Question

(i) Describe current treatment options for classical Familial
Hypercholesterolaemia (FH) i.e. for patients with defective LDL-
receptors. Include on-going clinical trials in your answer, discussing their
scientific basis and any limitations
(ii) Discuss possible future treatments for FH with a focus on gene-based
therapeutics currently under evaluation in pre-clinical (animal) models
of the disease
(total min 500words)

Answer 1

( i ) Treatment for FH :

Statin –works by inhibiting an enzyme responsible for the production of cholesterol.?

Cholesterol absorber – works in the intestine by decreasing cholesterol absorption into the bloodstream.

Bile acid sequestrant – works in the intestine by preventing cholesterol absorption.

Limitation :

Not everyone can take statins especially women who are trying to conceive, pregnant, or nursing.

( ii ) Future treatments for FH :

PCSK9 Inhibitor

Antibodies that bind the PCSK9 enzyme.

Normally, LDL is recycled in the liver by binding to receptors that move it through the cell.

The PCSK9 enzyme weakens this process by connecting to and disabling the receptors, therefore increasing LDL in the liver.

When the PCSK9 inhibitor is introduced, it binds to the enzyme stopping it from attaching to the receptors and getting in the way of the recycling process.