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LDL > 500 mg/dL Research Studies

Homozygous Familial Hypercholesterolemia Research Study

If you have homozygous familial hypercholesterolemia (FH), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings.

Persons with homozygous familial hypercholesterolemia typically have a total and low density lipoprotein (LDL) cholesterol concentration greater than 700 mg/dL with normal triglycerides. Cholesterol deposits called xanthomas are frequently present in the first few years of life and are located on the elbows, knees, between the webs of the fingers and on the Achilles tendons. 

Eligible persons will undergo a comprehensive cardiac evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations. There is no cost to you for travel or medical testing. 

For further information please contact our research coordinator (tel. 301-496-1500, e-mail: bobs@mail.nih.gov

Last Updated: April 13, 2017