Considerations for Non-Responsive Coeliac Disease

Coeliac disease, also known as gluten-sensitive enteropathy, is associated with specific human leukocyte antigen subtypes. The hallmark of this disease is the disappearance of clinical features and intestinal histologic findings upon discontinuing gluten in the diet. However, in cases where patients who were previously responding well to a gluten-free diet stop responding, the possibility of intestinal T-cell lymphoma, a complication of coeliac disease, should be strongly considered.

Other conditions, such as tropical sprue, dermatitis herpetiformis, collagenous sprue, and refractory sprue, may also present with similar symptoms but have different responses to gluten restriction. Tropical sprue does not respond to gluten restriction, while dermatitis herpetiformis is a skin disease associated with coeliac disease and does not cause failure of response to a gluten-free diet. Collagenous sprue is characterized by the presence of a collagen layer beneath the basement membrane and does not respond to a gluten-free diet. Refractory sprue, on the other hand, is a subset of coeliac disease where patients do not respond to gluten restriction and may require glucocorticoids or restriction of soy products.

In conclusion, when a patient with coeliac disease stops responding to a gluten-free diet, it is important to consider the possibility of intestinal T-cell lymphoma and differentiate it from other conditions that may present with similar symptoms but have different responses to gluten restriction.

Risk Factors and Protective Measures for Gastric Cancer

Gastric cancer is a prevalent form of cancer worldwide, but its incidence is decreasing. Several factors are associated with an increased risk of developing gastric cancer, including pernicious anaemia, blood group A, smoking, and a diet high in nitrate and salt. However, a diet rich in citrus fruits and leafy green vegetables can decrease the risk. Helicobacter pylori infection is a significant risk factor, with a relative risk of 5.9. However, this bacterium is not a risk factor for cancer of the gastric cardia, which is increasing and associated with long-term gastro-oesophageal reflux disease, smoking, and obesity. Non-steroidal anti-inflammatory drugs (NSAIDs) may have a protective effect in preventing gastric cancer. Blood group B and a higher education/social class are protective factors. A diet rich in fresh fruits and vegetables is also likely to be protective.

The patient in this scenario presents with symptoms that suggest a blockage in their bowel and potential signs of cancer, such as a loss of appetite and anemia. Therefore, the most important initial investigation is a colonoscopy. A colonic transit study is not appropriate as it is used for slow colonic transit and this patient has symptoms of obstruction. An abdominal X-ray can be used to investigate faecal impaction and rectal masses, but a colonoscopy should be used first-line for detailed information about colonic masses. While a CT abdomen may be needed, a colonoscopy should be performed as the initial investigation for intestinal luminal obstruction and potential malignancy. Checking thyroid function may be useful if there is suspicion of a secondary cause of constipation, but in this case, the patient’s symptoms suggest colonic obstruction and cancer, making a thyroid function test an inappropriate initial investigation.

Differential Diagnosis for Dysphagia: Achalasia, Acute Coronary Syndrome, Diffuse Oesophageal Spasm, Oesophageal Carcinoma, and Pill-Induced Oesophagitis

Dysphagia, or difficulty swallowing, can be caused by various conditions. Among the possible diagnoses, achalasia is the most suitable response for a patient who presents with dysphagia to both solids and liquids with regurgitation of food. Achalasia is a rare motility disorder that affects the oesophagus, resulting in the failure of the lower oesophageal sphincter to relax. The patient may also have a normal ECG and no atherosclerotic risk factors, ruling out acute coronary syndrome. Diffuse oesophageal spasm, which causes intermittent and poorly coordinated contractions of the distal oesophagus, is less likely as the patient has continuous symptoms. Oesophageal carcinoma, which typically presents with progressive dysphagia from solids to liquids, is also unlikely as the patient lacks risk factors for the disease. Pill-induced oesophagitis, on the other hand, should be suspected in patients with heartburn or dysphagia and a history of ingestion of medications known to cause oesophageal injury. In summary, the differential diagnosis for dysphagia includes achalasia, acute coronary syndrome, diffuse oesophageal spasm, oesophageal carcinoma, and pill-induced oesophagitis.

The patient is likely suffering from chronic liver disease and portal hypertension, possibly caused by a hepatitis B infection. This is common in regions such as sub-Saharan Africa and East Asia, where up to 10% of adults may be chronically infected. Acute paracetamol overdose can also cause liver failure, but it does not typically present with haematemesis. Mushroom poisoning can be deadly and cause liver damage, but it is not a cause of chronic liver disease. Hepatitis C is another cause of liver cirrhosis, but it is more common in other regions such as Egypt. Haemochromatosis is a rare autosomal recessive disease that can present with cirrhosis and other symptoms, but it is less likely in this case.

The patient’s symptoms and lab results suggest that they have acute pancreatitis, which is commonly seen in individuals with alcoholism or gallstone disease. This condition is characterized by severe epigastric pain that may radiate to the back, and an increase in pancreatic enzymes like amylase within 6-12 hours of onset. Lipase levels can also aid in diagnosis, as they rise earlier and last longer than amylase levels. Acute mesenteric ischemia, perforated peptic ulcer, pyelonephritis, and small bowel obstruction are less likely diagnoses based on the patient’s symptoms and medical history.

Non-Alcoholic Fatty Liver Disease (NAFLD) as a Cause of Liver Enzyme Abnormalities

Non-alcoholic fatty liver disease (NAFLD) is a common cause of liver enzyme abnormalities, characterized by the accumulation of fat in the liver leading to inflammation. It is often associated with obesity, hypertension, dyslipidemia, and insulin resistance, which are part of the metabolic syndrome. However, other causes of hepatitis should be ruled out before making a diagnosis of NAFLD.

Patients who are obese and diabetic are advised to lose weight and control their diabetes. A low-fat, low-calorie diet is usually recommended alongside treatment to lower HbA1c. Patients with NAFLD should avoid alcohol or other substances that could be harmful to the liver.

It is important to note that deranged liver enzymes are not listed as side effects for amoxicillin in the British National Formulary. Therefore, if a patient presents with liver enzyme abnormalities, NAFLD should be considered as a possible cause and appropriate investigations should be carried out to confirm the diagnosis.

Understanding Hepatitis A Infection

Hepatitis A infection is a common viral infection that spreads through the faeco-oral route, particularly in areas like North Africa. It is usually acquired through exposure to contaminated food or water. The infection typically presents with a prodrome of flu-like symptoms, followed by acute hepatitis with right upper quadrant tenderness, jaundice, pale stools, and dark urine.

Fortunately, hepatitis A is a self-limiting condition, and most people recover within 2-6 months without any significant complications. Death from hepatitis A is rare, occurring in only 0.2% of cases. However, relapsing hepatitis A can occur in up to 20% of cases, with each relapse being milder than the previous one.

Treatment for hepatitis A is mainly supportive, and there is no significant risk of progression to cirrhosis. Unlike hepatitis B and C, which are transmitted through blood products and sexual intercourse, hepatitis A and E are transmitted through the faeco-oral route. Therefore, practicing good hygiene and sanitation is crucial in preventing the spread of the infection.

Understanding Gilbert’s Syndrome and Its Differential Diagnosis

Gilbert’s syndrome is a genetic condition that affects the conjugation of bilirubin due to a defect in the bilirubin-uridine diphosphate (UDP) glucuronyl transferase enzyme. This results in an isolated rise in bilirubin levels during times of stress, fatigue, or viral illness. A 48-hour fast can confirm the diagnosis if it is unclear. The condition is benign and does not require specific treatment.

Crigler-Najjar syndrome is another condition that affects UDP glucuronyl transferase, but it presents with jaundice and typically results in death during the neonatal period.

Cholecystitis causes right upper quadrant abdominal pain and fever but does not typically result in jaundice. Acute ethanol poisoning can lead to alcoholic hepatitis, but the mild jaundice and overall well-being of the patient are more consistent with Gilbert’s syndrome.

Viral hepatitis can also cause jaundice, but the clinical picture is more in line with Gilbert’s syndrome. Understanding the differential diagnosis is crucial in determining the appropriate treatment and management for patients.

Causes of haematemesis and their associated symptoms

Haematemesis, or vomiting of blood, can be caused by various conditions affecting the upper gastrointestinal tract. Here we discuss some of the common causes and their associated symptoms.

Mallory-Weiss tear
This type of tear occurs at the junction between the oesophagus and the stomach, and is often due to severe vomiting or retching, especially in people with alcohol problems. The tear can cause internal bleeding and low blood pressure, and is usually accompanied by a history of recent vomiting.

Peptic ulcer disease
Peptic ulcers are sores in the lining of the stomach or duodenum, and can cause epigastric pain, especially after eating or when hungry. Bleeding from a peptic ulcer is usually associated with these symptoms, and may be mild or severe.

Oesophageal varices
Varices are enlarged veins in the oesophagus that can occur in people with chronic liver disease, especially due to alcohol abuse or viral hepatitis. Variceal bleeding can cause massive haematemesis and is a medical emergency.

Barrett’s oesophagus
This condition is a type of metaplasia, or abnormal tissue growth, in the lower oesophagus, often due to chronic acid reflux. Although Barrett’s mucosa can lead to cancer, bleeding is not a common symptom.

Gastritis
Gastritis is inflammation of the stomach lining, often due to NSAIDs or infection with Helicobacter pylori. It can cause epigastric pain, nausea, and vomiting, and may be associated with mild bleeding. Treatment usually involves acid suppression and eradication of H. pylori if present.

In summary, haematemesis can be caused by various conditions affecting the upper digestive system, and the associated symptoms can help to narrow down the possible causes. Prompt medical attention is needed for severe or recurrent bleeding.

Achalasia is a condition where the lower oesophageal sphincter fails to relax during swallowing, causing difficulty in swallowing both solids and liquids. The cause is often unknown, and diagnosis involves various tests such as chest X-ray, barium swallow, oesophagoscopy, CT scan, and manometry. Treatment options include sphincter dilation using Botox or balloon dilation, and surgery if necessary. Oesophageal web is a thin membrane in the oesophagus that can cause dysphagia to solids and reflux symptoms. Chagas’ disease, scleroderma, and diffuse oesophageal spasm are other conditions that can cause similar symptoms but have different causes and treatments.

Gilbert Syndrome

Gilbert syndrome is a common genetic condition that causes mild unconjugated hyperbilirubinemia, resulting in intermittent jaundice without any underlying liver disease or hemolysis. The bilirubin levels are usually less than 6 mg/dL, but most patients exhibit levels of less than 3 mg/dL. The condition is characterized by daily and seasonal variations, and occasionally, bilirubin levels may be normal in some patients. Gilbert syndrome can be triggered by dehydration, fasting, menstrual periods, or stress, such as an intercurrent illness or vigorous exercise. Patients may experience vague abdominal discomfort and fatigue, but these episodes resolve spontaneously, and no treatment is required except supportive care.

In recent years, Gilbert syndrome is believed to be inherited in an autosomal recessive manner, although there are reports of autosomal dominant inheritance. Despite the mild symptoms, it is essential to understand the condition’s triggers and symptoms to avoid unnecessary medical interventions. Patients with Gilbert syndrome can lead a normal life with proper care and management.

Treatment Options for Liver Cysts: Hydatid Disease and Amoebic Liver Abscess

Hydatid disease is a parasitic infection that can occur from consuming undercooked meat sold by street vendors. The majority of cysts occur in the liver, with the remaining cysts isolated to other areas of the body. The preferred treatment is drainage, either surgically or radiologically, along with the use of albendazole to reduce the risk of recurrence. Amoebic liver abscess is a potential differential diagnosis, but ultrasound findings can differentiate between the two. Metronidazole is used to manage amoebic liver cysts, while cefuroxime is used for pyogenic bacterial liver abscess. Definitive management for hydatid disease requires drainage of fluid. For amoebic liver abscess, metronidazole with or without drainage under ultrasound is the preferred treatment.

Reliable Antibody Test for Coeliac Disease

Coeliac disease is an autoimmune condition that targets the gliadin epitope in gluten. It often presents in children with symptoms such as failure to thrive and diarrhoea, which can start during weaning. To diagnose coeliac disease, doctors use antibody tests such as anti-TTG, anti-endomysial antibody, and antigliadin. Among these, anti-TTG is the most reliable and is used as a first-line screening test due to its sensitivity of nearly 100%. Anti-endomysial antibodies are more expensive and observer-dependent, so they are not recommended as a first-line screening test. Antigliadin is rarely measured due to its lower accuracy. It is also important to measure IgA levels because IgA-deficient patients may be asymptomatic and cause a false-negative anti-TTG test.

Autoimmune Conditions and Antibody Tests

Autoimmune conditions can cause a variety of symptoms, including diarrhoea and bloating. Graves’ autoimmune thyroid disease, for example, may present with diarrhoea, but bloating is not commonly associated. To diagnose autoimmune conditions, doctors use antibody tests such as ANCA, which is raised in many autoimmune conditions, including some patients with ulcerative colitis. However, ANCA is not raised in coeliac disease. Therefore, it is important to use the appropriate antibody test for each autoimmune condition to ensure an accurate diagnosis.

Diagnosis and Management of Gastrointestinal Neuroendocrine Tumour (NET)

A patient presenting with symptoms of diarrhoea, wheezing, and flushing may have a gastrointestinal neuroendocrine tumour (NET), also known as carcinoid syndrome. It is important to consider NET in the differential diagnosis, even in relatively young patients, as the average delay in diagnosis is 2-3 years.

Appropriate investigations include routine blood tests, gut hormone measurement, 24-hour urinary 5-hydroxyindoleacetic acid (5-HIAA) measurement, cross-sectional imaging, and gastrointestinal endoscopy. Management options include somatostatin analogues, peptide receptor radiotargeted therapy (PRRT), and molecularly targeted treatments such as sunitinib or everolimus.

Health/illness-related anxiety, or hypochondriasis, should be a diagnosis of exclusion, and physical causes should be addressed first. Irritable bowel syndrome may cause similar symptoms, but without hot flashes or asthma. Colorectal or gastric adenocarcinoma may also be considered, but the symptoms are more consistent with a NET.

Most gastrointestinal NETs are low grade, and even in metastatic disease, the median overall survival is around 10 years. Early diagnosis and appropriate management can improve outcomes for patients with NET.

Criteria for Urgent Endoscopy Referral

Criteria for urgent endoscopy referral include various symptoms such as dysphagia, dyspepsia, weight loss, anaemia, vomiting, Barrett’s oesophagus, family history of upper gastrointestinal carcinoma, pernicious anaemia, upper GI surgery more than 20 years ago, jaundice, and abdominal mass. Dysphagia is a symptom that requires urgent endoscopy referral at any age. Dyspepsia combined with weight loss, anaemia, or vomiting at any age also requires urgent referral. Dyspepsia in a patient aged 55 or above with onset of dyspepsia within one year and persistent symptoms requires urgent referral. Dyspepsia with one of the mentioned conditions also requires urgent referral.

In the presented cases, the 56-year-old man has dyspepsia with an aortic aneurysm, which requires an ultrasound and vascular opinion. On the other hand, the case of unexplained weight loss, tenesmus, and upper right mass is likely to be a colonic carcinoma. It is important to be aware of these criteria to ensure timely and appropriate referral for urgent endoscopy.

Serologic Markers of Autoimmune Diseases

There are several serologic markers used to diagnose autoimmune diseases. These markers include perinuclear antineutrophil cytoplasmic antibodies (p-ANCA), anti-dsDNA antibody, antinuclear antibodies (ANA), anti-smooth muscle antibody (ASMA), and anti-Saccharomyces cerevisiae antibody (ASCA).

p-ANCA is elevated in patients with ulcerative colitis and/or primary sclerosing cholangitis (PSC). Anti-dsDNA antibody is found in systemic lupus erythematosus (SLE). ANA is a sensitive, but not specific, marker for a variety of autoimmune diseases such as SLE, mixed connective tissue disorder (MCTD), and rheumatoid arthritis (RA). ASMA, ANA, and anti-liver–kidney microsomal antibody-1 (LKM-1) are serologic markers of autoimmune hepatitis. Increased levels of ASCA are often associated with Crohn’s disease.

These serologic markers are useful in diagnosing autoimmune diseases, but they are not always specific to a particular disease. Therefore, they should be used in conjunction with other diagnostic tests and clinical evaluation.

Differential Diagnosis for Rectal Bleeding: Haemorrhoids, Colon Cancer, Diverticulitis, Anal Fissure, and Ulcerative Colitis

Rectal bleeding can be a concerning symptom for patients and healthcare providers alike. In this case, the patient has multiple risk factors for haemorrhoids, which are the most likely cause of his symptoms. However, it is important to consider other potential diagnoses, such as colon cancer, diverticulitis, anal fissure, and ulcerative colitis.

Haemorrhoids are caused by increased pressure in the blood vessels around the anus, which can be exacerbated by obesity, chronic constipation, and coughing. Symptoms include fresh red blood and mucous after passing stool, a pruritic anus, and soreness around the anus.

Colon cancer is less likely in this case, as it typically presents with a change in bowel habit and blood in the stool, but not with a pruritic, sore anus. However, if there is no evidence of haemorrhoids on examination, colonoscopy may be recommended to rule out cancer.

Diverticulitis is characterised by passing fresh, red blood per rectum, as well as nausea and vomiting, pyrexia, and abdominal pain.

Anal fissure also involves the passage of small amounts of fresh red blood with stools, but is associated with sharp anal pain when stools are passed.

Ulcerative colitis can be associated with passage of blood and mucous with stools, as well as weight loss, diarrhoea, anaemia, and fatigue. The patient has some risk factors for ulcerative colitis, which has two peak ages for diagnosis: 15-35 and 50-70 years old.

In summary, while haemorrhoids are the most likely cause of this patient’s symptoms, it is important to consider other potential diagnoses and perform appropriate testing to rule out more serious conditions.

Treatment Options for Moderate Exacerbation of Distal Ulcerative Colitis

Distal ulcerative colitis can cause moderate exacerbation, which is characterized by 4-6 bowel movements per day, pulse rate <90 bpm, no anemia, and ESR 30 or below. The first-line therapy for this condition includes topical or oral aminosalicylate, with mesalazine or sulfasalazine being the most commonly used options. However, these medications can cause side-effects such as diarrhea, vomiting, abdominal pain, and hypersensitivity. In rare cases, they may also lead to peripheral neuropathy and blood disorders. Codeine phosphate is not used in the management of ulcerative colitis, while ciclosporin is reserved for acute severe flare-ups that do not respond to corticosteroids. Infliximab, a monoclonal antibody against tumour necrosis α, is used for patients who are intolerant to steroids or have not responded to corticosteroid therapy. However, it can cause hepatitis and interstitial lung disease, and may reactivate tuberculosis and hepatitis B. Steroids such as prednisolone can be used as second-line treatment if the patient cannot tolerate or declines aminosalicylates or if aminosalicylates are contraindicated. Topical corticosteroids are usually preferred, but oral prednisolone can also be considered.

Diagnostic and Treatment Options for Non-Ulcer Dyspepsia in Older Patients

Non-ulcer dyspepsia (NUD) is a common condition characterized by upper gastrointestinal (GI) symptoms without any identifiable cause. However, in older patients, these symptoms may be indicative of a more serious underlying condition. Therefore, the National Institute for Health and Care Excellence (NICE) guidelines recommend upper GI endoscopy for patients over the age of 55 with treatment-resistant symptoms.

Gastric motility studies are indicated in gastric disorders like gastroparesis but are not necessary for NUD diagnosis. Proton pump inhibitors or H2 blockers may be tried if alarm symptoms are not present. Anti-Helicobacter pylori treatment may also be considered. However, acupuncture is not validated as an effective treatment for NUD.

In summary, older patients with NUD should undergo endoscopic evaluation to rule out any serious underlying conditions. Treatment options include proton pump inhibitors, H2 blockers, and anti-Helicobacter pylori treatment, but acupuncture is not recommended.