What should you do if you have familial hypercholesterolemia?

A hereditary lipid metabolism disorder may occasionally be the cause of a significantly elevated cholesterol level. It can cause heart attacks and strokes, even in children.

A hereditary lipid metabolism disorder may occasionally be the cause of a significantly elevated cholesterol level. It can cause heart attacks and strokes, even in children. 

Familial hypercholesterolemia is an inherited form of dyslipidemia caused by elevated levels of LDL cholesterol in the blood. Treatment consists of diet and medication to lower the LDL level, and if not enough, LDL apheresis is possible.

Familial hypercholesterolemia is a hereditary disorder of lipid metabolism. The level of a certain blood fat, LDL cholesterol, rises to over 310 mg/dl, sometimes to two to ten times the normal value.

Lipoproteins transport cholesterol from the liver to various organs, while HDL transports cholesterol back from the organs and vessel walls. LDL transports cholesterol from the liver to the various organs, while HDL transports cholesterol back from the organs and vessel walls. However, increasing HDL with medication does not seem to have a positive effect.

Familial hypercholesterolemia is a hereditary form of hypercholesterolemia, which can be caused by a variety of factors.

Cause: Change in the LDL receptor gene

Familial hypercholesterolemia is caused by a mutation in the LDL receptor gene, which is an important prerequisite for LDL cholesterol to be able to get from the blood into the cells. Two other genes, ApoB and PCSK9, also have changes that lead to familial hypercholesterolemia. The genetically determined dysfunction of the LDL receptors can vary in severity, with patients particularly affected if no receptors are formed on the cells or if they are unable to bind LDL cholesterol. As a result, LDL cholesterol is increasingly deposited in various tissues, such as the walls of coronary arteries, carotid arteries, and the main artery (aorta).

Heterozygous and homozygous inherited familial hypercholesterolemia

Familial hypercholesterolemia is inherited in an autosomal dominant manner. This means that just one modified gene (either from the father or mother) is enough to cause the disease.

The heterozygous (non-homogeneous) form of familial hypercholesterolemia is one of the most common congenital metabolic diseases in humans, occurring in 1 in 300 to 500 people. In rare cases, both the mother and father pass on an altered gene to their child, resulting in two altered genes for the LDL receptor. This variant of familial hypercholesterolemia is associated with total cholesterol levels of over 500 to 1200 mg/dl, and is very serious. With a frequency of 1:1,000,000, the homocytogenic form is less common.

symptoms

Initial signs or discomfort from familial hypercholesterolemia are absent. The main cause of “hardening of the arteries,” however, is the increased LDL cholesterol that is circulating in the blood and is deposited on the vessel walls over time (arteriosclerosis). Arteriosclerosis, which narrows the vessels, causes circulatory issues in the affected organs. Serious side effects, like a heart attack, may result.


Externally, the lipid metabolism disorder may be noticeable through reddish to yellowish cholesterol deposits in certain areas of the skin, in tendons (xanthomas) and in the eyes (xanthelasma, arcus corneae).


The doctor suspects “familial hypercholesterolemia” when he or she finds high cholesterol levels in the blood and learns from the patient’s family history that close relatives have similarly high cholesterol levels. Fat deposits in the tendons, such as tendon xanthomas, raise the suspicion of familial hypercholesterolemia.

What are the LDL levels in familial hypercholesterolemia?

In the milder, heterozygous form of the disease, blood LDL-cholesterol levels range from 200 to 400 mg/dL, with triglyceride levels usually not elevated. In the rarer, severe, homozygous form, total cholesterol levels range from 500 to 1200 mg/dl.

The FH score is a diagnostic tool for diagnosing familial hypercholesterolemia. A genetic test (DNA analysis) is usually covered by the health insurance company, and if a corresponding gene change is detected, the diagnosis is confirmed. However, a change in the three previously known genes for hypercholesterolemia is only found in about 70% of people suspected of having familial hypercholesterolemia.

What to do in familial hypercholesterolemia?

Treatment of lipid metabolism disorders involves changing your diet and taking medication. Target values for LDL are usually between 50 and 100 mg/dl, depending on other risk factors. They are coordinated with the doctor.

Nutrition in familial hypocholesterolemia

  • If you are overweight: reduce the calorie intake to match your actual needs and thus shed excess pounds.
  • Consume less saturated (animal) fats and trans fats!
  • Lower cholesterol intake.
  • Slowly increase the amount of fiber in your diet.
  • Eat lots of fruit and vegetables and one or two servings of fatty sea fish per week.
  • Exercise regularly and incorporate more physical activity into your everyday life. 30 minutes of moderate effort 5 times a week would be a good goal.

Medication

Statins are the first choice of drug therapy for familial hypercholesterolaemia, as they block cholesterol formation and restore the liver’s LDL receptor function, reducing LDL levels. Treatment should begin in childhood.

Statins can be combined with ezetimibe and bempedoic acid to reduce LDL cholesterol. PCSK-9 antibodies and To begin include can also be used to reduce the breakdown of hepatic LDL receptors. PCSK-9 antibodies are injected under the skin every two to four weeks, while Inclisiran is only every six months.

Dangerous triglycerides

The main fats we consume on a daily basis are triglycerides. They should be completely broken down into harmless forms in a healthy body. When the natural mechanisms for utilising these lipids fail, the increased level of these lipids causes a variety of serious pathologies

As much as 95% of all the fats we eat are triglycerides (triacylglycerols). They are essential in our diet and should provide about 30% of the daily energy requirement.

The fate of triglycerides in the body

They are transported to the adipose tissue, where they can be stored, and to the muscles, where they are a source of energy, by chylomicrons, a specific fraction of lipoproteins, after absorption from the intestine into the blood. The liver also manufactures triglycerides for the body’s needs. They enter the bloodstream with cholesterol particles as very low-density lipoproteins (VLDL).

Safe level Tryglycerides

Doctors consider a triglyceride (TG) level below 150 mg/dL to be desirable. However, TG concentrations were more precisely determined for each sex :

  • in men – 40-160 mg / dl,
  • in women – 35-135 mg/dl.

Why so dangerous?

Excessive total cholesterol levels have been linked to the development of atherosclerosis and the occurrence of ischemic heart disease, including death, to an equal or even greater extent than elevated total cholesterol levels. As a result, triglycerides are regarded as dangerous fats that should be avoided at all costs.

Reasons for the increase in triglycerides

Among the causes of hypertriglyceridemia (TG levels above normal values), most are idiopathic , i.e. factors not determined by scientists. They are probably genetically determined and inherited in the family. Right behind them are:

  • excessive body mass – overweight (BMI>25 and obesity BMI>30),
  • alcohol abuse,
  • diabetes ,
  • Hypothyroidism,
  • nephrotic syndrome,
  • kidney failure,
  • inflammation of the pancreas,
  • gout,
  • pregnancy ,
  • medicines used:
      o oral contraception
      o beta blockers
      o diuretics (thiazides)

How to reduce the level of tryglycerides?

The consumption of sweets and alcohol promotes an increase in the amount of triglycerides in the blood. As a result, in order to return them to normal levels, sweets should be avoided, and alcohol should be avoided entirely. Natural fish fats containing omega-3 acids can be used to eliminate excess TG (sea fish, – mackerel, tuna, and salmon). There are also drugs that effectively reduce the amount of these lipids, but their use is at the discretion of the doctor.

Chylomicronemia

Triglyceride levels in the blood that are extremely high (>500 mg/dl) may be accompanied by symptoms such as abdominal pain. This condition puts you at risk of developing acute pancreatitis, a potentially fatal disease. This condition is known as chylomicronemia. Excess chylomicrons in the serum cause the sick person’s blood to be milky (just like lymph). Chylomicrons should be broken down within an hour of a meal in a healthy person, and their presence in the blood should be absent.

Attention! The above advice is only a suggestion and should not be used in place of consulting a specialist. Remember, if you have any health concerns, you should always consult a doctor!

Cholesterol and triglycerides: the 8 essential foods

From chocolate to red wine to legumes, foods and beverages can help you lower cholesterol.

Photo by Farhad Ibrahimzade on Pexels.com

Low-density lipoprotein (LDL) cholesterol is the “bad” cholesterol that can cause plaque to form in the walls of coronary arteries, increasing the risk of heart attack and stroke. Each person’s ideal LDL levels vary, and it can be due to bad genes, obesity, and a lack of exercise.

Cholesterol is essential for health, but if levels get too high, LDL can build up in arteries and form plaques, leading to cardiovascular diseases such as chest pain, heart attack, and stroke.

A blood clot can form in an artery and block blood flow, leading to heart attacks, strokes, and peripheral artery disease (PAD). People with high LDL levels are at risk of developing PAD, which forms inside the walls of the arteries that carry blood to the head, stomach, arms, and legs.

Excess LDL is caused by a diet high in saturated fats and trans fats, so eliminating these foods is a good first step. Add some or all of the following LDL-lowering foods daily to improve LDL levels.

Foods that improve your cholesterol and triglyceride levels

Beans and legumes

Beans and other legumes are great sources of soluble fiber, which binds to cholesterol-filled bile salts in the small intestine and helps get rid of them with waste. A study published in the Journal of the American College of Nutrition in June 2007 found that eating half a cup of cooked beans every day can lower both total cholesterol and LDL cholesterol by a lot.

Apples: High in Fiber and Beneficial Antioxidants

Eating an apple a day (or better, two) can slow the oxidation of LDL cholesterol due to the antioxidant polyphenols found in the skin. Antioxidants are important because when LDL cholesterol reacts with free radicals and oxidizes, it makes inflammation and plaque buildup in the arteries more likely.

Nuts and seeds: Full of protein and good fats

Walnuts, almonds, pistachios, pumpkin seeds, chia seeds, and flax seeds are great sources of protein, heart-healthy monounsaturated and polyunsaturated fats, vitamins, minerals, and fiber. They help lower LDL cholesterol and HDL cholesterol without affecting levels of good high-density lipoprotein (HDL) cholesterol. They are, however, high in calories and should be limited to half a cup per day.

Oats and oat bran: A little every day

Beta-glucan is a water-soluble fiber found in oats and oat bran. It lowers both total cholesterol and LDL cholesterol levels. A meta-analysis found that at least 3 grams (g) of fiber a day is enough to lower LDL cholesterol.

Green tea: Antioxidants help lower LDL cholesterol.

Green tea, which is particularly rich in epigallocatechin gallate (EGCG), a powerful antioxidant, has been found to reduce LDL cholesterol levels by 9 milligrams per deciliter (mg/dl) in 17 trials reviewed in the International Journal of Food Science Nutrition. Unlike other teas, green tea leaves are steamed to prevent EGCG from oxidizing. Drinking a few cups of green tea a day should help and keep you from consuming too much caffeine.

Red grapefruit: Up to 20% difference

Eating just one red grapefruit a day for a month may help lower LDL cholesterol levels by 20%. This cardioprotective effect is likely due to compounds called liminoids and lycopene present in the pulp, as well as pectin, a soluble fiber. But grapefruit may also make certain heart medications work better, so you should talk to your doctor before eating it.

Red Wine or Grape: Resveratrol Toast

Resveratrol is a chemical that comes from plants and can be found in red grapes. It may help lower LDL cholesterol and protect against coronary heart disease. Drinking red wine with a meal can help prevent the constriction of blood vessels that can lead to atherosclerosis and heart attack. Resveratrol is found in red, black, and purple grapes, as well as blueberries, cranberries. If you drink alcohol, limit your red wine intake to one or two 5 oz glasses a day.

Plant Phytosterols and Stanols: Watch Your Portions

Chocolate contains plant sterols and stanols, which can reduce LDL cholesterol levels by 14 mg/dl, according to an analysis of 20 trials published in Atherosclerosis in May 2016. Phytosterols block cholesterol absorption in the small intestine, which helps reduce LDL.