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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.

Many drugs are responsible, through different mechanisms, for peripheral edema. Severity is highly variable ranging from slight edema of the lower limbs to anasarca pictures as in the capillary leak syndrome. Although most often non-inflammatory and bilateral, some drugs are associated with peripheral edema that is readily erythematous (e.g., pemetrexed) or unilateral (e.g., sirolimus). Thus, drug-induced peripheral edema is underrecognized and misdiagnosed, frequently leading to a prescribing cascade. Four main mechanisms are involved, namely precapillary arteriolar vasodilation (vasodilatory edema), sodium/water retention (renal edema), lymphatic insufficiency (lymphedema) and increased capillary permeability (permeability edema). The underlying mechanism has significant impact on treatment efficacy. The purpose of this review is to provide a comprehensive analysis of the main causative drugs by illustrating each pathophysiological mechanism and their management through an example of drug.

Significance: Primary lymphedema is a chronic condition without a cure. The lower extremities are more commonly affected than the arms or genitalia. The disease can be syndromic. Morbidity includes decreased self-esteem, infections, and reduced function of the area. Recent Advances: Several mutations can cause lymphedema, and new variants continue to be elucidated. A critical determinant that predicts the natural history and morbidity of lymphedema is the patient's body mass index (BMI). Individuals who maintain an active lifestyle with a normal BMI generally have less severe disease compared to subjects who are obese. Because other causes of lower extremity enlargement can be confused with lymphedema, definitive diagnosis requires lymphoscintigraphy. Critical Issues: Most patients with primary lymphedema are satisfactorily managed with compression regimens, exercise, and maintenance of a normal body weight. Suction-assisted lipectomy is our preferred operative intervention for symptomatic patients who have failed conservative therapy. Suction-assisted lipectomy effectively removes excess subcutaneous fibro-adipose tissue and can improve underlying lymphatic function. Future Directions: Many patients with primary lymphedema do not have an identifiable mutation and thus novel variants will be identified. The mechanisms by which mutations cause lymphedema continue to be studied. In the future, drug therapy for the disease may be developed.

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.

"Cardiovascular risk is determined by many factors involving genetics, environmental factors and lifestyle. Thus, the determination of the global cardiovascular risk has to consider several factors. The most important ones are age, blood pressure, cholesterol and its subfractions - in particular, LDL cholesterol and non-HDL cholesterol - and diabetes. The ScoreCard of the European Society of Cardiology considers these factors to determine the 10-year cardiovascular risk to have a major cardiovascular event, such as myocardial infarction, stroke and death. Other important risk factors, such as noise, pollution, family history and nutrition are more complex to be included in the global cardiovascular risk but should be clinically considered"--

Iliac vein compression (IVC) is a common anatomic disorder affecting more than 20% of the adult population, especially young females. Most of those patients are asymptomatic. Some of them will develop symptoms in their left leg, such as swelling, pain, and heaviness. But progression to venous claudication, skin changes, and even venous ulceration is possible. Intolerance to exercise is an undervalued symptom. The most feared complication is the development of a deep venous thrombosis (DVT) and pulmonary embolism (PE). In addition to the symptomatology, the diagnosis can be confirmed using duplex ultrasound, computed tomographic (CT) scan, or magnetic resonance (MR) venography. However, for the exact measurement of the degree of stenosis and indication for stenting, intravascular ultrasound (IVUS) is the preferred tool for assessing iliac vein compression. Those patients are, especially in combination with other risk factors, at higher risk for developing DVT and PE. However, it is difficult to identify the patients who will benefit from a treatment (stenting) in terms of symptomatology and quality of life (QOL) or even in effective DVT prevention. Venous stenting is the treatment of choice and seems to be safe and effective. Poststenting antiplatelet medication is most appropriate for patients with nonthrombotic IVC, whereas postthrombotic patients should preferably be treated with oral anticoagulants. Meticulous selection of patients for treatment is necessary to avoid over-treatment.

The term lipedema is misleading, although it is true that there is an alteration of the fatty tissue, there is little evidence regarding edema. It is considered a disease since the last ICD‑11 (2019), included in the section of pathologies of skin, fat and subcutaneous cellular tissue. However, there are still doubts about whether it should be considered a disease or whether it is an aesthetic disorder. The diagnosis of lipedema can present challenges, since it is often confused with other nosological entities; especially with lymphedema. The aim of this task is to determine the basis for a correct differential diagnosis that helps to recognize lipedema as an entity with its own characteristics in order to facilitate its early identification. Clinical manifestations, plus the anamnesis and detailed examination of each patient, may be sufficient to reach a correct diagnosis. In case of doubt, there are tests capable of differentiating between lipedema and lymphedema. Differential diagnosis between lipedema and lymphedema should be made thoroughly and early in order to offer early advice and specific treatment to patients.

BACKGROUND: Regenerative therapies like cell-assisted lipotransfer or preclinical experimental studies use adipose tissue-derived stem cells (ASCs) as the main therapeutic agent. But there are also factors depending on the clinical donor that influence the cell yield and regenerative potential of human ASCs and stromal vascular fraction (SVF). Therefore, the aim of this review was to identify and evaluate these factors according to current literature. METHODS: For this purpose, a systematic literature review was performed with focus on factors affecting the regenerative potential of ASCs and SVF using the National Library of Medicine. RESULTS: Currently, there is an abundance of studies regarding clinical donor factors influencing ASCs properties. But there is some contradiction and need for further investigation. Nevertheless, we identified several recurrent factors: age, sex, weight, diabetes, lipoedema, use of antidepressants, anti-hormonal therapy and chemotherapy. CONCLUSION: We recommend characterisation of the ASC donor cohort in all publications, regardless of whether they are experimental studies or clinical trials. By these means, donor factors that influence experimental or clinical findings can be made transparent and results are more comparable. Moreover, this knowledge can be used for study design to form a homogenous donor cohort by precise clinical history and physical examination.

Lipedema (LI) is a common yet misdiagnosed condition, often misconstrued with obesity. LI affects women almost exclusively, and its painful and life-changing symptoms have long been thought to be resistant to the lifestyle interventions such as diet and exercise. In this paper, we discuss possible mechanisms by which patients adopting a ketogenic diet (KD) can alleviate many of the unwanted clinical features of LI. This paper is also an effort to provide evidence for the hypothesis of the potency of this dietary intervention for addressing the symptoms of LI. Specifically, we examine the scientific evidence of effectiveness of adopting a KD by patients to alleviate clinical features associated with LI, including excessive and disproportionate lower body adipose tissue (AT) deposition, pain, and reduction in quality of life (QoL). We also explore several clinical features of LI currently under debate, including the potential existence and nature of edema, metabolic and hormonal dysfunction, inflammation, and fibrosis. The effectiveness of a KD on addressing clinical features of LI has been demonstrated in human studies, and shows promise as an intervention for LI. We hope this paper leads to an improved understanding of optimal nutritional management for patients with LI and stimulates future research in this area of study.

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Compression hosiery is commonly used for the management of lymphoedema as well as lipoedema, but it is more commonly indicated for the lower limbs than for the upper limbs. The effects of compression hosiery on upper-limb lipoedema are poorly understood and researched. It is known that compression hosiery works in conjunction with activity or movement when standing or walking, which produces anti-inflammatory and oxygenating effects in the tissues. This effect is naturally difficult to realise in the upper limbs. Lymphoedema practitioners who treat those with lipoedema should bear in mind that compression treatment might not produce the same effects in upper-limb lipoedema as it does in lower-limb lipoedema. In these times of an overstretched health service, pragmatic resource use is essential.

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Lymphedema is the chronic, progressive swelling of tissue due to inadequate lymphatic function. Over time, protein-rich fluid accumulates in the tissue causing it to enlarge. Lymphedema is a specific disease and should not be used as a generic term for an enlarged extremity. The diagnosis is made by history and physical examination, and confirmed with lymphoscintigraphy. Intervention includes patient education, compression, and rarely, surgery. Patients are advised to exercise, maintain a normal body mass index, and moisturize / protect the diseased limb from incidental trauma. Conservative management consists of compression regimens. Operative interventions either attempt to address the underlying lymphatic anomaly or the excess tissue. Lymphatic-venous anastomosis and lymph node transfer attempt to create new lymphatic connections to improve lymph flow. Suction-assisted lipectomy and cutaneous excision reduce the size of the area by removing fibroadipose hypertrophy.

Lipoedema is a chronic progressive disorder of adipose tissue leading to an enlargement of lower extremities. It is considered to be rare; however, the prevalence of the disease is underestimated because it is commonly misdiagnosed as obesity or lymphedema and the general awareness is poor. The etiology of the disorder is considered to be multifarious, including genetic inheritance, hormonal imbalance and microcirculation alterations. Diagnosis is mainly based on medical history and physical examination. Management of lipoedema is focused on reducing the symptoms, improving the quality of life and preventing further progression of the disease. The aim of this paper is to raise the awareness of the disease and provide appropriate clinical guidance for the assessment of lipoedema. We searched through the PubMed/MEDLINE database and took into consideration all of the results available as of 6September, 2020 and outlined the current evidence regarding lipoedema epidemiology, etiology, clinical presentation, differential diagnosis, and management. Better understanding of lipoedema is crucial for establishing an early diagnosis and a proper treatment, which in turn will reduce the psychological and physical implications associated with the disease.

Lipoedema is associated with widespread adipose tissue expansion, particularly in the proximal extremities. The mechanisms that drive the development of lipoedema are unclear. In this Perspective article, we propose a new model for the pathophysiology of lipoedema. We suggest that lipoedema is an oestrogen-dependent disorder of adipose tissue, which is triggered by a dysfunction of caveolin 1 (CAV1) and subsequent uncoupling of feedback mechanisms between CAV1, the matrix metalloproteinase MMP14 and oestrogen receptors. In addition, reduced CAV1 activity also leads to the activation of ERα and impaired regulation of the lymphatic system through the transcription factor prospero homeobox 1 (PROX1). The resulting upregulation of these factors could effectively explain the main known features of lipoedema, such as adipose hypertrophy, dysfunction of blood and lymphatic vessels, the overall oestrogen dependence and the associated sexual dimorphism, and the mechanical compliance of adipose tissue.

Liposuction is one of the most common procedures undertaken in plastic surgery with a steadily increasing trend over the years. Although usually performed as an aesthetic procedure for body contouring, it can also be utilized in specific patient groups for disease symptom reduction. One such disease entity is lipedema. The goal of this video to present the authors' technique in the surgical treatment of lipedema, and to offer the viewer a better understanding of the differences between an aesthetic liposuction and a functional liposuction as performed on a lipedema patient. Between July 2009 and July 2019, 106 lipedema patients have been treated in the authors' specialized lipedema clinic, with a total of 298 liposuction procedures and a median follow-up of 20 months. The mean amount of lipoaspirate was 6354.73 ml (± 2796.72 ml). The patients reported a significant reduction in lipedema-associated complaints and improvement in quality of life. The need for conservative therapy was significantly reduced. No serious complications were reported. The authors also present before and after photographs of three patients. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

The COVID-19 pandemic poses a challenge to the management of non-COVID pathologies such as lymphatic diseases and lipoedema. The use of telemedicine can prevent the spread of the disease. A system is needed to help determine the clinical priority and selection of face-to-face or telemedicine options for each patient and how to carry them out during the pandemic. The Spanish Lymphology Group has drafted a consensus document with recommendations based on the literature and clinical experience, as clinical practice guidelines for the management of lymphatic abnormalities and lipoedema during the COVID-19 pandemic. These recommendations must be adapted to the characteristics of each patient, the local conditions of the centres, and the decisions of health care professionals. The document contains minimum criteria, subject to modifications according to the evolution of the pandemic, scientific knowledge and instructions from health authorities.

PURPOSE: The aim of this narrative review of the literature was to evaluate and summarize the current literature regarding the effect of lipedema on health-related quality of life (HRQOL) and psychological status. METHODS: The authors collected articles through a search into Medline, Embase, Scopus, Web of Science, Physiotherapy Evidence Database (PEDro), and the Cochrane Review. Search terms used included "Lipoedema," "Lipedema," "psychological status," "Quality of life," "Health related quality of life," and "HRQOL." RESULTS: A total of four observational studies were evaluated. The included studies were moderate-quality according to the Newcastle-Ottawa Scale. Three of the included studies demonstrated deterioration of HRQOL and psychological status in patients with lipedema. These studies also identify that pain and tenderness are a more common and dominant characteristic. CONCLUSION: Future studies should establish a specific approach to treat and manage lipedema symptoms. Based on this narrative review of the literature findings, we recommended for the health care provider to pay more attention to HRQOL and psychological status. Moreover, validated and adapted measures of HRQOL and psychological status for patients with lipedema are required. LEVEL OF EVIDENCE: Level V, narrative review.