A 48-year-old man presents to the diabetes clinic with complaints of polyuria and polydipsia for the past two months. He recently returned from a holiday in Portugal where his urine tested positive for glucose at his GP’s office. He has no significant medical history and is not taking any regular medications, although he did request a trial of sildenafil for erectile dysfunction. On examination, he appears tanned and healthy, with a palpable liver edge and small testes. His lab results show a high transferrin saturation and glucose in his urine. Which diagnostic test would be most helpful in determining his condition?
MRCP2-1841
A 35-year-old woman presents to the haematology clinic for evaluation of possible hereditary haemochromatosis. She is concerned as her 36-year-old sister was recently diagnosed with the condition after experiencing fatigue and joint pain. The patient is worried that she may also have inherited the condition, especially as her sister has significant liver damage and diabetes due to iron overload. The patient reports being in good health and leading a busy life as a full-time teacher and mother to her 5-year-old son. She denies experiencing significant fatigue or joint pain.
The patient has a history of well-controlled psoriasis and heavy menstrual bleeding. She takes no regular medications and has no known medication allergies. Physical examination is unremarkable, with no signs of chronic liver disease.
Her sister’s investigations at the time of diagnosis revealed a ferritin level of 1,527 microgram/L, transferrin saturation of 78%, homozygous C282Y mutation on HFE gene analysis, HbA1C of 53 mmol/mol, and generalised cirrhosis on liver MRI.
The patient’s basic blood tests arranged by her GP show a haemoglobin level of 136 g/dL, mean cell volume of 84.1 fl, ferritin level of 190 microgram/L, and transferrin saturation of 43%.
What is the appropriate next step in investigating the patient for hereditary haemochromatosis?
MRCP2-1842
A juvenile patient reports experiencing bleeding from the anus only after passing stool. They mention a protrusion at the 3 o’clock position that comes out during defecation but goes back in on its own. During flexible sigmoidoscopy, no abnormalities are detected except for the presence of haemorrhoids. What degree of haemorrhoids is being described in this case?
MRCP2-1843
A 50 year old man is admitted to the gastroenterology ward for detoxification from excessive alcohol consumption. He has a history of alcohol dependence syndrome but no other medical conditions or known diagnosis of alcoholic cirrhosis. During examination, he presents with a distended abdomen and evidence of shifting dullness and a succussion splash. The radiologist marks an appropriate site for an ascitic tap in the left iliac fossa after an ultrasound of his abdomen. However, before proceeding with the tap, what is the necessary step to take?
The patient’s blood results show low hemoglobin levels (83 g/l), low platelet count (56 * 109/l), and low white blood cell count (3.5 * 109/l). His electrolyte levels are also imbalanced with low sodium (128 mmol/l) and low potassium (3.2 mmol/l). His liver function tests indicate elevated bilirubin levels (35 µmol/l) and alkaline phosphatase (145 u/l), but normal alanine transaminase (24 u/l). His albumin levels are low (32 g/l), and his coagulation profile shows an elevated INR (1.8) and normal APTT (55 s) and fibrinogen levels (1.3 g/L).
MRCP2-1844
A 55-year-old woman presents to the hospital with complaints of passing dark black stools. She reports experiencing occasional epigastric discomfort and indigestion, which she has been treating with over-the-counter medications like Gaviscon and ranitidine. She has no prior medical history. Upon examination, her blood tests reveal a haemoglobin level of 102 g/L (130 – 180), a white cell count of 7.9 ×109/L (4 – 11), and a platelet count of 512 ×109/L (150 – 400). Her sodium level is 135 mmol/L (137 – 144), potassium level is 3.2 mmol/L (3.5 – 4.9), urea level is 10.9 mmol/L (2.5 – 7.5), and creatinine level is 78 µmol/L (60 – 110). An upper gastrointestinal endoscopy reveals a single gastric ulcer and several duodenal ulcers, and a rapid urease test performed during the endoscopy is negative. The patient has been given information about Helicobacter pylori and asks about treatment for this infection. Based on her test results, what is the most appropriate advice to give her?
MRCP2-1845
A 25-year-old woman in her third trimester presents to the Emergency Department with complaints of fatigue and nausea. She has no significant medical history and is not taking any regular medication. On examination, her blood pressure is 160/95 mmHg and her heart rate is 90 bpm. There is tenderness in the right upper quadrant. Her temperature is 37.2 °C. The following investigations are done: Haemoglobin (Hb): 65 g/l (normal range: 130-170 g/l) White cell count (WCC): 7.2 × 109/l (normal range: 4.0-11.0 × 109/l) Platelets (PLT): 50 × 109/l (normal range: 150-400 × 109/l) Sodium (Na+): 140 mmol/l (normal range: 135-145 mmol/l) Potassium (K+): 4.2 mmol/l (normal range: 3.5-5.0 mmol/l) Creatinine (Cr): 95 µmol/l (normal range: 60-110 µmol/l) Bilirubin: 15 µmol/l (normal range: 2-17 µmol/l) Alanine transaminase (ALT): 700 IU/l (normal range: 5-30 IU/l) Alkaline phosphatase (ALP): 250 IU/l (normal range: 30-130 IU/l) Gamma-glutamyl transpeptidase (γGT): 50 IU/l (normal range: 5-30 IU/l)
What is the most likely diagnosis?
MRCP2-1846
A 16-year-old boy of white Irish parents presents with haematemesis. During gastroscopy, bleeding oesophageal varices are discovered. Despite being born prematurely at 32 weeks, he has been healthy until now. On examination, there are no signs of chronic liver disease, but a palpable spleen is found 4 cm below the costal margin. Invasive venous pressures are as follows: Hepatic wedge pressure −6 mmHg (<7) and Inferior vena cava −3 mmHg (<5). What is the most likely diagnosis?
MRCP2-1847
A 28-year-old woman presents to the gastroenterology clinic for evaluation. She is currently 10 weeks into her pregnancy and was found to have abnormal liver function tests during a routine check-up. She has no significant medical history but admits to occasional IV drug use in her early 20s. Upon examination, her blood pressure is 110/75 mmHg, with a regular pulse of 70/min. Her BMI is 23 and there are no signs of chronic liver disease. Lab results: Test Result Normal Range Hemoglobin (Hb) 140 g/l 135 – 175 g/l White blood cell count (WBC) 6.5 × 109/l 4.0 – 11.0 × 109/l Platelets (PLT) 180 × 109/l 150 – 400 × 109/l Sodium (Na+) 138 mmol/l 135 – 145 mmol/l Potassium (K+) 4.2 mmol/l 3.5 – 5.0 mmol/l Creatinine (Cr) 80 µmol/l 50 – 120 µmol/l Alanine aminotransferase (ALT) 45 u/l 7 – 55 u/l Bilirubin 10 µmol/l 1 – 22 µmol/l Alkaline phosphatase (ALP) 150 u/l 30 – 150 u/l Hepatitis B surface antibody Positive Hepatitis B core antibody Positive Hepatitis B e antigen Negative Hepatitis B surface antigen Negative
What is the most likely diagnosis for this patient?
MRCP2-1848
A 36-year-old man with a history of intravenous drug abuse presents with abnormal liver function tests. He denies any high-risk exposures for over six months.
His viral hepatitis screen reveals the following results:
– Hepatitis B surface antigen (HBsAg) positive – Hepatitis B surface antibody (anti-HBs) negative – Hepatitis B anti-core IgM (anti-HBc IgM) negative – Hepatitis B anti-core (anti-HBc IgG) positive – Hepatitis C antibody positive – Hepatitis C RNA detected
What is the most appropriate interpretation of these serological results?
MRCP2-1849
A 28-year-old woman with a history of intravenous drug use presents to the hepatology clinic at 16 weeks gestation. She has chronic hepatitis C and was unsuccessfully treated with pegylated interferon-alpha, ribavirin, and a protease inhibitor a year ago. What measures can be taken to minimize the risk of vertical transmission?