Cholesteryl Ester Storage Disorder (CESD) in FH Patients
Research type
Research Study
Full title
A study to assess how common Cholesteryl Ester Storage Disorder (CESD) is in patients with clinical features of Familial Hypercholesterolemia (FH)
IRAS ID
151671
Contact name
Ian McDowell
Contact email
Sponsor organisation
Cardiff University(Research and Innovation Services)
Research summary
Familial Hypercholesterolemia (FH) is condition that causes high blood cholesterol and increased risk of heart disease. It affects approximately 1in 500 of the UK population. FH can be effectively treated using lipid lowering drugs, principally statins. The All Wales FH Service has been set up to improve the early diagnosis of FH and to prevent premature coronary heart disease. Individuals with high cholesterol have DNA tested for mutations in 'FH genes'. If this 'index' patient is gene positive then his/her first degree relatives are also tested. This improves early detection and treatment of FH. However, definitive DNA diagnosis is made in only approximately 1/3 of index patients. The remaining 2/3 of patients with clinical features suggestive of FH do not have the genetic mutations that we can currently detect. Mutations in other genes are likely to be the reason for the high cholesterol. Recently, another condition called Cholesteryl Ester Storage Disorder (CESD) which is caused by a mutation in the LIPA gene has been shown to cause FH like features. Severe forms of CESD can be fatal and require specialist treatment, but less severe forms seen more commonly in the population are treatable using standard lipid lowering treatments. Two groups of researchers have described a genetic test for CESD and how it may be present in people with high cholesterol. However, it is unknown how common this is. We wish to find out how frequently CESD occurs in patients with hypercholesterolemia who currently test ‘negative’ for our routine panel of FH genetic mutations. Carrying out further genetic analysis of stored samples from our cohort of patient samples who lack FH genes will help to answer this question. It may also be relevant for their family members and offer the prospect of conventional or new treatments for this condition.
REC name
Wales REC 3
REC reference
14/WA/1008
Date of REC Opinion
26 Jun 2014
REC opinion
Further Information Favourable Opinion