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Primary Hypercholesterolaemia

Primary hypercholesterolaemia means LDL cholesterol is raised without another condition such as untreated hypothyroidism being the main cause. It may be polygenic or due to an inherited familial disorder, and persistent high LDL increases long-term cardiovascular risk.

Key takeaways

  • Because the condition usually causes no symptoms until a cardiovascular event, it often goes undetected for years.
  • Diagnosis and treatment targets rely on measurements and laboratory tests, alongside other conditions, medicines and individual risk.
  • Statin therapy is the usual starting point, but some people need additional agents to reach their LDL target, particularly those with very high baseline levels or those who cannot tolerate statins well.

Catalogue matches do not set personal targets or replace the measurements and monitoring used to choose treatment.

Why genetics matter here

Familial hypercholesterolaemia is suspected when LDL is markedly raised, especially with premature cardiovascular disease or a strong family history. Clinical criteria and sometimes genetic testing help distinguish it from more common polygenic high cholesterol.

Lowering LDL over the long term

Bempedoic acid works by blocking cholesterol synthesis upstream of the pathway statins target, making it a useful option in this setting. Managing the condition sits firmly within the scope of cholesterol management and closely overlaps with broader heart and blood-pressure care.

When to seek urgent care

High cholesterol itself causes no emergency symptoms. Call emergency services for chest pressure, sudden breathlessness, facial droop, one-sided weakness, speech difficulty or sudden loss of vision, which may signal heart attack or stroke.