Familial hypercholesterolemia

Overview – Familial hypercholesterolemia is an inherited disorder that is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C). There is a higher risk of heart disease and heart attack because of the propensity to early-onset atherosclerosis (deposition of plaque on the inner walls of the arteries).

There is a mutation of one of the genes critical for low-density lipoprotein cholesterol (LDL-C) catabolism. LDL cholesterol is the bad cholesterol that leads to atherosclerosis.



  • A severe form of familial hypercholesterolemia which can cause premature atherosclerotic heart disease occurs in people with the inheritance of two defective genes from both the parents.
  • Angina – Chest pain due to reduced blood flow to the heart.
  • Heart attack.
  • Tendon xanthomata (cholesterol deposits in tendons) and xanthoma (skin lesions with cholesterol deposits).
  • Xanthelasmas, yellow plaques present in the eyelids filled with cholesterol.
  • Corneal arcus, white or grey ring around the cornea.


Complications of familial hypercholesterolemia / high blood cholesterol level

  • Myocardial infarction (heart attack)
  • Ischemic heart disease (coronary artery disease)
  • Stroke
  • Peripheral vascular disease



  • American Heart Association criteria for the diagnosis of familial hypercholesterolemia: low-density lipoprotein cholesterol (LDL-C) >190 mg/dL (>4.9 mmol/L) and either a first degree relative with LDL-C>190 mg/dL or with known premature coronary heart disease (55 years men; <60 years women).
  • Genetic testing may also be done to confirm the diagnosis.


Lifestyle management

  • Follow a healthy diet and exercise program recommended by your doctor. Diet should include a reduced amount of saturated fat, 10 to 20 grams of soluble fiber.
  • Keep all the appointments with your doctor who will check your cholesterol levels to assess the response to the treatment.
  • Maintain healthy body weight.
  • Talk to your doctor about aspirin. Low dose aspirin is generally recommended to those who are at high risk for a cardiovascular disease event.


Medical management

  • Statins – Statins reduce cholesterol levels by blocking the substance that the liver needs to make cholesterol. Choices of statins are atorvastatin, fluvastatin, lovastatin, simvastatin, pravastatin, rosuvastatin.
  • Cholestyramine, colestipol, colesevelam are bile-acid-binding resins that bind to bile acids. This prompts the liver to make more bile acids using cholesterol.
  • Ezetimibe is a cholesterol absorption inhibitor.
  • Alirocumab and evolocumab are newer medications that are used to lower LDL cholesterol in people with familial hypercholesterolemia.
  • Medications that are used to treat high triglycerides are fibrates, niacin, omega-3 fatty acid supplements.

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