At what age would you generally advise treatment of a female patient with a statin if FH is proven by DNA testing?
In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH.
What is heterozygous familial hypercholesterolemia?
Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disease characterized by markedly elevated plasma concentrations of low-density lipoprotein (LDL) cholesterol (LDL-C), typically well above the 95th percentile for age and sex.
What is the life expectancy of someone with familial hypercholesterolemia?
Familial hypercholesterolemia FAQs A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.
What is the side effects of statin?
What are statin side effects?
- Muscle pain and damage. One of the most common complaints of people taking statins is muscle pain.
- Liver damage. Occasionally, statin use could cause an increase in the level of enzymes that signal liver inflammation.
- Increased blood sugar or type 2 diabetes.
- Neurological side effects.
What should I eat if I have familial hypercholesterolemia?
Fruits and vegetables – all fruits and vegetables are low in saturated fat. Eating more helps to keep saturated fat intake low. They are a valuable source of cholesterol-lowering soluble fibres. FH patients are recommended to try and include at least one pulse (beans, peas, lentils) every day.
What are the symptoms of heterozygous?
Signs and symptoms of heterozygous FH in adults include the following:
- Long-standing history of severe hypercholesterolemia dating back to childhood.
- If no previous acute coronary event, symptoms consistent with ischemic heart disease, especially in the presence of other cardiovascular risk factors (especially smoking)
How do you know if you have homozygous familial hypercholesterolemia?
Diagnosing Homozygous Familial Hypercholesterolemia HoFH can be diagnosed with a simple blood test, a physical exam, and family history. The signs and symptoms of HoFH, including the level of LDL-C, vary from person to person. HoFH may be confirmed with genetic testing.
Can you live a normal life with familial hypercholesterolemia?
A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.
What are the signs and symptoms of familial hypercholesterolemia?
Symptoms
- Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles and around the cornea of the eye.
- Cholesterol deposits in the eyelids (xanthelasmas)
- Chest pain (angina) or other signs of coronary artery disease may be present at a young age.
- Cramping of one or both calves when walking.
