High Cholesterol, Familial Homozygous FAQ
What causes familial homozygous hypercholesterolemia?
Mutations in the LDL receptor gene impair cholesterol clearance, leading to extremely high LDL levels.
How is familial homozygous hypercholesterolemia diagnosed?
Through genetic testing, lipid profile analysis, and family history assessment.
What are the primary treatment goals for this condition?
Reducing LDL cholesterol to prevent cardiovascular events and managing related complications.
Are lifestyle changes effective for this condition?
While beneficial, lifestyle changes alone are often insufficient due to the genetic severity.
Can medication normalize cholesterol levels in affected individuals?
Treatment can significantly reduce LDL, but normal levels may be challenging to achieve.
What role do PCSK9 inhibitors play in treatment?
They help lower LDL cholesterol when added to standard therapies in resistant cases.
Is familial homozygous hypercholesterolemia common in Malaysia?
It is rare globally, with prevalence in Malaysia not specifically highlighted in current research.
How often should patients monitor their cholesterol levels?
Regular monitoring, typically every 3-6 months, to adjust treatment as needed.
Can children inherit this condition?
Yes, it is an autosomal dominant genetic disorder, requiring early intervention.
What are the risks of untreated familial homozygous hypercholesterolemia?
Premature atherosclerosis, heart attacks, and strokes due to prolonged high LDL exposure.
Are there support groups for this condition in Malaysia?
General heart health support may be available, but specific groups might be limited.
How does this condition differ from familial heterozygous hypercholesterolemia?
Homozygous form is more severe, with higher LDL levels and earlier cardiovascular onset.
Can dietary changes alone manage this condition?
Dietary modifications support treatment but are rarely sufficient on their own.
What is the role of a cardiologist in managing this condition?
Essential for overseeing cardiovascular health and adjusting cholesterol-lowering therapies.
Are there novel therapies being researched for this condition?
Yes, including gene therapy and novel biologics, though availability in Malaysia may vary.
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