Familial Hypercholesterolemia [LDLR]: Abnormal low-density lipoprotein receptors caused by mutations in the LDLR gene effectively remove cholesterol from the bloodstream primarily into the liver; therefore leaving an excess amount of cholesterol in the blood to be stored in inappropriate places. High cholesterol levels in the bloodstream and other relevant tissues such as the heart can cause serious health conditions (such as early heart disease and even a heart attack).
For detailed information about this disease visit : National Institutes of Health (NIH) >