Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
Homozygous familial hypercholesterolemia is a rare inherited disease of metabolism. It occurs
 in less than 1 in 1 million people within the United States. Patients with the disease are
 typically children and young adults who develop heart disease early in life. Children less
 than age 5 years with this disease have suffered heart attacks and death.

 The normal process that removes cholesterol particles from the blood stream does not work in
 patients with this disease. It causes cholesterol to build-up in the arteries and leads to
 hardening of the arteries (atherosclerosis).

 The goal of this study is to detect and measure atherosclerosis in these patients before it
 becomes permanent and potentially life threatening. Patients with this disease can
 participate in this study. Researchers plan to evaluate patients with homozygous familial
 hypercholesterolemia using new and standard methods for detecting atherosclerosis.

 Researchers plan to use information gathered during this study to develop new, promising
 treatments such as liver transplantation and gene therapy.
Familial hypercholesterolemia is an autosomal co-dominant disorder resulting in abnormal LDL
 receptor function, profoundly elevated concentrations of low density lipoproteins,
 accelerated atherosclerosis and death by early adulthood. This disease is heterogeneous in
 both the degree of LDL receptor dysfunction as well as the age of death. Liver
 transplantation has been demonstrated to virtually normalize plasma lipoprotein
 concentrations in homozygous FH and the recent cloning of a functional LDL receptor gene
 holds promise in the definitive treatment of this condition. We propose performing
 longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous
 patients with well-characterized LDL receptor defects. Sequential cardiovascular study of
 these patients will not only characterize the progression of atherosclerosis heart disease in
 this disease, it may also permit the identification of individuals with would be likely to
 benefit from liver transplantation and/or genetic engineering.
-  INCLUSION CRITERIA:

 Fasting cholesterol greater than 500 mg/dl, low density lipoprotein cholesterol greater
 than 400 mg/dl, and triglycerides less than mg/dl.

 Family history of hypercholesterolemia and/or cardiovascular disease before the age of 60
 years.

 Tendinous and tuberous xanthomas.

 Arcus corneae before the age of 30.