From Barraquer-Simons syndrome to treatment perspectives for obesity and diabetes mellitus – a case report

Abstract

Introduction: Barraquer-Simons syndrome, also called acquired partial lipodystrophy (APL), is a rare form of progressive lipodystrophy with no more than 255 cases reported so far. Case report: We present a 68-year old female, diagnosed with situs inversus totalis at 7 and nodular goiter at 14 years old. One year later, due to progressive loss of subcutaneous fat in the upper part of the body, facial fat atrophy and pseudohypertrophy of the muscular mass, she was diagnosed with Barraquer-Simons syndrome. She is associating numerous metabolic (diabetes mellitus, hypertriglyceridemia, hepatic steatosis), cardiac (high blood pressure, ischemic coronary disease with stable angina pectoris and heart failure class III NYHA) and immuno-rheumatological (polymyositis, rheumatoid arthritis with osteoporosis) comorbidities. Discussion: Studying similar cases, scientists have observed that patients with APL have metabolic diseases such as severe insulin resistance, dyslipidemia, hepatic steatosis, which are also common for obese patients. This correlation has led to a shift in the current thinking about metabolic disease from a ‘glucocentric’ towards a more ‘lipocentric’ view, with fat perceived as an essential organ in the metabolic homeostasis maintenance. Therefore, the adipocyte hormones as leptin or adiponectine have become targets in the new treatments of diabetes and obesity. Conclusion: The study of rare diseases has brought valuable therapy perspectives such as Trodusquemine (an enzime that regulates insulin and leptin signaling pathways), AdipoRon (adiponectine receptors agonists) and fat transplantation. If they pass the clinical trials, they might be considered a therapeutic approach for our patient in the future.