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Background: In the USA, the Orphan Drug Act of 1983 defines a rare disease as affecting under 200,000 individuals. Dercum’s disease (DD) is a loose connective (adipose) tissue disease characterized by painful lipomas. While considered a rare disease, the prevalence of DD has not been systematically assessed previously. The objective of this paper is to estimate the prevalence of DD to determine if it is rare or not. Results: Estimates of prevalence of DD using PubMed, the UK Biobank, the US Agency for Health Research and Quality Healthcare Cost and Utilization, physician practices, social media forums and internet searches found the prevalence of DD to be less than 200,000 individuals in the US. These prevalence likely overestimate the disease; however, underestimation may also occur because DD is not well known and may be misdiagnosed. Conclusion: DD meets requirements of the Orphan Drug Act to be classified as a rare disease. Further research should focus on representative population samples in the USA to better estimate the prevalence of DD. Estimating the prevalence is an important first step to increase recognition, research efforts and patient care for people living with DD.

Lipedema is a widespread in concern of etiology partially unknown disease especially in women. In many cases it is accompanied by bleeding complications. Our current work focuses on possible coagulation disorders as potential sources of such bleeding complications. Since only a minority of our patients showed a coagulation defect it is suggestive that the main underlying reason for bleeding in lipedema is of cutaneous origin what may only be forwarded by simultaneously existing coagulation disorders.

Lipedema is an underdiagnosed painful adipose tissue disorder that occurs almost exclusively in women, with onset manifesting at puberty or at times of hormonal change. Unlike many fat disorders, diet and exercise have little to no impact on the prevention or progression of this disease. Estrogens control the distribution of body fat and food intake, regulate leptin expression, increase insulin sensitivity, and reduce inflammation through signaling pathways mediated by its receptors, estrogen receptor alpha (ERα) and ERβ. This review will focus on understanding the role of estrogen in the pathogenesis of the disease and envisage potential hormonal therapy for lipedema patients.

Lipoedema is a chronic disease frequent in women, that causes an abnormal fat deposition in their lower limbs, with a remarkable disproportion between the upper and lower part of the body, easy bruising and pain. Despite the lack of pathognomonic tests for lipoedema, more and more patients in social networks are claiming they suffer from it, giving the disease more visibility but allowing a lot of fake information about lipoedema. Information for self-care and realistic expectations are important. Depending on the severity, the treatment includes: physical therapies, compression garments, exercise, diet, psychological support and surgical treatment.

Background: Lymphatic disease patients make up a significant proportion of the US and world populations. Due to inadequate medical school training and underestimation of the impact of lymphatic circulation, lymphatic disease patients often have difficulty finding competent diagnosis and care. Methods and Results: The Lymphatic Education & Research Network has initiated a Centers of Excellence program to designate institutions that provide services for lymphatic disease patients. Committees of experts drafted standards for five types of Centers of Excellence. Conclusions: The Centers of Excellence program is now launched, and the description of the formation process herein could provide other organizations guidance for similar ventures.

PURPOSE OF REVIEW: Williams syndrome is a multisystem disorder caused by a microdeletion on chromosome 7q. Throughout infancy, childhood, and adulthood, abnormalities in body composition and in multiple endocrine axes may arise for individuals with Williams syndrome. This review describes the current literature regarding growth, body composition, and endocrine issues in Williams syndrome with recommendations for surveillance and management by the endocrinologist, geneticist, or primary care physician. RECENT FINDINGS: In addition to known abnormalities in stature, calcium metabolism, and thyroid function, individuals with Williams syndrome are increasingly recognized to have low bone mineral density, increased body fat, and decreased muscle mass. Furthermore, recent literature identifies a high prevalence of diabetes and obesity starting in adolescence, and, less commonly, a lipedema phenotype in both male and female individuals. Understanding of the mechanisms by which haploinsufficiency of genes in the Williams syndrome-deleted region contributes to the multisystem phenotype of Williams syndrome continues to evolve. SUMMARY: Multiple abnormalities in growth, body composition, and endocrine axes may manifest in individuals with Williams syndrome. Individuals with Williams syndrome should have routine surveillance for these issues in either the primary care setting or by an endocrinologist or geneticist.

Background: Lack of diagnostic awareness of lipedema and frequent confusion with obesity or lymphedema may be an obstacle for treatment. The clinical effects of conservative treatment methods are not clearly known. This study investigated the effects of exercise-based rehabilitation combined with complete decongestive therapy (CDT) or intermittent pneumatic compression therapy (IPCT) or alone in patients with severe lipedema. Methods: Thirty-three women with severe (type 3, stage III or IV) lipedema diagnosed according to the revised-Wold criteria were randomized into three groups: Group 1 (CDT plus exercises), Group 2 (IPCT plus exercises), and Group 3 (control-exercises alone). All groups received 30 sessions of combined (aerobic, strengthening, and stretching) exercise program. In addition, there were CDT in Group 1 and IPCT in Group 2 five times a week for 6 weeks. The primary outcome measure was the limb volume measurements. The secondary outcome measures were anthropometric measurements (body weight, body mass index, waist-to-height ratio, waist-to-hip ratio), 6-minute walk test, visual analog scale for pain, fatigue severity scale, Beck Depression Inventory, and Short Form Health Survey-36 (SF-36). Results: Thirty-one participants completed the interventions. Limb volumes (p = 0.017, ηp2 = 0.562 for right; p < 0.001, ηp2 = 0.775 for left), pain (p = 0.045, ηp2 = 0.199), and physical functioning subscore of SF-36 (p = 0.040, ηp2 = 0.465) differed significantly between treatments originating from Group 1. Conclusions: All programs improved outcome measurements after the intervention. However, when the difference between treatments was investigated, CDT administered in addition to the exercises has been shown to provide significant improvements in reducing limb volumes, pain, and physical function. Clinical trial registration number: The study was registered at the US National Institutes of Health (ClinicalTrials.gov) (NCT03924999) and available at https://clinicaltrials.gov/ct2/show/NCT03924999?term=lipedema&draw=2&rank=6.

Background: The aim of this study is to investigate the effect of complex decongestive physiotherapy (CDP) plus intermittent pneumatic compression (IPC) applications on lower extremity limb circumference and volume in patients with lipedema. Methods and Results: In measurement of limb volume and circumference measurement, the Perometer 400 NT was used before and after treatment. The perometer measurements in this study were performed in the certain five reference points (cB, cC, cD, cE, and CF). All participants included in the study were included in a treatment protocol consisting of CDP and IPC. It was seen that statistically significant reduction was found in the circumference of 3 of the 5 points of measurements performed in the left limb, whereas statistically significant reduction was found in the circumference of 4 of the 5 points of measurements performed in the right limb. When the assessments of limb volume performed with the perometer were compared before and after CDP, it was seen that statistically significant reduction was found in the volume of both limbs. Conclusion: This reduction indicates that CDP is effective in the treatment of lower extremity lipedema. Clinicaltrials.gov with an ID of NCT04492046.

Lipoedema is a subcutaneous adipose tissue disease characterized by the increase in the amount and structure of fat mass (FM) in specific areas, causing pain and discomfort. 95% of patients fail to lose weight in the lipoedema areas. The study was conducted to evaluate body composition and general health status modification in a group of lipoedema patients (LIPPY) and a control group (CTRL) after four weeks of a modified Mediterranean diet therapy (mMeD). A total of 29 subjects were included in the data analysis, divided in two groups: 14 LIPPY and 15 CTRL. After the mMeD, both groups significantly decreased their weight and body mass index; the CTRL also showed a reduction of all the circumferences and all FM's compartments. LIPPY showed a decrease of FM in upper and lower limbs. No significant differences in Δ% between the groups were observed for the lean mass (LM). In LIPPY, an increase in the patients' ability to perform various daily physical activities related to the loss of arms' and legs' fat was observed. According to the European Quality of Life scale, the possibility for LIPPY subjects to perform simple daily activities with less fatigue, pain and anxiety is highlighted. Further long-term studies are recommended to confirm the mMeD as a good strategy for Lipoedema treatment.

Lipedema is a type of subcutaneous adipose tissue disorder that affects mainly women. Its main symptom is bilateral fat accumulation on the extremities with associated pain in the affected areas. Despite growing interest in lipedema among patients and medical health professionals, lipedema is still often misdiagnosed, misunderstood, and mistreated. To promote better understanding of lipedema, we aimed to investigate factors related to the quality of life and describe selected sociodemographic and clinical characteristics of women with lipedema in Poland.

Resumen Introducción El lipedema es el depósito de tejido graso doloroso fundamentalmente en miembros inferiores. Afecta casi siempre a mujeres, y está infradiagnosticado e infratratado. El objetivo del estudio es describir las características del diagnóstico y los tipos de tratamientos realizados por los pacientes con lipedema en España. Material y métodos Estudio descriptivo transversal mediante encuesta online anónima realizada entre noviembre-diciembre 2019. Se calculó el tamaño muestral mínimo para un nivel de confianza del 95% y margen de error del 5%. Se recogieron las variables sociodemográficas (edad, sexo y comunidad de residencia), aspectos diagnósticos y la mejoría percibida con diferentes opciones de tratamiento. Resultados Se obtuvieron 463 respuestas válidas. La edad media de inicio de la sintomatología fue de 18,2 años (DE: 9,0). El 69% de los pacientes comenzaron con clínica entre los 10-19 años. Transcurrieron 19,9 años (DE: 10,1) desde el inicio de la clínica, y se necesitaron 4,9 visitas médicas (DE: 3,3) para obtener un diagnóstico. El diagnóstico se realizó con más frecuencia en la medicina privada por cirujanos. El 78,4% de los pacientes probaron, al menos, 3 tipos diferentes de tratamientos. La pérdida de peso fue el tratamiento más utilizado y las prendas de compresión la opción percibida como más efectiva. Un 34% de los pacientes tienen acceso a la prescripción de prendas de compresión. Conclusiones Actualmente el lipedema carece de un tratamiento estandarizado, y las diferentes terapias realizadas no son percibidas como satisfactorias por los pacientes. Es necesario mejorar su conocimiento para obtener un diagnóstico temprano y proporcionar a los pacientes tratamientos adecuados. Introduction Lipedema is a chronic and progressive disease. Most studies agree that it is underdiagnosed and undertreated. The aim of this study was to identify the diagnostic characteristics and types of treatment for lipedema in the Spanish population. Material and methods A cross-sectional descriptive study was carried out through an anonymous 10-item online survey in November- December 2019. The minimum sample size was calculated for a 95% confidence level and 5% margin of error. Information was collected on sociodemographic variables (age, sex, place of residence), diagnostic characteristics and perceived improvement with distinct treatment options. Results A total of 463 valid responses were obtained. The mean age at first manifestation was 18.2 (SD: 9.0) years. Onset occurred between the ages of 10 and 19 years in 69% of the patients. It took an average of 19.9 (SD: 10.1) years to receive a diagnosis and 4.9 medical visits. Diagnosis was most frequently made in private clinics by surgeons. Most patients (78.4%) had tried at least three different types of treatment. Weight loss was the most frequent treatment (92%) and compression garments were perceived to be the most effective. Only 34% of respondents had access to financing for compression garments. Conclusions Currently, there is no standard treatment for lipedema and patients perceive current treatments to be unsatisfactory. Better knowledge of this entity is needed to allow early diagnosis and provide adequate treatment.

Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Diagnostic et de Soins; PNDS), based on a critical literature review and multidisciplinary expert consensus, is to provide health professionals with an explanation of the optimal management and care of patients with primary lymphedema. This PNDS, written by consultants at the French National Referral Center for Primary Lymphedema, was published in 2019 (https://has-sante.fr/upload/docs/application/pdf/2019-02/pnds_lymphoedeme_primaire_final_has.pdf). Primary lymphedema can be isolated or syndromic (whose manifestations are more complex with a group of symptoms) and mainly affects the lower limbs, or, much more rarely, upper limbs or external genitalia. Women are more frequently affected than men, preferentially young. The diagnosis is clinical, associating mild or non-pitting edema and skin thickening, as confirmed by the Stemmer’s sign (impossibility to pinch the skin on the dorsal side or the base of the second toe), which is pathognomonic of lymphedema. Limb lymphoscintigraphy is useful to confirm the diagnosis. Other causes of swelling or edema of the lower limbs must be ruled out, such as lipedema. The main acute lymphedema complication is cellulitis (erysipelas). Functional and psychological repercussions can be major, deteriorating the patient’s quality of life. Treatment aims to prevent those complications, reduce the volume with low-stretch bandages, then stabilize it over the long term by exercises and wearing a compression garment. Patient education (or parents of a child) is essential to improve observance.

Lipedema is a painful, underdiagnosed adipose tissue disorder, characterized by symmetrical swelling of the extremities due to subcutaneous fat deposition in the buttocks, thighs, legs, and arms, sparing the most distal part of the extremities. Although etiology and pathogenesis of lipedema is unclear, possible role of hormonal and genetic factors have been proposed previously. Patients with lipedema suffer from pain, easy bruising, tenderness, and disfigurement. Pain is the leading symptom in lipedema. Since the pain is associated with depression and impaired quality of life, reduction of pain is the major therapeutic approach. Pain in lipedema is attributed to allodynia, exaggerated sympathetic signaling, and estrogens. Although the mechanism of pain in lipedema is uncertain, effective treatment of lipedema should provide a satisfactory pain reduction. Efficacy of the conservative treatment is a matter of debate. Microcannular tumescent liposuction is the most effective therapeutic option for lipedema. There is a large body of evidence that this procedure significantly reduces pain in patients with lipedema.