Short Note on Fredrickson Hyperlipidemia

Wendy Smith^*
*Correspondence: Wendy Smith, Department of Molecular Biology, University of Kentucky, Lexington, KY 40546, USA, Email:

Introduction

Familial hypercholesterolemia affects the body's ability to metabolise cholesterol. People who have familial hypercholesterolemia are therefore more likely to experience early heart attacks and develop heart disease. Families pass down the genetic mutations that lead to familial hypercholesterolemia. Despite the disease being present from birth, symptoms may not show up until later in life. Children who inherit the disease from both parents typically experience symptoms. Death typically occurs before the age of 20 if this uncommon and more severe type is untreated. Both forms of familial hypercholesterolemia are treated with a range of drugs and healthy lifestyle choices. Familial hypercholesterolemia causes abnormally high LDL cholesterol levels in both adults and children. The term "bad" LDL cholesterol is used [1].

Description

The palms, elbows, and knees are the most typical places for cholesterol deposits to accumulate on the skin. Excess cholesterol can also be discovered in the tendons and around the iris of the eyes. The skin around the eyes may also develop them. Tendons the Achilles tendon and several of the tendons in the hands may thicken as a result of cholesterol accumulation. The term "corneal arcus" refers to the white or grey ring that develops around the iris of the eye as a result of elevated cholesterol levels. Although it occurs more frequently in elderly persons, familial hypercholesterolemia can sometimes affect younger people [2].

Familial hypercholesterolemia is brought on by a gene mutation that is passed down from one or both parents. People with this ailment inherit it from their parents. The type of cholesterol that can build up in the arteries and lead to heart disease cannot be eliminated by the body as a result of this alteration. You are more likely to experience familial hypercholesterolemia if one or both of your parents have the gene mutation that causes it. One affected gene affects the majority of those who have the illness [3].

Rarely, a child could receive the defective gene from both parents. A more severe case of the illness may develop from this. You are more likely to experience familial hypercholesterolemia if one or both of your parents have the gene mutation that causes it. One affected gene affects the majority of those who have the illness. Rarely, a child could receive the defective gene from both parents. A more severe case of the illness may develop from this. If one or both of your parents have the gene mutation that causes familial hypercholesterolemia, you are more likely to have it as well. Most affected people only have one gene that is compromised. Rarely, a kid may receive the defective gene from both parents. This could lead to the issue getting worse. For the diagnosis of familial hypercholesterolemia, a complete family history is necessary. Doctors, especially if you were a child, will want to know if your siblings, parents, aunts, uncles, or grandparents have ever had high cholesterol or heart disease. During a physical examination, doctors frequently check the skin around the hands, knees, elbows, and eyes for cholesterol deposits [4,5].

Conclusion

A grey or white ring may develop around the eye's iris, and the tendon in the hand and heel may thicken. A genetic test is not always necessary, even though it can prove familial hypercholesterolemia. Contrarily, a genetic test can assist in determining whether additional family members are also at risk. If one parent has familial hypercholesterolemia, each child has a 50% chance of inheriting it. A rarer and more severe version of the disease can develop if the defective gene is inherited from both parents. Your first-degree relatives, including siblings, parents, and children, should undergo testing if you are found to have familial hypercholesterolemia. This will enable the start of treatment as soon as feasible if required.

Acknowledgement

None.

Conflict of Interest

None.

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