Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia

Completed

Interventions: Genetic: Gene analysis
Other: Historical data of lipid-lowering drug administration
Other: Historical data of plasma lipids, xanthoma changes

Brief Summary: Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.

Detailed Description: To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies:

1. To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);

2. To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels.

3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.

Recruitment & Eligibility

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Arm && Interventions

Group	Intervention	Description
Homozygous Familial Hypercholesterolemia	Historical data of lipid-lowering drug administration	Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Homozygous Familial Hypercholesterolemia	Historical data of plasma lipids, xanthoma changes	Gene Analysis for Homozygous Familial Hypercholesterolemia cases
Homozygous Familial Hypercholesterolemia	Gene analysis	Gene Analysis for Homozygous Familial Hypercholesterolemia cases

Primary Outcome Measures

Name	Time	Method
Number of LDLR Gene Mutations	1 year	Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes. c.796 G\>C and c.1048 C\>T in the LDLR gene c.1448 G\>A and c.1720C\>A in the LDLR gene c.2030 G \>A and c.1257 C\>A in the LDLR gene homozygous mutation c.605 T\>C in the LDLR gene

Secondary Outcome Measures

Name	Time	Method
LDL-C Reduction Percentage	pre-treatment and 6-13 years post treatment	plasma LDL-C reduction percentage with lipid-lowering drugs from pre-treatment to the last time follow-up time point plasma LDL-C reduction percentage calculation: "plasma LDL-C at pre-treatment time point" minus "plasma LDL-C at the last time follow-up time point", and then compared with "plasma LDL-C at pre-treatment time point", namely "plasma LDL-C reduction percentage".