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Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under-recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X-linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen-requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas.
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BACKGROUND: Despite an increased interest in visualising the lymphatic vessels (lymphatics) with Magnetic Resonance Lymphangiography (MRL), there remains little literature describing their appearance in non-lymphoedematous individuals. To determine lymphatic abnormalities, an understanding of how healthy lymphatics appear and behave needs to be established. In this study, MRL of individuals without a history of lymphatic disease was therefore performed. METHODS: A total of 25 individuals (15 female) underwent MRL of their lower limbs using a 3.0T Philips MRI scanner. The first 9 cases were recruited to establish the concentration of Gadolinium-based contrast agent (GBCA) to administer, with the remainder imaged pre- and post-inter-digital forefoot GBCA injections at the optimised dose. Outcomes including lymphatic vessel diameter, tortuosity and the frequency of drainage via particular drainage routes were recorded. RESULTS: Healthy lymphatics following the anteromedial pathway were routinely observed in post-contrast T1 weighted images (average tortuosity = 1.09 ±0.03), with an average of 2.16 ± 0.93 lymphatic vessels, of diameter 2.47 ± 0.50 mm, crossing the anterior ankle. In six limbs, vessels following the anterolateral pathways were observed. No vessels traversing the posterior of the legs were seen. In a subset of ten vessels lymphatic signal, measured at the ankle, peaked 29:50 ± 09:29 mm:ss after GBCA administration. No lymphatic vessels were observed in T2 weighted images. CONCLUSIONS: Contrast-enhanced MRL reliably depicts the lymphatics in the legs of healthy controls. Following inter-digital contrast injection, anteromedial drainage appears dominant. Quantitative measures related to lymphatic vessel size, tortuosity and drainage rate are readily obtainable, and could be beneficial for detecting even subtle lymphatic impairment.
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Lipedema is a common disorder characterized by excessive deposition of subcutaneous adipose tissue (SAT) in the legs, hips, and buttocks, mainly occurring in adult women. Although it appears to be heritable, no specific genes have yet been identified. To identify potential genetic risk factors for lipedema, we used bioelectrical impedance analysis and anthropometric data from the UK Biobank to identify women with and without a lipedema phenotype. Specifically, we identified women with both a high percentage of fat in the lower limbs and a relatively small waist, adjusting for hip circumference. We performed a genome-wide association study (GWAS) for this phenotype, and performed multiple sensitivity GWAS. In an independent case/control study of lipedema based on strict clinical criteria, we attempted to replicate our top hits. We identified 18 significant loci (p < 5 × 10−9), several of which have previously been identified in GWAS of waist-to-hip ratio with larger effects in women. Two loci (VEGFA and GRB14-COBLL1) were significantly associated with lipedema in the independent replication study. Follow-up analyses suggest an enrichment of genes expressed in blood vessels and adipose tissue, among other tissues. Our findings provide a starting point towards better understanding the genetic and physiological basis of lipedema.
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Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribution of genetics is currently unclear. A tightly phenotyped cohort of 200 lipoedema patients was recruited from two UK specialist clinics. Objective clinical characteristics and measures of quality of life data were obtained. In an attempt to understand the genetic architecture of the disease better, genome-wide single nucleotide polymorphism (SNP) genotype data were obtained, and a genome wide association study (GWAS) was performed on 130 of the recruits. The analysis revealed genetic loci suggestively associated with the lipoedema phenotype, with further support provided by an independent cohort taken from the 100,000 Genomes Project. The top SNP rs1409440 (ORmeta ≈ 2.01, Pmeta ≈ 4 x 10–6) is located upstream of LHFPL6, which is thought to be involved with lipoma formation. Exactly how this relates to lipoedema is not yet understood. This first GWAS of a UK lipoedema cohort has identified genetic regions of suggestive association with the disease. Further replication of these findings in different populations is warranted.
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