss. Ulcerative colitis in this man may be associated with which of the following? Small-bowel lymphoma

Biliary tract carcinoma Your answer Seropositive arthritis

Primary biliary cirrhosis Non-specific urethritis Ulcerative colitis is associated with erythema nodosum, pyoderma ganrenosum, uveitis, scleritis, episcleritis and primary sclerosing cholangitis. Primary sclerosing cholangitis itself then confers a high risk for the development of cholangiocarcinoma.

238. A 56-year-old female retired primary school teacher gives a 5-month history of pruritus and lethargy. On examination she is jaundiced and has a palpable liver and just palpable spleen. Twenty-four hours after admission she has a haematemesis and drops her haemoglobin (Hb) to 8.8g/dl. Upper gastrointestinal (GI) endoscopy reveals oesophageal varices. The most likely diagnosis is? Chronic active hepatitis Haemochromatosis Alcoholic cirrhosis

Primary biliary cirrhosis Your answer Cryptogenic cirrhosis The history of pruritus and the finding of jaundice as well as the relatively early complication of variceal bleeding firmly place the lesion within the biliary system.

239. A 35-year-old man was referred with sudden-onset dysphagia, initially to liquids and then, 2 months later, to solids. His weight has been stable. In the last week he has woken up coughing during the night. An upper gastrointestinal endoscopy performed at the onset of his symptoms was reported as being normal. What is the most useful diagnostic test? 24-hour oesophageal pH study Barium follow-through [13C]urea breath test

Oesophageal pull-through manometry Your answer Repeat upper gastrointestinal endoscopy

The history is that of achalasia an abrupt-onset dysphagia, often without weight loss. Liquids often cause more of a problem than solids. He is rather too young to have an oesophageal carcinoma. Achalasia, failure of relaxation of the lower oesophageal stricture, is a rare cause of dysphagia. The sphincter is often hypertensive. The oesophagus dilates and loses the normal pattern of peristaltic waves these are often replaced by simultaneous contraction of the oesophageal body or loss of all activity. Its important to recognise symptoms of regurgitation and aspiration a night-time cough or recurrent sore throats in the morning may point to this. Investigation consists of upper gastrointestinal (GI) endoscopy (to rule out pseudoachalasia due to a carcinoma), a barium swallow showing the rats-tail appearance of the lower sphincter and pull-through manometry. The latter is the diagnostic test and demonstrates the hypertensive sphincter and motility disorder.

240. Which one of the following clinical findings is MOST characteristic of pseudomembranous colitis? Bloody diarrhoea, abdominal pain and tenderness The detection of Clostridium difficile bacilli in the stools isdiagnostic The severe form of the disease is often associated with gentamycin therapy

Nosocomial outbreaks Your answer Intravenous vancomycin for two weeks is an effective treatment

Diarrhoea is common in patients taking antibiotics. Aminoglycosides in general are not known to cause the disorder. It is important to differentiate diarrhoea due to Clostridium difficile (which may be life threatening), from less serious self-limited diarrhoea induced by antibiotics. The symptoms vary from infrequent loose motions to severe watery diarrhoea with toxic megacolon. Bloody diarrhoea and abdominal tenderness are not prominent features of pseudomembranous colitis and their presence suggests an alternative diagnosis. The sigmoidoscopy appearance of pseudomembranous colitis is diagnostic but not all patients demonstrate the lesions. As C. difficile may be present in the faeces of up to 20% of healthy carriers, the most specific test to determine if C. difficile is the cause of diarrhoea is the detection of toxins in faeces. Treatment consists of discontinuing the putative offending antibiotic agent and administering metronidazole, oral rather than intravenous vancomycin or cholestyramine.

241. A 52-year-old man, with a long history of inflammatory bowel disease presents to his GP with abnormal liver function tests. He has a raised alkaline phosphatase level but no symptoms of liver disease. Which of the following options is the best set of investigations to confirm the diagnosis? Ultrasound scan and anti-mitochondrial antibodies Ultrasound scan and liver biopsy Liver biopsy and anti-mitochondrial antibodies

ERCP and liver biopsy Your answer CT abdomen The diagnosis here is primary sclerosing cholangitis (PSC), 75% of PSC patients also have ulcerative colitis. Some 70% of patients are men with an average age at onset of 40 years. Symptoms may include itching and intermittent jaundice and acute attacks of cholangitis. There is intra- and extrahepatic duct stricture and dilatation (this appears as beading on ERCP (endoscopic retrograde cholangiopancreatography), and liver biopsy shows inflammation of the intrahepatic biliary radicals with considerable associated scar tissue, often described as onion skin. PSC is slowly progressive and ultimately leads to cirrhosis. Cholangiocarcinoma occurs in up to 20% of cases. Liver transplantation is the only proven treatment. Anti-mitochondrial antibodies are, of course, associated with primary biliary cirrhosis.

242. A 40-year-old man with coeliac disease complains of a recurrence of his symptoms. What is the most likely diagnosis?

Intestinal lymphoma Your answer Intestinal lymphangiectasia Bacterial overgrowth Crohns disease Giardia infection Intestinal lymphoma. Few patients with coeliac disease who are on a gluten-free diet have a recurrence of symptoms. Besides lymphoma, such patients may also develop carcinoma of the small bowel or oesophagus.

243. A 57-year-old man presents with a persistent history of heartburn. He keeps on returning to his GP and eventually she refers him to you. A trial of low-dose PPI and lifestyle measures has failed to alleviate his symptoms. Screening bloods are unremarkable. What is the most appropriate management? Ask the GP to discontinue PPI and advise lifestyle measures Continue low-dose PPI, long-term Give intermittent high-dose PPI for symptom relief Offer counselling for the non-sinister nature of his symptoms

Do an upper GI endoscopy Your answer This man falls into the age range where serious pathology is a possibility and needs excluding. The persistent nature of his re-presentation to the GP is also suggestive of underlying pathology. The crossover point where pathology becomes much more a statistically significant possibility than functional disease occurs at around 45 years of age.

Under 45 years, a trial of a proton-pump inhibitor (PPI) would not be unreasonable. In the over 50-year age group, Barretts oesophagus, oesophageal carcinoma, stomach carcinoma and peptic ulcer disease all require exclusion via endoscopy. (However, a neoplasm is less likely with normal blood tests and with no history of dysphagia.)

244. A 65-year-old woman with scleroderma and Reynauds phenomenon complains of weight loss and has been referred for an opinion. Gastrointestinal associations of progressive systemic sclerosis include which of the following?

Oesophageal stricture Your answer Primary sclerosing cholangitis Abnormal exocrine pancreatic function Diverticula of the large bowel Small-bowel visceral myopathy Systemic sclerosis results in vascular damage, fibrosis and an activated immune system. Gut involvement includes oesophageal strictures, malabsorption, bacterial overgrowth, pseudo-obstruction and anal incontinence. The CREST (calcinosis cutis, Raynauds phenomenon, [o]esophageal hypomobility, sclerodactyly, and telangiectasia) variant is linked with primary biliary cirrhosis but not sclerosing cholangitis.

245. After the diagnosis of small bowel Crohns disease, a patient asks for therapy that is as effective as a course of corticosteroids, but with a better adverse event profile. What would you recommend? High dose delayed release mesalazine High dose balsalazide Smoking cessation

Defined formula diet Your answer Whole protein liquid diet Corticosteroids have an 80% short-term remission rate, % amino-salicylate (ASA) preparations approximately 55%, sole-source liquid diets 60% on an intention-to-treat analysis 80% in able to be tolerated.

246. A 29-year-old patient has been complaining of a 6-month history of intermittent diarrhoea and weight loss. What is the most appropriate investigation to rule out coeliac disease? Antireticulin antibodies Anti-enterocyte antibodies Antigluten antibodies

Anti-endomysial antibodies Your answer Small bowel biopsy There are both false-negative and false-positives in coeliac screening. Antireticulin is too non-specific, anti-enterocyte is a marker for T-cell lymphoma, antigluten lacks specificity but has a role in IgA deficiency seen in 1 in 700. Anti-endomysial is the most sensitive, but as it is an IgA antibody it causes false-negatives in IgA-deficient patients. In this scenario the IgG antigliaden antibody is the most reliable. Small bowel biopsy is still the gold standard, but is not suitable as a screen. 247. A 55-year-old Vietnamese businessman now living in the UK presents with several months of diarrhoea, anorexia and weight loss. On examination you notice he has some non-specific abdominal tenderness and distension. He has a little increased pigmentation and you notice glossitis on examining his oropharynx. He has megaloblastic anaemia, vitamin B12 and folate deficiency, steatorrhoea and an abnormal xylose absorption test. What is the most likely diagnosis?

Tropical sprue Your answer Ulcerative colitis Coeliac disease Small bowel lymphoma Chronic pancreatitis The clue here is that he is a Vietnamese expatriate. Tropical sprue can present several months after people native to tropical areas emigrate to a temperate climate. South America, Vietnam and India are common areas where the disease originates. The exact aetiology is unknown, but it is thought to be infective. The disease presents with malabsorption and symptoms of small-bowel pathology. Up to 50% of cases have megaloblastic anaemia with associated vitamin B12 and folate deficiency, and steatorrhoea is common. The commonest treatment is 46 weeks of treatment with ampicillin or tetracycline.