1) A 30 year old young man, a chronic smoker (15 pack years) suffered a mild heart attack, while running on a motorised device. His father died young at the age of 40, from heart attack. The serum LDL. of the young man was found to be 190mg/dl. (2+7+6) (2025 P1) Familial Hypercholesterolemia, 436,465 a) What is your provisional diagnosis? b) How would you proceed to confirm the diagnosis (clinical, ECG, imaging, blood biochemistry etc.)? c) Discuss the genetic basis of inheritance of this familial disease.

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1) A 30 year old young man, a chronic smoker (15 pack years) suffered a mild heart attack, while running on a motorised device. His father died young at the age of 40, from heart attack. The serum LDL. of the young man was found to be 190mg/dl. (2+7+6) (2025 P1) Familial Hypercholesterolemia, 436,465 a) What is your provisional diagnosis? b) How would you proceed to confirm the diagnosis (clinical, ECG, imaging, blood biochemistry etc.)? c) Discuss the genetic basis of inheritance of this familial disease.

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