Miscellaneous

Question 1

Presentation of haemochromatosis

Answer 1

-Early symptoms: fatigue, erectile dysfunction, arthralgia of hands
-Bronze skin pigmentation
-DM
-Liver: stigmata of chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition
-Cardiac failure (secondary to dilated cardiomyopathy)
-Hypogonadism (secondary to cirrhosis and pituitary dysfunction)
-Arthritis

Question 2

Investigation of haemochromatosis

Answer 2

-Screening
=transferrin saturation (>50%) and ferritin (raised >500)
=genetic testing for HFE mutation: autosomal recessive
-Liver function tests
-Molecular genetic testing for C282Y and H63D mutations
-MRI to quantify liver and/or cardiac iron
-Liver biopsy if suspected hepatic cirrhosis

Question 3

Management of haemachromatosis

Answer 3

-Venesection
=Monitoring: transferrin saturation kept below 50% and serum ferritin concentration below 50 ug/l
-Desferrioxamine

Question 4

Presentation of alcohol withdrawal

Answer 4

-Symptoms start at 6-12 hours: tremor, sweating, tachycardia, anxiety
-Peak incidence of seizures at 36 hours
-Peak incidence of delirium tremens at 48-72 hours (coarse tremor, confusion, delusions, auditory and visual hallucinations, fever, tachycardia)

Question 5

Investigation of alcohol withdrawal

Answer 5

-Venous blood gas: respiratory alkalosis in delirium, hypochloraemia metabolic acidosis with vomiting, acidosis with ketoacidosis
-Hypoglycaemia
-Increased MCV, thrombocytopenia
-Hypo electrolytes
-Elevated liver enzymes
-Hypocalcaemia and low vit D
-Prolonged INR

Question 6

Management of alcohol withdrawal

Answer 6

-Patients with a history of complex withdrawals from alcohol (i.e. delirium tremens, seizures, blackouts) should be admitted to hospital for monitoring until withdrawals stabilised
-Long-acting benzodiazepines e.g. chlordiazepoxide or diazepam. Lorazepam may be preferable in patients with hepatic failure. Typically given as part of a reducing dose protocol
-Carbamazepine also effective in treatment of alcohol withdrawal
-Phenytoin is said not to be as effective in the treatment of alcohol withdrawal seizures

Question 7

Presentation of Wernicke’s encephalopathy

Answer 7

-Oculomotor dysfunction
=Nystagmus
=Ophthalmoplegia (lateral rectus palsy, conjugate gaze palsy)
-Gait ataxia
-Encephalopathy: confusion, disorientation, indifference and inattentiveness
-Peripheral sensory neuropathy

Question 8

Investigation of Wernicke’s encephalopathy

Answer 8

-Decreased red cell transketolase
-MRI

Question 9

Management of Wernicke’s encephalopathy

Answer 9

-Thiamine replacement
-Magnesium
-Multivitamins

Question 10

Causes of abdominal swelling

Answer 10

-Pregnancy young female, amenorrhoea)
-Intestinal obstruction (history of malignancy/previous operations, vomiting, not opened bowels recently, tinkling bowel sounds)
-Ascites (history of alcohol excess, cardiac failure)
-Urinary retention (history of prostate problems, dullness to percussion around suprapubic area)
-Ovarian cancer (older female, pelvic pain, urinary symptoms like urgency, raised Ca125, early satiety, bloating)