A 54-year-old female presents with fatigue and xerostomia. Bloods tests reveal the following:
What is the most likely diagnosis?
Correct Answer C:
Primary biliary cirrhosis - the M rule:
The dry mouth is this patient is due to sicca syndrome, which occurs in 70% of cases of primary biliary cirrhosis. The raised alkaline phosphatase point towards a diagnosis primary biliary cirrhosis rather than primary Sjogren's syndrome.
Primary biliary cirrhosis: features: Primary biliary cirrhosis is chronic liver disorder typically seen in middle-aged females (female:male ratio of 9:1). The aetiology is not fully understood although it is thought to be an autoimmune condition. Interlobular bile ducts become damaged by a chronic inflammatory process causing progressive cholestasis, which may eventually progress to cirrhosis. The classic presentation is itching in a middle-aged woman.
Clinical features:
Complications:
Which one of the following is the most likely presentation of Staphylococcus aureus food poisoning?
Correct Answer D: Severe nausea and vomiting are caused by enterotoxins A-E.
Gastroenteritis:
Gastroenteritis may either occur whilst at home or whilst travelling abroad (travellers' diarrhoea) Travellers' diarrhoea may be defined as at least 3 loose to watery stools in 24 hours with or without one of more of abdominal cramps, fever, nausea, vomiting or blood in the stool. The most common cause is Escherichia coli.
Another pattern of illness is 'acute food poisoning'. This describes the sudden onset of nausea, vomiting and diarrhoea after the ingestion of a toxin. Acute food poisoning is typically caused by Staphylococcus aureus, Bacillus cereus or Clostridium perfringens.
Stereotypical histories:
Incubation period:
*vomiting subtype, the diarrhoeal illness has an incubation period of 6-14 hours
Which one of the following is most suggestive of Wilson's disease?
Correct Answer D: Wilson's disease - serum caeruloplasmin is decreased.
Wilson's disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. Metabolic abnormalities include increased copper absorption from the small intestine and decreased hepatic copper excretion. Wilson's disease is caused by a defect in the ATP7B gene located on chromosome 13.
The onset of symptoms is usually between 10 - 25 years. Children usually present with liver disease whereas the first sign of disease in young adults is often neurological disease.
Features result from excessive copper deposition in the tissues, especially the brain, liver and cornea:
Diagnosis:
Management:
A 54-year-old man with a long history of heartburn has an endoscopy to investigate his symptoms. A biopsy is taken from an abnormal area of mucosa in the lower oesophagus and reported as follows: Non-dysplastic columnar-lined oesophagus.
What is the most suitable management?
Correct Answer E: The 2005 British Society of Gastroenterology guidelines state that high-dose proton pump inhibitor therapy is first-line treatment in such patients. There is yet insufficient evidence to support the use of endoscopic ablation.
Barrett's oesophagus:
Barrett's refers to the metaplasia of the lower oesophageal mucosa, with the usual squamous epithelium being replaced by columnar epithelium. There is an increased risk of oesophageal adenocarcinoma, estimated at 50- 100 fold.
Histological features:
A 46-year-old man is being investigated for indigestion. Jejunal biopsy shows deposition of macrophages containing PAS-positive granules.
Correct Answer D: Whipple's disease: jejunal biopsy shows deposition of macrophages containing Periodic acid-Schiff (PAS) granules.
Whipple's disease: Whipple's disease is a rare multi-system disorder caused by Tropheryma whippelii infection. It is more common in those who are HLA-B27 positive and in middle-aged men.
Features:
Investigation:
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