Familial hypercholesterolemia

Causes and Risks:
Affected people have consistently high levels of low-density lipoprotein, which leads to premature atherosclerosis of the coronary arteries. Typically in affected men, acute myocardial infarctions ( heart attacks ) occur in their 40s to 50s, and 85% of men with this disorder have experienced a heart attack by age 60. The incidence of heart attacks in women with this disorder is also increased, but delayed 10 years later than in men.

Individuals from families with a strong history of early heart attacks should be evaluated with a lipid screen. Proper diet, exercise , and the use of newer drugs can bring lipids down to safer levels.

It is possible for a person to inherit two genes for this disorder. This magnifies the severity of the condition. Cholesterol values may exceed 600 mg/cc. Affected individuals develop waxy plaques (xanthomas) beneath the skin over their elbows, knees, buttocks. These are deposits of cholesterol in the skin. In addition they develop deposits in tendons and around the cornea of the eye. Atherosclerosis begins before puberty and heart attacks and death may occur before age 30. Little of therapeutic value is presently available for this condition.

The incidence of familial hypercholesterolemia is 7 out of 1000 people.

Prevention:
In families with a history of familial hypercholesterolemia, genetic counseling may be of benefit, especially if both parents are affected. Prevention of early heart attacks requires recognition of existing elevated LDL levels, and a low-cholesterol, low-saturated fat , high-unsaturated fat diet in high-risk people may help to control LDL levels.

Symptoms:



Signs and Tests:
A physical examination may reveal xanthomas and xanthelasmas.

Laboratory testing may show:



Treatment:
The goal of treatment is to reduce the risk of atherosclerotic heart disease and resulting myocardial infarction ( heart attack ).

Diet modification is the initial phase of treatment and is tried for several months before drug therapy is added. Diet modifications include reducing total fat intake to 30% of the total calories consumed. Saturated fat intake is reduced by decreasing the amounts of beef, pork, and lamb; substituting low-fat dairy products; and eliminating coconut and palm oil. Cholesterol intake is reduced by eliminating egg yolks and organ meats. Further reductions in the percentage of fat in the diet may be recommended after the initial trial period. Dietary counseling is often recommended to assist people with these adjustments to their eating habits.

Exercise , especially to induce weight loss , may also aid in lowering cholesterol levels .

Drug therapy may be initiated if diet, exercise, and weight reduction efforts have not reduced the cholesterol levels after an adequate trial period. Various cholesterol-reducing agents are available including:



Prognosis:
The outcome is likely to be poor in people with the homozygote type of familial hypercholesterolemia because it tends to be resistant to treatment.

The outcome of other types of familial hypercholesterolemia depends in part on the patient's compliance with treatment, but reduction in serum cholesterol levels can be achieved and may be significant in delaying a heart attack .

Complications:



Call Your Healthcare Provider:
Call your health care provider or go to the emergency room if you have crushing chest pain or other warning signs of myocardial infarction .

Call for an appointment with your health care provider if you or family members are found to have elevated total cholesterol levels.


Xanthomas are lesions on the skin containing cholesterol and fats. They are often associated with inherited disorders of fat and cholesterol (lipid) metabolism.



Xanthomas are lesions on the skin containing cholesterol and fats. They are often associated with inherited disorders of lipid metabolism (inherited problems with the way that fats are broken down and used).



Xanthomas are raised, waxy-appearing, frequently yellowish-colored skin lesions. They may be associated with an underlying lipid (cholesterol/triglyceride) abnormality.



Xanthomas are raised, waxy-appearing, frequently yellowish-colored skin lesions, seen here on the knee. These may be associated with an underlying lipid (cholesterol/triglyceride) abnormality.