Familial Hypercholesterolemia-found on chromosome 19

It is a condition passed down through families when a person has high levels of “bad” cholesterol (LDL) in the bloodstream beginning at birth. It can cause heart attacks early on in life.



It is only necessary to get the abnormal gene from one parent in order to receive the disease. If a child is homozygous (received the gene from both parents) it is much more severe.


•Discovered in 1938 as Autosomal Dominant.
•There are high cholesterol levels. Chest pains and leads to heart disease.
•Increases risk of heart attack. Men=40-50 yrs old. Women=50-65 yrs old (if heterozygous)
•If homozygous then heart attacks are possible around 20-30 yrs old.
•If homozygous, LCL receptors remove cholesterol from blood but if a person is homozygous then they don’t really work
• PCR testing can be done to find out if a person has the disease.

•It is not a very common disease (heterozygous-one in 500 people).You can’t prevent the gene; however, you can prolong from getting a heart attack. Liver transplant is a possibility to help or have agents which help lower cholesterol levels.


Treatment
•Proper diet-decrease fat intake to less than 30% of the total calories each day.
•Exercise
•Medications
•Drug Therapy
•Possible surgery (liver transplant)