Familial hypercholesterolemia (FH) (OMIM 143890) is an autosomal-dominant disorder of metabolism caused by lowering of the low-density lipoprotein (LDL) clearance from blood. The genetic causes of FH are the mutations in the specific LDL receptor gene.

The FH patients are characterized by an increase of blood plasma cholesterol and especially of  LDL cholesterol. This increase in LDL cholesterol leads to the development of atherosclerosis and premature myocardial infarction in FH patients. 

FH is one of the most common monogenic disorders in man with the prevalence 1:500 in most populations. The LDL receptor gene mutation spectrum is specific for different ethnic groups.

The FH diagnostics is based both on clinical features of patients and on knowledge of mutations leading to the development of FH in each country.

Clinical features of FH
Treatment of FH
LDL receptor structure and function
Domain structure of the LDL receptor
Cellular pathway of the LDL receptor
LDL receptor gene mutations found in Russia
Diagnostics of FH in Slavic and Ashkenazi families
Inheritance of E397X mutation in the LDL receptor gene in the Slavic family
Inheritance of G197del mutation in the LDL receptor gene in the Ashkenazi Jewish family
LDL receptor gene polymorphisms
Selected references
St.Petersburg FH working group

Studies of familial hypercholesterolemia molecular basis in St-Petersburg and creation of this page were supported in part by grants from Russian Fund for Basic Research 00-04-48962, state program "Leading scientific schools of Russia" 00-15-97931, national program "Human Genome".

You are kindly asked to send your proposals to improve this page and your questions to Mikhail Mandelshtam