A 43-year-old man presents with diarrhoea and rectal bleeding for the past ten days. On examination he has brown pigmented lesions on his lips and palms but abdominal and rectal examination is unremarkable.
What is the most likely cause for this presentation?
Correct Answer D: This patient has Peutz-Jeghers syndrome. Intussusception would not normally cause rectal bleeding at this age. Colon cancer is the most common type of gastrointestinal cancer that patients with Peutz-Jeghers syndrome develop.
Peutz-Jeghers syndrome:
Peutz-Jeghers syndrome is an autosomal dominant condition characterized by numerous hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented freckles on the lips, face, palms and soles.
Around 50% of patients will have died from a gastrointestinal tract cancer by the age of 60 years.
Genetics:
Features:
Management:
A 54-year-old female presents with a 3 month history of dysphagia affecting both food and liquids from the start, along with occasional symptoms of heartburn.
What is the most likely underlying diagnosis?
Correct Answer E: Dysphagia affecting both solids and liquids from the start - think achalasia. This is a classic history of achalasia with dysphagia affecting both solids and liquids from the start.
Achalasia
Failure of oesophageal peristalsis and of relaxation of lower oesophageal sphincter (LOS) due to degenerative loss of ganglia from Auerbach's plexus i.e. LOS contracted, oesophagus above dilated. Achalasia typically presents in middle-age and is equally common in men and women.
Clinical features:
Investigations:
Treatment:
A 22-year-old male blood donor is noted to have the following blood results:
Dipstick urinalysis No bilirubinuria. He has recently complained of coryzal symptoms and a non-productive cough.
What is the most likely diagnosis?
Correct Answer A: An isolated hyperbilirubinaemia in a 22-year-old male is likely to be secondary to Gilbert's syndrome. The normal dipstix urinalysis excludes Dubin-Johnson and Rotor syndrome as these both produce a conjugated bilirubinaemia. Viral infections are common triggers for a rise in the bilirubin in patients with Gilbert's.
Gilbert's syndrome: Gilbert's syndrome is an autosomal recessive* condition of defective bilirubin conjugation due to a deficiency of UDP glucuronyl transferase. The prevalence is approximately 1-2% in the general population.
Investigation and management:
*The exact mode of inheritance is still a matter of debate
A 55-year-old man with a history of gallstone disease presents with a two day history of pain in the right upper quadrant. He has feels 'like I have flu' and his wife reports he has had a fever for the past day. On examination his temperature is 38.1ºC, blood pressure 100/60 mmHg, pulse 102/min and he is tender in the right upper quadrant. His sclera have a yellow-tinge.
Correct Answer C: This patient has Charcot's triad (right upper quadrant pain, fever and jaundice), which is classically linked to ascending cholangitis. The systemic upset and jaundice are less typical of acute cholecystitis.
Ascending cholangitis:
Ascending cholangitis is a bacterial infection of the biliary tree. The most common predisposing factor is gallstones.
Charcot's triad of right upper quadrant (RUQ) pain, fever and jaundice occurs in about 20-50% of patients:
Of the following, which one is the most useful prognostic marker in paracetamol overdose?
Correct Answer B: An elevated prothrombin time signifies liver failure in paracetamol overdose and is a marker of poor prognosis. However, arterial pH, creatinine and encephalopathy are also markers of a need for liver transplantation.
Paracetamol overdose:
Management: The following is based on the current BNF guidance. The National Poisons Information Service/TOXBASE should always be consulted for situations outside of the normal parameters.
Activated charcoal should be given if:
Patients presenting within 8 hours:
Patients presenting 8-24 hours after ingestion:
The following groups of patients are at an increased risk of developing hepatotoxicity following a paracetamol overdose and hence are considered 'high-risk':
King's College Hospital criteria for liver transplantation (paracetamol liver failure) Arterial pH < 7.3, 24 hours after ingestion or all of the following:
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