Genes and Gene Function in Lipoedema
Research type
Research Study
Full title
Identification of genes for lipoedema, and establishing their functions.
IRAS ID
177674
Contact name
Kristiana Gordon
Contact email
Sponsor organisation
St George's University of London
Duration of Study in the UK
5 years, 11 months, 28 days
Research summary
Lipoedema is a relatively rare condition which presents clinically with excessive abnormal fat deposition, typically affecting the legs but not the feet. The extra fat deposition results in heavy legs that are tender, painful and bruise easily. Onset of lipoedema is usually at puberty or other times of hormonal change. Although distinct from obesity, weight gain is a characteristic feature. Dieting often makes little change to the size of the legs. Lipoedema is almost exclusive to females.
Lipoedema is frequently mistaken for lymphoedema (where the swelling is due to fluid accumulation) or obesity. Although the main abnormality is fat, some fluid accumulation can occur from an early stage. Over time lipoedema can become complicated by lymphoedema.
There is no cure for lipoedema at present. Liposuction may prove beneficial in reducing the size of the legs and lessening the pain. However, it should be undertaken by an expert surgeon with knowledge of lipoedema and the lymphatic system, in order to reduce the likelihood of post-operative complications. Liposuction is not a cure and the condition is likely to recur if the patient gains weight. We currently recommend the post-operative use of compression stockings for life in order to prevent the development of a secondary lymphoedema.
There is sometimes a family history of the disorder, suggesting genetic involvement at least in some cases. Our aim is to discover the genes that cause, or predispose to, lipoedema. This will increase our understanding of the underlying cause. We also wish to look at serum from patients in comparison to unaffected individuals, to see if there are any differences we can then investigate further. Once we have discovered mutations we would like to carry out clinical tests on patients with the gene changes in collaboration with the Metabolic Diseases Unit at Addenbrooke's Hospital Cambridge.REC name
London - Fulham Research Ethics Committee
REC reference
16/LO/0005
Date of REC Opinion
19 Feb 2016
REC opinion
Further Information Favourable Opinion