What is Pure Hypercholesterolemia?

Pure Hypercholesterolemia which is also known by the name of Familial Hypercholesterolemia is a genetic condition in which people have a tendency to have high cholesterol or lipid levels genetically. Having high levels of cholesterol predisposes an individual towards cardiac conditions along with some other potential complications. Due to high cholesterol levels, there are excessive fatty deposits in the vessels which make it tough for the blood to flow through arteries because of which the heart is deprived of the oxygen rich blood that it normally requires for normal functioning causing a heart attack. A stroke may also occur due to low blood flow to the brain due to the fatty deposits. Therefore, it is always advised by physicians to keep the cholesterol in check, maintain a healthy diet and have a healthy lifestyle.

Pure Hypercholesterolemia

What Causes Pure Hypercholesterolemia?

A defect on chromosome 19 is the cause of Pure Hypercholesterolemia or Familial Hypercholesterolemia. Due to this defect, the body is unable to eliminate the bad cholesterol or the LDL from the blood which may result in narrowing of the arteries at a young age. People suffering from Pure Hypercholesterolemia or Familial Hypercholesterolemia will have a family history of hypercholesterolemia or cardiac conditions at a fairly young age. Pure Hypercholesterolemia or Familial Hypercholesterolemia is an autosomal dominant trait meaning that the defective gene needs to be passed by just one parent in order to get this condition. If the gene is inherited from both parents then this condition becomes that more severe and may predispose the patient to heart attacks and other cardiac conditions even in childhood.

What are the Symptoms of Pure Hypercholesterolemia?

The classic symptoms of Pure Hypercholesterolemia or Familial Hypercholesterolemia are:

  • Fatty skin deposits over parts of hands, elbows, knees, ankles, and around the cornea of eye.
  • Cholesterol deposits in the eyelids
  • Chest pain or other symptoms of a coronary artery disease at a very young age.

Diagnosis of Pure Hypercholesterolemia

An individual with Hypercholesterolemia or Familial Hypercholesterolemia will have visible fatty deposits in the skin in the areas mentioned above. An individual presenting with these deposits and having chest pains and other symptoms suggesting a cardiac condition will more likely than not have Pure Hypercholesterolemia or Familial Hypercholesterolemia. The individual with pure hypercholesterolemia will also have a strong family history of cardiac conditions at a fairly young age. A lab tests will reveal high LDL levels in the patient. If the parents of the patient are tested then it will also reveal a high LDL levels. A genetic test also can confirm the presence of Pure Hypercholesterolemia or Familial Hypercholesterolemia.

How is Pure Hypercholesterolemia Treated?

The main aim of treating Pure Hypercholesterolemia or Familial Hypercholesterolemia is to prevent the patient from advancing to have atherosclerotic heart disease. The response to treatment for pure hypercholesterolemia differs from patients who inherit gene from one parent to those who inherit genes from both parents. The former respond quite well to lifestyle changes combined with use of statins, although this is not the case with the latter that require much more aggressive lifestyle changes and more medications.

Coming to lifestyle changes for pure hypercholesterolemia, it is recommended that the patient with pure hypercholesterolemia eats as less fatty food as possible. Some of the foods that the patient needs to avoid are beef, chicken, pork, coconut or palm oils, egg yolks, and organ meats. The pure hypercholesterolemia patient will need to consult a dietician who can chalk out a perfect diet to keep the fat down from the food that he or she eats. Maintaining an ideal body weight is also quite useful in lowering cholesterol levels. Exercising regularly also goes a long way in reducing cholesterol levels.

There are also quite a lot of medications available in the market these days to reduce the cholesterol levels. These medications are called as statins and their job is to reduce the LDL cholesterol or the bad cholesterol from the blood, lower the triglycerides, or increase the HDL or good cholesterol in the body. Some of the common medications used for controlling Hypercholesterolemia or Familial Hypercholesterolemia are lovastatin, pravastatin, simvastatin, Crestor.

What is the Prognosis for Pure Hypercholesterolemia?

The prognosis of Pure Hypercholesterolemia or Familial Hypercholesterolemia depends on how diligently you are following the physician's recommendations, maintaining healthy eating habits, staying away from fatty foods, staying away from alcohol and smoking, exercising. If you follow all these steps then there is a good chance that you can control your cholesterol levels even though due to Pure Hypercholesterolemia or Familial Hypercholesterolemia you may be at an increased risk for cardiac problems. Prognosis is guarded for people who inherit defective genes from both parents due to complications from Pure Hypercholesterolemia or Familial Hypercholesterolemia.

Written, Edited or Reviewed By:


Last Modified On: May 3, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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