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Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in PLIN1, LIPE, ALDH18A1, PPARG, GHR, INSR, RYR1, NPC1, POMC, NR0B2, GCKR, PPARA in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation.

Lymphatic drainage is the main form of therapy for lymphedema, as it affects the pathophysiology of this clinical condition. The two main objectives of lymphatic drainage are the formation and drainage of lymph. In recent years, Godoy & Godoy developed a novel concept of mechanical lymphatic drainage involving a device denominated RAGodoy®, which performs passive exercises of the lower and upper limbs as a form of lymphatic drainage. The aim of the present study was to address the concept of this therapy as well as perform a literature review on its forms of use and the results obtained. All studies analyzed show that this technique used as monotherapy enables the treatment of lymphedema, but superior results are achieved when combined with compression mechanisms.

Background: There is insufficient clear epidemiological and clinical knowledge about lymphedema patient’s population in Mexico, this limits its investigation. The objective of this study is to present basic lymphedema epidemiological data and its clinical characteristics based on the analysis of lymphedema patients’ data collected from a specialized rehabilitation clinic in Mexico. Methods: This is a cohort study developed between 2015 and 2021. The study was carried ou in a private clinic specialized in oncological and peripheral vascular patients’ rehabilitation. Clinical assessments and interviews were performed to collect each case’s clinical history, considering its medical characteristics, physical activity and functionality and socio-demographic information, classified in a matrix, and later statistically evaluated. Results: Among 446 lymphedema patients, gender distribution was represented by 81% female and 19% male with a mean age of 50.5 years (±44.5). The population was categorized into the following three different study groups according to diagnosis: Cancer-Related Lymphedema (CRL), Non-Cancer-Related Secondary Lymphedema (NCRSL) and Primary Lymphedema. 60.08% of the patients had CRL; 25.11% had NCRSL and 14.79% had Primary Lymphedema. Among the patients with CRL, 81% of them corresponded to breast cancer diagnosis, the rest were associated to 19 different cancer diagnoses. The most prevalent diagnosis was breast CRL 48.6%; phlebolymphedema 19.4%; congenital and praecox lymphedema 14.1%; lipo-lymphedema 4.8%. The BMI of 64% of the patients ranged in overweight and obesity. 37.6% of patients reported that had experienced pain in limbs affected by lymphedema and 45% of all patients reported some disability to perform one or more activities associated to their limb volume or limb discomfort. 82% of patients had no physical activity or performed less physical activity than what is suggested to their population group’s recommendation. Conclusion: This study stablishes a precedent on reporting the broadest available epidemiological and clinical data of lymphedema in Mexico. Further studies are needed to report with a higher precision the epidemiological, clinical, and demographical data about each etiological group for a better understanding of lymphedema in Mexico and Latin America.

Background: Lipedema is a chronic and progressive adipose tissue disorder that causes significant morbidity and negatively influences mental health and quality of life, and increases the risk of depression, anxiety, and eating disorders. One construct of relevance to better understanding psychological disorders is emotion regulation (ER). Therefore, the aim of this study is to investigate the difficulties in ER among lipedema patients compared to healthy people without lipedema. Methods: This cross-sectional study assessed differences in ER and anxiety between two groups: 26 female patients with lipedema and 26 sex- and age-matched healthy controls. The Difficulties in Emotion Regulation Scale (DERS) assessed emotional regulation across six dimensions: Impulse control, goal-directed behavior, awareness, clarity, non-acceptance, and strategies. Anxiety was assessed by the Hamilton Anxiety Scale (HAM-A). ANOVA assessed differences in measures between lipedema and healthy control groups. Results: Lipedema patients presented with significantly more difficulties in ER and a higher level of anxiety than those without lipedema. Specifically, the lipedema group showed higher and significant differences in total DERS and anxiety scores and all DERS subscales scores compared to those without lipedema. Conclusions: Lipedema patients showed significant difficulties with ER, and were associated with anxiety symptoms, indicating that ER difficulties may play a role in developing emotional disorders, such as anxiety, for patients with lipedema. The health care provider should pay more attention to ER difficulties and psychological status among lipedema patients.

Objective Lipedema is an inflammatory subcutaneous adipose tissue disease that develops in women and may progress to lipolymphedema, a condition similar to lymphedema, in which lymphatic dysfunction results in irresolvable edema. Because it has been shown that dilated lymphatic vessels, impaired pumping, and dermal backflow are associated with presymptomatic, cancer-acquired lymphedema, this study sought to understand whether these abnormal lymphatic characteristics also characterize early stages of lipedema prior to lipolymphedema development. Methods In a pilot study of 20 individuals with Stage I or II lipedema who had not progressed to lipolymphedema, lymphatic vessel anatomy and function in upper and lower extremities were assessed by near-infrared fluorescence lymphatic imaging and compared with that of a control population of similar age and BMI. Results These studies showed that, although lower extremity lymphatic vessels were dilated and showed intravascular pooling, the propulsion rates significantly exceeded those of control individuals. Upper extremity lymphatics of individuals with lipedema were unremarkable. In contrast to individuals with lymphedema, individuals with Stage I and II lipedema did not exhibit dermal backflow. Conclusions These results suggest that, despite the confusion in the diagnoses between lymphedema and lipedema, their etiologies differ, with lipedema associated with lymphatic vessel dilation but not lymphatic dysfunction.

A Case Series of Lymphatic Injuries After Suction Lipectomy in Women with Lipedema - Article abstract #935016

<span lang="ES-TRAD">Este artículo hace una revisión de la literatura científica que se ha producido recientemente en torno a la obesidad en México, y analiza cómo la perspectiva de género ha sido abordada (o no) en los diferentes trabajos, así como la necesidad de incluirla como una herramienta interdisciplinaria en el estudio de la alimentación. Primero, se presentan diversas maneras de enfocar el tema de la obesidad en los textos revisados; se enfatiza en las cifras obtenidas y se ubica a la obesidad como una problemática social, económica y de salud pública donde se mezcla la influencia de conductas alimentarias, dinámicas familiares y políticas públicas. Segundo, se revisa cómo algunos estudios vinculan el tema de la obesidad con una perspectiva de género y se delinean las contribuciones que este enfoque podría aportar, evocando cuestiones como la discriminación y los movimientos feministas gordos en la conformación de la identidad cultural femenina actual.</span>

Background Lipedema is an underdiagnosed condition in women, characterized by a symmetrical increase in subcutaneous adipose tissue (SAT) in the lower extremities, sparing the trunk. The lipedema SAT has been found to be resistant to diet, exercise and bariatric surgery, in regard to both weight loss (WL) and symptom relief. Current experience indicates that a low carbohydrate and high fat (LCHF-diet) might have a beneficial effect on weight and symptom management in lipedema. Objective To assess the impact of an eucaloric low carbohydrate, high fat (LCHF)-diet on pain and quality of life (QoL) in patients with lipedema. Methods Women diagnosed with lipedema, including all types and stages affecting the legs, (age 18-75 years, BMI 30-45 kg/m2) underwent 7 weeks (wk) of LCHF-diet and, thereafter 6 wk of a diet following the Nordic nutrition recommendations. Pain (visual analog scale) and QoL (questionnaire for lymphedema of the limbs), weight and body composition were measured at baseline, wk 7 and 13. Results Nine women (BMI: 36.7±4.5kg/m2 and age: 46.9±7 years) were recruited. The LCHF diet induced a significant WL -4.6±0.7 kg (-4.5±2.4%), P<0.001 for both, and reduction in pain (-2.3±0.4 cm, P=0.020). No correlation was found between WL and changes in pain at wk 7 (r = 0.283, P = 0.460). WL was maintained between wk 7 and 13 (0.3±0.7 kg, P=0.430), but pain returned to baseline levels at wk 13 (4.2±0.7 cm ,P=0.690). A significant increase in general QoL was found between baseline and wk 7 (1.0 (95% CI (2.0, 0.001), P=0.050) and 13 (1.0 95% CI (2.0, 0.001) P=0.050), respectively. Conclusion A LCHF-diet is associated with reduction in perceived pain and improvement in QoL, in patients with lipedema. Larger randomized clinical trials are needed to confirm these findings. This article is protected by copyright. All rights reserved.

Lipedema is a pathology of adipose tissue, still of unclear etiology and challenging to diagnose. For these reasons, a therapeutic approach is also complex and sometimes controversial. The inflammation state present in lipedema can be limited by controlling the glycemic peaks. Specifically, the ketogenic diet (KD) seems to have the right conditions to be effective. Herein, we reported a subject diagnosed with lipedema who, with only KD nutritional intervention, achieved a significant weight loss (&minus;41 Kg), with a net decrease in body circumferences, and also reporting an improvement in pain, and therefore in the overall quality of life. She refused other types of intervention and kept KD for two years. This case could represent the first step to organize a KD nutritional protocol specifically applied to lipedema.

Adipocytes express various enzymes, such as aldo-keto reductases (AKR1C), 11β-hydroxysteroid dehydrogenase (11β-HSD), aromatase, 5α-reductases, 3β-HSD, and 17β-HSDs involved in steroid hormone metabolism in adipose tissues. Increased activity of AKR1C enzymes and their expression in mature adipocytes might indicate the association of these enzymes with subcutaneous adipose tissue deposition. The inactivation of androgens by AKR1C enzymes increases adipogenesis and fat mass, particularly subcutaneous fat. AKR1C also causes reduction of estrone, a weak estrogen, to produce 17β-estradiol, a potent estrogen and, in addition, it plays a role in progesterone metabolism. Functional impairments of adipose tissue and imbalance of steroid biosynthesis could lead to metabolic disturbances. In this review, we will focus on the enzymes involved in steroid metabolism and fat tissue deposition.

Dercum's disease (DD), also described as adiposis dolorosa, is a poorly understood and rare adipose tissue disorder involving obesity and painful adipose tissue masses. Patients may have associated bruising and constitutional symptoms such as fatigue, difficulty concentrating, and sleep disturbance. DD was initially described in 1888 by Francis Xavier Dercum, and was classified into four subtypes, including generalized diffuse, generalized nodular, localized nodular, and juxta-articular subtypes. While this disease has been described for more than 130 years, its etiology and treatment remain elusive. We describe a case of a patient with DD who presented to Ochsner Medical Center, New Orleans, LA, for evaluation of treatment options. We review current knowledge on this rare disease and data on modern treatment methods.

There is accumulating evidence of endothelial dysfunction, muscle and cerebral hypoperfusion in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). In this paper we deduce the pathomechanisms resulting in central nervous pathology and the myriad of neurocognitive symptoms. We outline tentative mechanisms of impaired cerebral blood flow, increase in intracranial pressure and central adrenergic hyperactivity and how they can well explain the key symptoms of cognitive impairment, brain fog, headache, hypersensitivity, sleep disturbances and dysautonomia.

Lipedema adalah penyakit kronis dan progresif yang dapat menyebabkan kecacatan yang cukup besar, gangguan fungsi sehari-hari, dan gangguan psikososial. Ciri khasnya adalah distribusi lemak tubuh yang tidak proporsional pada ekstremitas Lipedema seringkali tidak dikenali atau salah didiagnosis; Meskipun prevalensi diperkirakan 10% pada keseluruhan populasi wanita, penyebabnya masih belum diketahui. Penelitian bertujuan untuk mengetahui lebih lanjut mengenai penyakit Lipedema secara komprehensif. Literature  review tipe  naratif dari berbagai jurnal internasional. Penulisan ini berdasarkan hasil pencarian sumber literature Google Cendekia dan NCBI Pubmed dengan criteria inklusi penelitian yang dilakukan dengan batas waktu 10 tahun kebelakang dengan rentang waktu 2010 - 2020. Kata kunci yang digunakan untuk mencari literature review adalah “lipedema”, “obesity”, “oedema” dan “lipid”. Literature searching ini menghasilkan 2.509 artikel kemudian dipilih 21 artikel yang kemudian digunakan untuk dianalisis menggunakan systemic literature review. Evaluasi diagnostik dasar lipedema terdiri dari anamnesis, inspeksi, dan palpasi, dengan perhatian khusus pada manifestasi yang tercantum sebagai kriteria klinis. Metode diagnostik lainnya adalah, dual-energy X-ray absorptiometri (DEXA), yang mengukur komposisi tubuh regional, memberikan informasi penghitungan dan distribusi tentang lemak total dan regional, dan massa tulang. Terkait terapi yang dapat diberikan terdiri dari perawatan konservatif dan bedah. Pendekatan terapi secara multidisplin ilmu merupakan pilihan terbaik pada kondisi lipedema saat ini, serta terdapat banyak hal yang tidak diketahui mengenai Lipedema.

Diffuse Lipomatosis is a dermatological lesion consisting of a poorly circumscribed, infiltrative overgrowth of mature adipose tissue that usually affects the trunk and the extremities. The lesions in the Tuberous Sclerosis Complex (TSC) are usually hamartomatous in nature, but lesions arising from adipocytes are rare. There are only three previous reports of association of TSC with diffuse lipomatosis. Herein we present a case series of diffuse lipomatosis in three subjects with TSC and proceed to review the literature for any other reported cases. On the basis of the three index cases and identification of three more cases in the literature, we believe that there is an association of diffuse lipomatosis with TSC that has not been appreciated until now. We believe that this association in some selected cases will serve to improve diagnosis, surveillance, and management..

Lipedema is a painful fat disorder that affects ~11% of the female population. It is characterized by bilateral, disproportionate accumulation of subcutaneous adipose tissue predominantly in the lower body. The onset of lipedema pathophysiology is thought to occur during periods of hormonal fluctuation, such as puberty, pregnancy, or menopause. Although the identification and characterization of lipedema have improved, the underlying disease etiology remains to be elucidated. Estrogen, a key regulator of adipocyte lipid and glucose metabolism, and female-associated body fat distribution are postulated to play a contributory role in the pathophysiology of lipedema. Dysregulation of adipose tissue accumulation via estrogen signaling likely occurs by two mechanisms: (1). altered adipocyte estrogen receptor distribution (ERα/ERß ratio) and subsequent metabolic signaling and/or (2). increased release of adipocyte-produced steroidogenic enzymes leading to increased paracrine estrogen release. These alterations could result in increased activation of peroxisome proliferator-activated receptor γ (PPARγ), free fatty acid entry into adipocytes, glucose uptake, and angiogenesis while decreasing lipolysis, mitochondriogenesis, and mitochondrial function. Together, these metabolic alterations would lead to increased adipogenesis and adipocyte lipid deposition, resulting in increased adipose depot mass. This review summarizes research characterizing estrogen-mediated adipose tissue metabolism and its possible relation to excessive adipose tissue accumulation associated with lipedema.

Dr. Allen and Dr. Hines pioneered and first described lipedema in the 1940s, a common subcutaneous adipose tissue disorder characterized as enlargement of both lower extremities. Lipedema is not edema; it is a genetically determined disturbance in adipose tissue mass and adipose tissue distribution.[1][2][3][4] In 1951 a second seminal paper provided more description of lipedema. Fat distribution involves lower extremities, upper arms, hips, buttocks, thighs sparing trunks, and feet.[2] Lower extremities are characterized by pain, easy bruisability, firm subcutaneous nodules of adipose tissue, and resistance of fat to traditional diet and exercise.[5][6]