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Doctor's Desk

Familial Hypercholesterolemia "learn what it means, it could affect you!"

 
 

Why should it be treated?

 

FH must be diagnosed and treated early to prevent the formation of atherosclerotic plaque that blocks the arteries. Men with FH are particularly vulnerable, with up to a 50% chance of having a heart attack by age 50. Accordingly, women have 30% by the age of 60 due to the protective effect of female hormones.

 

How is FH diagnosed?

 

Diagnosis is based on   levels of "bad" (LDL) cholesterol. LDL levels > 190mg/dl (or respectively > 160mg/dl in children) in the presence of a hereditary history (first degree relative) of hypercholesterolaemia make the diagnosis. The presence of early coronary disease (myocardial infarction, balloon or bypass) at a young age (< 55 years for men and < 65 years for women) strengthens the diagnosis.

 

What symptoms does FH show us?

 

People with FH look and feel healthy. It is important to know that generally cholesterol deposition in the vessels does not give us any symptoms until it causes a significant narrowing. Then we may have angina (chest pain), leg pain or cramps when walking, or a stroke. In addition, the appearance of xanthomas and xanthelasma (yellow "bumps" mainly on the elbows or eyelids respectively), but also the characteristic gerontoxo (white white line around the iris). A fairly reliable and representative picture of the state of the vessels is given by a simple, painless and bloodless test called carotid Doppler.

Holding Hands

At what age should treatment begin?

Treatment of FH must begin very early, already in childhood, before the atheromatous plaques even begin to form. It is generally recommended to start medication from the age of 8-10 years, while the American Academy of Pediatrics recommends cholesterol screening in children with a family history of FH between 2 and 10 years of age.

 

Can someone with FH stop medication?

The problem with FH is that the human body is constantly producing cholesterol, so stopping the medication will soon lead to a recovery of high cholesterol levels. Adopting a healthy lifestyle, diet and medication should be lifelong.

 

What does the dietary management of FH involve?

Although diet alone is almost never enough to control cholesterol, it enhances medication. Reducing saturated fat (eg red meat) and replacing it with polyunsaturated fats (eg fish, nuts) and monounsaturated fats (eg olive oil) is fundamental. In general, the total fat in our diet should be less than 30% of our calories. The intake of plant fiber (fruits, greens, vegetables, legumes, whole grains) helps a lot. Products rich in stanols (yogurt, milk, vegetable margarine) can reduce cholesterol by up to 10%. What is most important is everyday life and any occasional deviations from the diet do not create a problem.

 

What is the goal of treatment?

The goal of treatment in people with FH is to reduce levels of "bad" cholesterol < 100mg/dl. If the person has already experienced a cardiac problem (heart attack, stroke, etc.) the goal is redefined even lower to < 70mg/dl.

 
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