Screening Familial hypercholesterolemia (FH)

Low density lipoproteins or LDL cholesterol is known as bad cholesterol as it readily oxidizes and gets deposited in the walls of blood vessels that blocks arteries. They are kind of lipoproteins that transport cholesterol from the liver to various tissues of the body. Individuals with high levels of LDL are at increased risk for atherosclerosis and cardiovascular disease. Familial hypercholesterolemia (FH) is an inherited lipid disorder where high levels of LDL cholesterol is circulated in the blood. The excess cholesterol trapped inside the walls of the blood vessels makes them narrower and thereby reduce or block the blood flow, called as atherosclerosis. Over a period of time lead to various problems to heart and blood vessels known as CVD.

  • FH affects all ages, genders, race and ethnicities.
  • Patient with FH has 20 times greater risk of developing CVD than the normal population.
  • If left untreated, a person with FH has around a 90 times increased risk of dying from CVD at an early age.
How to Identify FH
  • Family history of early heart disease or heart attack
  • Man aged <55 years and woman aged <60 years have had a heart attack, stroke or cardiac event
  • Have very high cholesterol levels
  • Visible signs and symptoms of FH
Physical Symptoms and Signs:

Xanthomas: fatty deposits usually found in tendons and on the elbows, and knees.

Xanthelasma: Small yellowish cholesterol deposits around the eyelids

Corneal arcus: Gray-white cholesterol deposits around the corneas

Effective Management of FH:
  • Early management of FH with appropriate treatment can significantly lower the risk of CVD and early death
  • LDL cholesterol is the primary target of treatment
  • The LDL target for FH recommended by the European Atherosclerosis Society is Children <135mg/dL; Adults <100mg/dL; Adults with Coronary heart disease or diabetes <70mg/dL
Treatment Options for FH:

Lifestyle management: Healthy diet and regular exercise are important to maintaining a healthy weight, which can help lower cholesterol levels. Avoid high fat content diet, add more vegetables, fruits and nuts in the diet. Quit smoking and alcohol

Medications: Lipid lowering medications such as Statins are most commonly used, other medications such as bile acid sequestrants, cholesterol absorption inhibitors, ezetimibe, fibrates, and PSK9 inhibitors

LDL cholesterol apheresis: It is an intensive procedure treatment where LDL is mechanically removed from the blood using special machine

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