FAMILIAL HYPERCHOLESTEROLEMIA

Familial hypercholesterolemia (FH) is an inherited disorder characterized by high LDL cholesterol levels (bad cholesterol) at birth and by heart attacks at an early age. People suffering from FH present high LDL cholesterol levels because their bodies cannot eliminate it appropriately from the blood stream by means of the liver.

It is a common disorder that affects 1 out of 500 people, and it is passed down from parent to child—men or women. People suffering from this disorder are more prone to presenting high cholesterol levels and heart disease at an earlier age.


Types of Familial Hypercholesterolemia


Patients might present one of two FH types:

  • Heterozygous familial hypercholesterolemia (HeFH)
  • Homozygous familial hypercholesterolemia (HoFH)

Both types are inheritable, autosomal dominant disorders. This means that the parent carrying the altered gene which causes the disorder has a 50% chance of passing this gene down to each of their children (male or female).


Heterozygous familial hypercholesterolemia (HeFH):
This is the most common type of FH and it affects around 1 out of 200-500 people globally. People with HeFH present an altered copy of the gene that regulates cholesterol. Overall, people with HeFH present LDL cholesterol levels two times higher than normal—e.g., >190 mg/dL.



Homozygous familial hypercholesterolemia (HoFH)
This is the rarest type of FH. It affects around 1 out of 1 million people. A person with HoFH presents two altered copies of the gene that regulates cholesterol—one from each parent. People with HoFH, the most serious type of hypercholesterolemia, present LDL cholesterol levels six times higher than normal—e.g., 500-1,000 mg/dL.



HEART ATTACKS IN PEOPLE SUFFERING FROM HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA ARE REPORTET EVEN DURING CHILDHOOD.


Main causes


When the family or the person itself have a history including high cholesterol levels and premature heart disease, it to the doctor as they may be a suitable candidate for genetic testing. It is also imperative to start treatment as soon as possible.

Familial hypercholesterolemia is family inherited: one of the parents carries an altered gene which generates the disorder and have a 50% chance of passing the altered gene down to their children. 1 out of 500 people carry this gene, which is responsible for causing familial hypercholesterolemia.

Rarely does a person inherit the disorder from both parents. If this occurs, it is considered a very serious type of HoFH as these people usually die before the age of 30 of a heart attack.



Symptoms and signs


  • High total cholesterol and LDL cholesterol levels in the blood
  • Family history of high total cholesterol and LDL cholesterol levels, and/or heart attacks at an early age
  • Increased therapy-resistant LDL cholesterol levels in one or both parents
  • Xanthomas (fat deposits on the skin or tendons)
  • Xanthelasma (fat deposits on the eyelids)
  • Corneal arcus (fat deposits around the cornea)
  • Chest pain (angina).

People suffering from familial hypercholesterolemia develop xanthomas (fat deposits) on the surrounding skin of their elbows, knees and backside, as well as in their tendons at a very early age—sometime during childhood—,experience heart attacks, and death can occur before the age of 30.



Do I have FH?


Diagnosis of this pathology is based on laboratory tests and physical examinations where the doctor can find xanthomas and xanthelasma, as well as fat deposits in the eye—corneal arcus.



Blood tests- Cholesterol measurement




Physical tests- Xanthoma and xanthelasma detection




Studies of heart activity- Stress test




Genetic tests- Alteration or mutation of the LDL receptor gene




Interesting facts:


  • It is estimated that the world’s prevalence of HeFH is around 1 out of 200-500 people.
  • Approximately, between 14 and 34 million people in the world suffer from FH; however, it is estimated that, in most countries, less than 1% are diagnosed.
  • This genetic disorder is caused by a defect in chromosome 19, resulting in the body’s inability to eliminate LDL cholesterol (bad cholesterol) from the blood.
  • Men with HeFH can experience heart attacks or embolism between 50 and 60 years of age.
  • Untreated HoFH may lead to heart attacks, embolism or death around 30 years of age, even before in very serious cases.



Prevention And Cholesterol Control



Treatment for a patient suffering from this pathology starts with a radical change in diet and fat ingestion, which must be limited to a 30% of total calorie intake. It is advisable to seek counseling from a nutritionist who will provide a well-balanced diet plan.

The Familial Hypercholesterolemia Foundation recommends:

Foods to avoid or eat in smaller amounts:

  • Beef, pork and lamb
  • Butter, whole milk and high-fat cheeses
  • Coconut and palm oils
  • Egg yolks and guts
  • Packaged food
  • Fast food
  • Fried or baked foods (cookies, cakes)
  • Processed meats, sausages
  • Frozen foods (pizza, pies)




Recommended foods:

  • Fruits
  • Vegetables
  • Whole grains
  • Legumes
  • Oatmeal
  • Sunflower seeds
  • Almonds
  • Soy
  • Beans
  • Carrots
  • Apples, oranges, bananas, pears, plums and berries




Increase the intake of fresh foods and prepared at home. It is optimal to combine a balanced diet with low-impact exercises such as swimming, ling walks, or bike riding.




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