A 47-year-old man has LDL cholesterol 7.8 mmol/L, tendon xanthomata and premature coronary disease in his father. Triglycerides are 1.4 mmol/L and

Question

A 47-year-old man has LDL cholesterol 7.8 mmol/L, tendon xanthomata and premature coronary disease in his father. Triglycerides are 1.4 mmol/L and TSH is normal. What is the most appropriate next investigation?

Accepted Answer

Genetic testing and cascade screening for familial hypercholesterolaemia

Answer

Water deprivation test as the preferred next investigation

Answer

Low-dose dexamethasone suppression test as the next investigation

Answer

Short Synacthen test as the preferred next investigation

Answer

Serum calcitonin alone as the preferred next investigation

Familial hypercholesterolaemia — SCE Endocrinology MCQ

A 47-year-old man has LDL cholesterol 7.8 mmol/L, tendon xanthomata and premature coronary disease in his father. Triglycerides are 1.4 mmol/L and TSH is normal. What is the most appropriate next investigation?