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In eight women with FPLD and four controls, skinfold measurements, DXA, and whole-body MRI assessed fat distribution and insulin resistance. Whole-genome sequencing was negative for monogenic metabolic causes, while polygenic scores for FPLD1 were elevated. Compared with controls, the FPLD group showed increased HOMA-IR, reduced thigh skinfold thickness, lower leg fat percentage, and a higher trunk-to-leg fat ratio. MRI indicated decreased femoral and calf subcutaneous adipose tissue without muscle-volume differences. Findings support clinically useful markers for identifying FPLD1 and highlight early diabetes onset.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/clinical-and-imaging-features-of-women-with-polygenic-partial-lipodystrophy-a-case-series/272406/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/clinical-and-imaging-features-of-women-with-polygenic-partial-lipodystrophy-a-case-series/272406.png","ImageObject",300,407,{"name":92,"@type":93},"Caleb Sterling","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-22","2026-09-15",true,{"@type":102,"interactionType":103,"userInteractionCount":24},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What was the main aim of this pilot study?","Question",{"text":112,"@type":113},"To describe the clinical features of women with FPLD and to explore the diagnostic value of adipose tissue measurements for identifying FPLD.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How were insulin resistance and fat distribution evaluated?",{"text":117,"@type":113},"The study used HOMA-IR plus skinfold measurements, DXA for fat distribution (including trunk-to-leg ratios), and whole-body MRI to quantify adipose tissue volumes.",{"name":119,"@type":110,"acceptedAnswer":120},"What key imaging findings distinguished women with FPLD from controls?",{"text":121,"@type":113},"Women with FPLD showed decreased subcutaneous adipose tissue volume in femoral and calf regions on MRI, while abdominal SAT, visceral adipose tissue, and muscle volumes were not different from controls.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},272406,1789464921,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":24,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":44,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":129,"read_time":143},962084925290,"https://ap-avatar.wpscdn.com/davatar_085a072bc5b1113ac321206ff7593b45","Nutrition & Diabetes [www.nature.com/nutd](www.nature.com/nutd)  \nARTICLE OPEN   \nClinical and imaging features of women with polygenic partial lipodystrophy: a case series  \nWann Jia Loh 1,2 ✉ , Jadegoud Yaligar3, Amanda J. Hooper 4,5, Suresh Anand Sadananthan3, Yeshe Kway3,6, Su Chi Lim 7, Gerald. F. Watts5,8, Sambasivam Sendhil Velan3,6,11, Melvin Khee Shing Leow 2,3,9,10,11 and Joan Khoo 1,11  \n© The Author(s) 2024  \n\n|  | BACKGROUND: Familial partial lipodystrophy (FPLD) is an inherited disorder of white adipose tissue that causes premature cardiometabolic disease. There is no clear diagnostic criteria for FPLD, and this may explain the under-detection of this condition. AIM: This pilot study aimed to describe the clinical features of women with FPLD and to explore the value of adipose tissue measurements that could be useful in diagnosis.\u003Cbr>METHODS: In 8 women with FPLD and 4 controls, skinfold measurements, DXA and whole-body MRI were undertaken. RESULTS: Whole genome sequencing was negative for monogenic metabolic causes, but polygenic scores for partial lipodystrophy were elevated in keeping with FPLD type 1 . The mean age of diagnosis of DM was 31 years in the FPLD group. Compared with controls, the FPLD group had increased HOMA-IR (10.3 vs 2.9, p = 0.028) and lower mean thigh skinfold thickness (19.5 mm vs 48.2 mm, p = 0.008) . The FPLD group had lower percentage of leg fat and an increased ratio of trunk to leg fat percentage on DXA. By MRI, the FPLD group had decreased subcutaneous adipose tissue (SAT) volume in the femoral and calf regions (p \u003C 0.01); abdominal SAT, visceral adipose tissue, and femoral and calf muscle volumes were not different from controls.\u003Cbr>CONCLUSION: Women with FPLD1 in Singapore have significant loss of adipose but not muscle tissue in lower limbs and have early onset of diabetes Reduced thigh skinfold, and increased ratio of trunk to leg fat percentage on DXA are potentially clinically |  |\n| --- | --- | --- |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n| .\u003Cbr>useful markers to identify FPLD1 . |  |  |\n|  | Nutrition and Diabetes (2024)14:3; [https://doi.org/10.1038/s41387-024-00260-y](https://doi.org/10.1038/s41387-024-00260-y) |  |\n|  |  |  |\n\nLipodystrophies are a group of disorders characterised by the loss of adipose tissue from the subcutaneous compartment and are classified according to whether the distribution of loss of subcutaneous adipose tissue is considered to be familial or acquired, and partial or generalised [1]. Familial partial lipodystrophy (FPLD) isan under-recognised condition characterised by increased genetic predisposition to abnormalities in white adipose tissue function, quantity, and distribution [2–4]. The under-diagnosis of FPLD is potentially detrimental to the patient, and early treatment may prevent sequelae. These include early onset severe insulin resistance, type 2 diabetes mellitus (T2DM), steatohepatitis, hypertriglyceridemia, hypertension, ovarian hyperandrogenism in women, mood disorders, and premature coronary artery disease and death [3–8].  \nOne of the main limiting factors contributing to the underrecognition of FPLD is the lack of clear diagnostic criteria to diagnose FPLD in clinical practice. A few small studies in FPLD have investigated potential clinical tools, such as skinfold thickness measurement, and imaging by dual-energy x-ray absorptiometry (DXA) [5, 9, 10] and whole-body magnetic resonance imaging (MRI) [7, 11–13] . Meral et al. proposed that  \nfat shadows from DXA body composition scans could help to diagnose certain subtypes of lipodystrophy syndromes, such as FPLD1 (otherwise called Köbberling variety) and FPLD2 (otherwise called Dunnigan variety) [9] . However, there is currently no clear consensus on the diagnostic criteria based on skinfold thickness, DXA, or MRI imaging [1, 14] .  \nThis pilot study aimed to characterise the features of Sing","cbCainVOfKLHLV2C","https://ap.wps.com/l/cbCainVOfKLHLV2C","pdf",1477207,"English","# Background\n# Aim\n# Methods\n# Results\n# Conclusion\n# Research design and methods\n## Participants","[{\"question\":\"What was the main aim of this pilot study?\",\"answer\":\"To describe the clinical features of women with FPLD and to explore the diagnostic value of adipose tissue measurements for identifying FPLD.\"},{\"question\":\"How were insulin resistance and fat distribution evaluated?\",\"answer\":\"The study used HOMA-IR plus skinfold measurements, DXA for fat distribution (including trunk-to-leg ratios), and whole-body MRI to quantify adipose tissue volumes.\"},{\"question\":\"What key imaging findings distinguished women with FPLD from controls?\",\"answer\":\"Women with FPLD showed decreased subcutaneous adipose tissue volume in femoral and calf regions on MRI, while abdominal SAT, visceral adipose tissue, and muscle volumes were not different from controls.\"}]","Clinical and imaging features of women with polygenic partial lipodystrophy: a case series | PDF",23]