Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.

PURPOSE: The differential diagnosis of lipodystrophy involves other disorders characterized by severe fat loss and may be sometimes challenging. Owing to the rarity of lipodystrophy, it is relevant to search for tools and assays that differentiate it from other diseases that may mimic it. We conducted a study on leptin and high molecular weight (HMW) adiponectin serum concentrations in a series of patients diagnosed with lipodystrophy and compared them with those found in anorexia nervosa, one of the illnesses that may be cause of a missed diagnosis of lipodystrophy. METHODS: Leptin and HMW adiponectin serum concentrations were measured in six patients diagnosed with generalized lipodystrophy (GL), six with progeroid syndromes (PS), 13 with familial partial lipodystrophy type 1 (FPLD1, Kobberling syndrome), 10 with familial partial lipodystrophy type 2 (FPLD2, Dunnigan syndrome), 18 with acquired partial lipodystrophy (APL) and 12 affected by anorexia nervosa (AN). Measurements were compared to those obtained in 12 normal weight healthy subjects. RESULTS: Serum leptin concentrations were reduced to a similar degree in GL, PS and AN, proportionally to the extent of fat loss. Serum concentrations of HMW adiponectin were found extremely low in patients with GL and PS, while comparable to normal weight subjects in patients with AN. CONCLUSION: Serum HMW adiponectin can be regarded as a useful tool to discriminate between generalized lipodystrophy syndromes (including PS) and AN.

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.

Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of European centers of excellence working in the field of lipodystrophies aiming at promoting international collaborations to increase basic scientific understanding and clinical management of these syndromes. The network has developed a European Patient Registry as a collaborative research platform for consortium members. ECLip and ECLip registry activities involve patient advocacy groups to increase public awareness and to seek advice on research activities relevant from the patients perspective. The annual ECLip congress provides updates on the research results of various network groups members.

A rapid action plan to improve diagnosis and management of lipodystrophy syndromes.

Introduction: Lipodystrophy syndromes are rare diseases that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage. Many patients with lipodystrophy syndromes are only diagnosed after significant metabolic abnormalities arise. Prompt action by clinical teams may improve disease outcomes in lipodystrophy syndromes. The aim of the Rapid Action Plan is to serve as a set of recommendations from experts that can support clinicians with limited experience in lipodystrophy syndromes. Methods: The Rapid Action Plan was developed using insights gathered through a series of advisory meetings with clinical experts in lipodystrophy syndromes. A skeleton template was used to facilitate interviews. A consensus document was developed, reviewed, and approved by all experts. Results: Lipodystrophy is a clinical diagnosis. The Rapid Action Plan discusses tools that can help diagnose lipodystrophy syndromes. The roles of clinical and family history, physical exam, patient and family member photos, routine blood tests, leptin levels, skinfold measurements, imaging studies, and genetic testing are explored. Additional topics such as communicating the diagnosis to the patients/families and patient referrals are covered. A set of recommendations regarding screening and monitoring for metabolic diseases and end-organ abnormalities is presented. Finally, the treatment of lipodystrophy syndromes is reviewed. Discussion: The Rapid Action Plan may assist clinical teams with the prompt diagnosis and holistic work-up and management of patients with lipodystrophy syndromes, which may improve outcomes for patients with this rare disease.

Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Primary diseases of adipose tissue are rare disorders resulting from impairments in the physiological functions of adipose tissue (lipid stockage and endocrine function). It mainly refers to lipodystrophy syndromes with subcutaneous adipose tissue atrophy and/or altered body distribution of adipose tissue leading to insulin resistance, diabetes, hepatic steatosis, dyslipidemia, cardiovascular complications and polycystic ovary syndrome in women. Those syndromes are congenital or acquired, and lipoatrophy is partial or generalized. The diagnosis of lipodystrophy syndromes is often unrecognized, delayed and/or inaccurate, while it is of major importance to adapt investigations to search for specific comorbidities, in particular cardiovascular involvement, and set up multidisciplinary care, and in some cases specific treatment. Physicians have to recognize the clinical and biological elements allowing to establish the diagnosis. Lipodystrophic syndromes should be considered, notably, in patients with diabetes at a young age, with a normal or low BMI, negative pancreatic autoantibodies, presenting clinical signs of lipodystrophy and insulin resistance (acanthosis nigricans, hyperandrogenism, hepatic steatosis, high insulin doses). The association of diabetes and a family history of severe and/or early cardiovascular disease (coronary atherosclerosis, cardiomyopathy with rhythm and/or conduction disorders) may reveal Dunnigan syndrome, the most frequent form of familial lipodystrophy, due to LMNA pathogenic variants. Clinical assessment is primarily done through clinical examination: acanthosis nigricans, abnormal adipose tissue distribution, lipoatrophy, muscular hypertrophy, acromegaloid or Cushingoid features, lipomas, highly visible subcutaneous veins, may be revealing signs. The amount of circulating adipokines may reflect of adipose dysfunction with low leptinemia and adiponectinemia. Other biological metabolic parameters (hypertriglyceridemia, hyperinsulinemia, increased glycemia and hepatic enzymes) may also represent markers of insulin resistance. Quantification of total body fat by impedancemetry or dual-photon X-ray absorptiometry (DEXA) reveals decreased total body mass, in correlation with adipose tissue atrophy; metabolic magnetic resonance imaging can also quantify intraperitoneal and abdominal fat and the degree of hepatic steatosis. Histological analysis of adipose tissue showing structural abnormalities should be reserved for clinical research. Acquired lipodystrophic syndromes most often lead to similar clinical phenotype as congenital syndromes with generalized or partial lipoatrophy. The most frequent causes are old anti-HIV therapy or glucocorticoid treatments. Family history, history of treatments and clinical examination, including a careful physical examination, are keys for diagnosis.

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.

BACKGROUND: Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. OBJECTIVE: We aimed to evaluate the patients' age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care. PATIENTS AND METHODS: We analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, Banque Nationale de Données Maladies Rares). RESULTS: A cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, n = 124, including n = 67 FPLD2/Dunnigan Syndrome); Acquired lipodystrophy syndromes (n = 98, with n = 13 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (n = 27, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (n = 18, CGL) and other rare severe insulin-resistance syndromes (n = 25). The median age at referral was 47.6 years [IQR: 31-60], ranging from 25.2 (CGL) to 62.2 years old (LB). The median age at first symptoms of 27.6 years old [IQR: 16.8-42.0]) and the median diagnostic delay of 6.4 years [IQR: 1.3-19.5] varied among diagnostic groups. The gender-specific expression of lipodystrophy is well-illustrated in the FPLD2 group (91% of women), presenting with first signs at 19.3 years [IQR: 14.4-27.8] with a diagnostic delay of 10.5 years [IQR: 1.8-27.0]. CONCLUSION: The national rare disease database provides an important tool for assessment of care pathways in patients with lipodystrophy and rare insulin-resistance syndromes in France. Improving knowledge to reduce diagnostic delay is an important objective of the PRISIS reference center.

Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.

BACKGROUND: Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences and challenges faced by physicians who have seen and treated patients with lipodystrophy. This study aimed to provide a better understanding of the physician's perspective regarding the patient journey in lipodystrophy, including diagnosis, the burden of disease, and treatment approaches. METHODS: Thirty-three physicians from six countries who had seen or treated patients with lipodystrophy were interviewed using a semi-structured questionnaire. Interviews were transcribed, anonymized, and analyzed for themes and trends. Four main themes were developed: (1) the diagnostic journey in lipodystrophy including the disease features or 'triggers' that result in the onward referral of patients to specialist medical centers with experience in managing lipodystrophy; (2) the impact of lipodystrophy on patient quality of life (QoL); (3) the use of standard therapies and leptin replacement therapy (metreleptin) in lipodystrophy, and (4) barriers to metreleptin use. RESULTS: Participants reported that, due to their rarity and phenotypic heterogeneity, lipodystrophy cases are frequently unrecognized, leading to delays in diagnosis and medical intervention. Early consultation with multidisciplinary specialist medical teams was recommended for suspected lipodystrophy cases. The development and progression of metabolic complications were identified as key triggers for the referral of patients to specialist centers for follow-up care. Participants emphasized the impact of lipodystrophy on patient QoL, including effects on mental health and self-image. Although participants routinely used standard medical therapies to treat specific metabolic complications associated with lipodystrophy, it was acknowledged that metreleptin was typically required in patients with congenital generalized lipodystrophy and in some acquired generalized and partial lipodystrophy cases. A lack of experience among some participants and restrictions to access remained as barriers to metreleptin use. CONCLUSIONS: To our knowledge, this is one of the first studies describing the qualitative experiences of physicians regarding the diagnosis and management of lipodystrophy. Other physician-centered studies may help increase the awareness of lipodystrophy among the wider medical community and support clinical approaches to this rare disease.

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.

OBJECTIVE: Underdiagnosis is an important issue in genetic lipodystrophies, which are rare diseases with metabolic, cardiovascular, gynecological, and psychological complications. We aimed to characterize the diagnostic pathway in these diseases from the patients' perspective. DESIGN: Cross-sectional study conducted through a self-reported patient questionnaire. METHODS: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity. Patients completed a self-reported questionnaire on disease symptoms, steps leading to the diagnosis, and healthcare professionals involved. Descriptive analyses were conducted. RESULTS: Out of 175 eligible patients, 109 patients (84% women) were included; 93 had partial familial lipodystrophy and 16 congenital generalized lipodystrophy. Metabolic comorbidities (diabetes 68%, hypertriglyceridemia 66%, hepatic steatosis 57%), cardiovascular (hypertension 54%), and gynecologic complications (irregular menstruation 60%) were frequently reported. Median age at diagnosis was 30 years (interquartile range [IQR] 23-47). The overall diagnostic process was perceived as "very difficult" for many patients. It extended over 12 years (IQR 5-25) with more than five different physicians consulted by 36% of respondents, before diagnosis, for lipodystrophy-related symptoms. The endocrinologist made the diagnosis for 77% of the patients. Changes in morphotype were reported as the first symptoms by the majority of respondents. CONCLUSIONS: Diagnostic pathway in patients with genetic lipodystrophy is rendered difficult by the multisystemic features of the disease and the lack of knowledge of non-specialized physicians. Training physicians to systematically include adipose tissue examination in routine clinical evaluation should improve diagnosis and management of lipodystrophy and lipodystrophy-associated comorbidities.

Partial lipodystrophy: Clinical presentation and treatment.

Lipodystrophic syndromes are acquired or genetic rare diseases, characterized by a generalized or partial lack of adipose tissue leading to metabolic alterations linked to strong insulin resistance. They are probably underdiagnosed, especially for partial forms. They are characterized by a lack of adipose tissue or a lack of adipose development leading to metabolic disorders associated with often severe insulin resistance, hypertriglyceridemia and hepatic steatosis. In partial forms of lipodystrophy, these mechanisms are aggravated by excess visceral adipose tissue and/or subcutaneous adipose tissue in the upper part of the body. Diagnosis is based on clinical examination, pathological context and comorbidities, and on results of metabolic investigations and genetic analyses, which together determine management and genetic counseling. Early lifestyle and dietary measures focusing on regular physical activity, and balanced diet avoiding excess energy intake are crucial. They are accompanied by multidisciplinary follow-up adapted to each clinical form. When standard treatments have failed to control metabolic disorders, the orphan drug metreleptin, an analog of leptin, can be effective in certain forms of lipodystrophy syndromes.

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.

BACKGROUND: Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia. METHODOLOGY:  We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia. RESULT: Eight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient. CONCLUSION:  Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.

Dermolipectomía por lipodistrofia abdominal grave en obesidad mórbida / Dermolipectomy for severe abdominal lipodystrophy in morbid obesity

RESUMEN La obesidad y el sobrepeso se definen como una acumulación anormal o excesiva de grasa que puede ser perjudicial para la salud. Es una enfermedad crónica de origen multifactorial, que como consecuencia ocasiona problemas higiénicos, discapacidad funcional y alteración de la calidad de vida. La dermolipectomía abdominal es una técnica quirúrgica que constituye la única opción para el tratamiento de pacientes con panículo adiposo prominente; de esa forma se logra disminuir las complicaciones y se reintegra socialmente al paciente que, a causa del enorme faldón abdominal, estuvo limitado por muchos años. Presentamos el caso de una paciente de 53 años con lipodistrofia abdominal grave, que llegaba a ambos tobillos con afectación cutánea, y discapacidad para realizar actividades diarias, resuelta con dermolipectomía abdominal y resección de 29 kg de tejido dermograso. Se realizará, además, una revisión bibliográfica del tema.

ABSTRACT Overweight and obesity are defined as abnormal or excessive fat accumulation that presents a risk to health. It is a chronic disease caused by multiple factors, which results in hygienic issues, functional disability and impaired quality of life. Abdominal dermolipectomy is the only surgical option for the treatment of patients with prominent panniculus morbidus, thus reducing complications and providing social reintegration for the patient who has been limited for many years due to the enormous abdominal panniculus. We report the case of a 53-year-old female patient with severe abdominal lipodystrophy with coverage of both ankles, skin involvement, and disability to perform daily activities, that was managed with abdominal dermolipectomy and resection of 29 kg of dermo-adipose tissue. Bibliographic research is also presented.

Targeted massively parallel sequencing for congenital generalized lipodystrophy

ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the Illumina MiSeq, and bioinformatics analysis was performed. Results: An accurate genetic diagnosis was stated for all nine patients. Four had pathogenic variants in AGPAT2 and three in BSCL2. Three large homozygous deletions in AGPAT2 were identified by copy-number variant analysis. Conclusions: Although we have found allelic variants in only 2 genes related to CGL, the panel was able to identify different variants including deletions that would have been missed by Sanger sequencing. We believe that MPS is a valuable tool for the genetic diagnosis of multi-genes related diseases, including CGL.

Lipodistrofias primarias: presentación clínica y diagnóstico / Clinical presentation and treatment of primary lipodystrophies

Lipodystrophies are a heterogeneous group of syndromes defined by a severe reduction of the adipose tissue. These can be congenital or acquired. Anatomically, they can be partial or generalized. The etiology of several lipodystrophies is well known. However, the cause of many others remains unknown. The commonest lipodystrophy worldwide is secondary to highly active anti-retroviral therapy in HIV-infected patients. By contrast, primary lipodystrophies (those not associated to any known disease or condition) are much less common and represent a diagnostic challenge. The major complications of lipodystrophies are metabolic, often resulting in severe insulin resistance, diabetes and dyslipidemia. No cure is available for lipodystrophies but the supplementation with recombinant leptin potently controls the metabolic abnormalities when there is a leptin deficiency. Herein, we review the clinical presentation, diagnostic process and therapeutic principles of the main primary lipodystrophy syndromes.

Hemangioma de crecimiento mínimo o detenido con lipoatrofia: presentación de un caso clínico / Hemangioma with minimal or arrested growth

Los hemangiomas de la infancia (HI) son tumo-res vasculares que presentan un patrón evolutivo característico. Existe un subgrupo de HI que pre-senta un tipo de crecimiento distinto denominados hemangiomas de la infancia con crecimiento míni-mo o detenido (HI-CMD). En estos, el componen-te proliferativo no supera el 25% de la superficie total; además, afecta a niños de al menos dos meses de edad en la consulta inicial o a niños menores de dicha edad en los que se realiza un seguimiento mayor a 2 meses. Los HI- CMD con lipoatrofia son una variante poco frecuente de HI de la cual exis-ten escasos reportes en la literatura. El objetivo de nuestro trabajo es presentar un caso de HI-CMD con lipoatrofia en una lactante. Los HI-CMD presentan un desafío diagnóstico ya que deben ser reconocidos precozmente y diferencia-dos de otras lesiones vasculares.

Infantile hemangiomas (IH) are vascular tumors that present a characteristic evolutive pattern. There is a subgroup of hemangiomas that pre-sents a different type of growth called infantile hemangiomas with minimal or arrested growth (IH-MAG). In these, the proliferative component does not exceed 25% of the total surface; it also affects children of at least two months of age in the initial consultation or children under that age in which a follow-up of more than 2 months is carried out. IH-MAG with lipoatrophy is a rare variant of IH of which there are few reports in the literature.The aim of our report is to present a case of IH-MAG with lipoatrophy in an infant. IH-MAGs present a diagnostic challenge since they must be recognized early, and differentiated from other vascular lesions.

Prevalencia de factores de riesgo de enfermedad cardiovascular en niños y adolescentes con infección por HIV / Prevalence of risk factors for cardiovascular disease in HIV-infected children and adolescents

Introducción: La exposición prolongada a las drogas en el tratamiento antirretroviral de alta eficacia (HAART) cambió el pronóstico de la enfermedad pero puede generar alteraciones metabólicas y lipodistrofia que aumentan el riesgo de enfermedad cardiovascular precoz (ECVP). En la población pediátrica infectada con HIV los estudios son escasos y las medidas para disminuir el riesgo de ECVP no han sido definidas. Objetivo: investigar la prevalencia de factores de riesgo de ECVP en niños y adolescentes con infección crónica por HIV en un hospital pediátrico de alta complejidad. Material y Métodos: estudio descriptivo, prospectivo, controlado, de corte transversal. Se incluyeron niños con infección vertical por HIV, edad entre 2 y 18 años estratificados según esquema de tratamiento antirretroviral recibido (con y sin Inhibidores de la Proteasa-IP-) y controles seronegativos. Se realizó antropometría, impedanciometría bioeléctrica (BIA)y ecodoppler carotídeo. Se dosó glucemia basal, insulina basal, perfil lipídico, TGO, TGP, recuento de leucocitos y plaquetas, linfocitos TCD4+ y TCD8+, carga viral, proteína C Reactiva cuantitativa de alta sensibilidad. Se consideraron pacientes con riesgo de ECVP a los que presentaron: obesidad, hipertensión arterial, intolerancia a la glucosa/ diabetes, resistencia a la insulina, dislipemia, aumento de proteína C reactiva (PCR) o aumento del grosor arterial. Resultados: Ambos grupos HIV+ presentaron un escore Z para peso, talla y BMI significativamente menor que el grupo control., mientras que la frecuencia de aparición del índice Cintura/Talla con valores patológicos fue significativamente mayor en el grupo HIV+. Utilizando el método clínico de Carr el 18% de los pacientes HIV+ presentaba lipodistrofia, la mayoría de los cuales tenían hipertrigliceridemia. El grupo HIV+ presento un% de masa grasa (MG) mayor y un% de masa libre de grasa (MLG) y masa celular menor que el grupo control medido por BIA. Se constató alta prevalencia de dislipidemia en el grupo HIV+ con niveles medios más altos de Colesterol total, c-LDL, y TG que el grupo control, que fue significativamente mayor en los pacientes expuestos a IP con valores más elevados de colesterol total y c-LDL y mayor frecuencia de alteración del índice CT/HDL y significativamente mayor en el grupo expuesto a IP. No se encontraron diferencias de los niveles medios de glucemia en ayunas, insulina basal ni resistencia a la insulina evaluada por HOMA. En el subgrupo HIV+ estudiado se observó un aumento del espesor de la íntima media carotidea. Conclusión: En un grupo de niños y adolescentes infectados verticalmente por HIV bajo TARV de alta eficacia el peso, talla,% de MLG y MC fue significativamente menor y el% de MG mayor que el grupo control. La alta prevalencia de dislipidemia encontrada en el grupo HIV+, particularmente en aquellos expuestos a IP y el indice Cintura/Talla constituyen factores que aumentarían el riesgo de desarrollar enfermedad cardiovascular precoz (AU)

Introduction: Long-term drug exposure using highly active antirretroviral therapy (HAART) has changed disease prognosis in HIV-infected patients, but may cause metabolic alterations and lipodystrophy increasing the risk of early cardiovascular disease (ECVD). Studies in the population of HIV-infected children are scarce and measures to reduce the risk of ECVD have not been defined. Aim: To investigate the prevalence of risk factors for ECVD in children and adolescents with a chronic HIV-infection in a tertiary pediatric. Material and Methods: A descriptive, prospective, controlled cross-sectional study was conducted. Children with a mother-to-child HIV infection between 2 and 18 years of age, stratified according to HAART regimen received (with or without protease inhibitors (PI)) and seronegative controls were included. Anthropometry, bioelectrical impedance analysis (BIA), and carotid ultrasonography were performed. Baseline glycemia and insulin, lipid profile, ALT, AST, leukocyte and platelet counts, TCD4+ and TCD8+ lymphocytes, viral load, and high-sensitivity quantitative C-reactive protein (CRP) were measured. Patients were considered at high risk for ECVD when they had: obesity, arterial hypertension, glucose intolerance/diabetes, insulin resistance, dyslipidemia, increased CRP, or increased intima-media thickness. Results: Both HIV+ groups presented with significantly lower Z-scores for weight, height, and BMI than the control group, while the prevalence of pathological measures of waist-to-height index was significantly higher in the HIV+ group. Using the clinical method of Carr, 18% of the HIV+ patients presented with lipodistrophy, the majority of whom had hypertriglyceridemia. The HIV+ group had a higher percentage of fat mass (FM) and a lower percentage of fat-free mass (FFM) and cell mass (CM) than the control group measured by BIA. A high prevalence of dyslipidemia was found in the HIV+ group with higher mean total cholesterol, LDLcholesterol, and TG levels than in the control group. This prevalence was significantly higher in patients receiving PI, with increased levels of total cholesterol and LDL-cholesterol and a higher rate of alteration of the total cholesterol/HDL ratio. No differences were found in mean fasting glycemia, baseline insulin, or insulin resistance levels assessed using HOMA. In the HIV+ PI subgroup, increased carotid intima-media thickness was observed. Conclusion: In a group of vertically HIV-infected children on HAART, weight, height, percentage of FFM and CM were significantly lower and percentage of FM was significantly higher than in the control group. The high prevalence of dyslipidemia found in the HIV+ group, particularly in those exposed to PI, as well as the higher waist-to-height index increase the risk of developing ECVD (AU)

Lipoatrofia semicircular, una visión general a una patología laboral emergente en Chile / Semicircular lipatrophy, an overview of emerging labor pathology in Chile

La Lipoatrofia Semicircular (LS) es una enfermedad idiopática, que se caracteriza por una atrofia reversible y localizada, ya sea total o parcial, del tejido adiposo subcutáneo y que se ubica en zonas de contacto de la piel de las extremidades con el inmobiliario. Se caracteriza por presentarse en brotes endémicos, cuyo único factor en común es el lugar de trabajo. Sus causas son desconocidas, pero en la actualidad se proponen factores asociados como: el contacto de la zona afectada con inmobiliario, presencia de radiación electromagnética, presencia de descargas electroestáticas y humedad ambiental relativa baja. Un modelo actual para explicar la patogenia de esta enfermedad involucra la participación de descargas electrostáticas, que probablemente activarían la liberación de factor de necrosis tumoral a (TNF-a) y desencadenaría la fagocitosis de adipocitos. Actualmente no tiene un tratamiento médico, siendo las medidas preventivas de mitigación de los factores previamente mencionados las que producen una reversión de la lesión. Por otro lado, la presencia de estos brotes generan un gran impacto mediático por lo que también debe ser abordada comunicacionalmente. La presente revisión pretende sintetizar la literatura sobre el tema para exponer el conocimiento actual y lograr una noción de esta nueva enfermedad, tras su primera presentación en brote en nuestro país.

Lipoatrophia semicircularis (LS) (also known as "Semicircular lipoa-trophy") is an idiopathic disease, which is characterized by a reversible and localized atrophy, either total or partial, of subcutaneous adipose tissue and located in areas of skin contact with the real estate tips. It is characterized by appearing in endemic outbreaks whose only common factor is the workplace. Its causes are unknown, but currently associated factors have been proposed, such as: the contact area with the office furniture, the presence of electromagnetic radiation, electrostatic discharge and presence of low relative humidity. A current model to explain the pathogenesis of this disease involves the participation of electrostatic discharges, which probably activate the release of tumor necrosis factor a (TNF-a) and it would trigger phagocytosis of adipocytes. Currently there is no medical treatment, being proactive mitigation measures of the before mentioned factors, those that produce a reversion of the injury. On the other hand, the presence of these buds generates great media impact so it must be also addressed from a communication standpoint. The present review aims to summarize the literature on the subject to present current knowledge and achieve a notion of this new disease, after its first appearance in outbreak in our country.

Você conhece esta síndrome? / Do you know this syndrome?

A síndrome de Barraquer-Simons, também denominada lipodistrofia parcial progressiva ou lipodistrofia céfalo-torácica, caracteriza-se por perda progressiva do tecido celular subcutâneo, em direção crânio-caudal, de modo simétrico, iniciando na face e envolvendo progressivamente o tronco, membros superiores e inferiores, até as coxas. Nesse trabalho, relata-se o caso de paciente, com síndrome de Barraquer-Simons, sem associação com comorbidades sistêmicas.

Barraquer-Simons syndrome, also called acquired partial lipodystrophy or cephalothoracic lipodystrophy, is a rare form of progressive lipodystrophy, characterized by symmetrical lipoatrophy of subcutaneous adipose tissue starting in the head and spreading to the thorax, upper and lower limbs and thighs. In this work, we report the case of a patient with Barraquer-Simons syndrome without systemic complications.

Envolvimento cardíaco na lipodistrofia total generalizada (síndrome de Berardinelli-Seip) / Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)

Total generalized lipodystrophy (Berardinelli--Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli--Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.

Alteraçõs cardiovasculares e metabólicas da lipodistrofia generalizada congênita (Síndrome de Seip-Berardinelli / Cardiovascular and metabolic aspects of congenital generalized lipodystrophy (Seip-Berardinelli Syndrome)

A lipodistrofia é uma doença bem pouco estudada pela comunidade médica nacional e internacional. O surgimento de lesões do tipo de lipodistrofia adquirida associada ao uso de terapia retroviral nos portadores de HIV tem despertado maior interesse pela investigação nesta área. O objetivo deste artigo de atualização é descrever os aspectos cardiovasculares que acometem uma classe de pacientes portadores da forma de lipodistrofia generalizada congenita (LGC) também denominada de sindrome de Seip-Berardinelli. Inicialmente serão enfatizados os tipos conhecidos de lipodistrofias para, que em seguida, ser apresentado os relatos de casos encontrados na literatura, desde 1885 ate os dias atuais. As anormalidades cardiovasculares nos portadores desta sindrome são frequentes, sendo observada a presença de hipertensão arterial sistêmica, hipertrofia ventricular esquerda, cardiomiopatia hipertrófica e cardiomiopatia dilatada. Diabetes mellitus, hiperglicemia e hipertrigliceridemia também são ferquentes.

Lipodistrofia membranosa do osso (doença de Nasu-Hakola): caso clínico / Membranous lipodystrophy of the bone (Nasu-Hakola disease): a clinical case

Os autores descrevem um caso de lipodistrofia membranosa em doença de Nasu-Hakola que foi confundida com outra patologia durante 12 anos. Trata-se de entidade muito rara, em que há comprometimento simétrico de várias regiöes do esqueleto, que enseja inúmeras fraturas patológicas. O quadro evolui para graves transtornos psiquiátricos e neurológicos que predispöem inexoravelmente à morte na meia idade