Endocrine Abstracts

Lipodystrophy is a group of rare disorders characterized by complete or partial loss of adipose tissue. Lipodystrophy can be inherited or acquired and may present in childhood or in adults. Metabolic sequelae of lipodystrophy include severe insulin resistance (SIR), type 2 diabetes, hypertriglyceridaemia, hepatic steatosis and hyperandrogenism. Research in our centre has produced a database of several hundred patients with lipodystrophy and/or SIR and has contributed to identification of several novel genetic syndromes of SIR. We have also recently established integrated biochemical and genetic diagnostic algorithms for patients with SIR. In April 2011 this was recognised through commissioning of a national multidisciplinary NHS service for patients from England with lipodystrophy and/or SIR by the National Specialist Commissioning Team (NSCT). The National SIR Service aims to provide diagnostic, therapeutic and educational support for patients with lipodystrophy and/or SIR, and to establish and disseminate evidence-based recommendations for their clinical management. The service is based at Addenbrooke’s Hospital, Cambridge. We review patients at a weekly multidisciplinary clinic with a Consultant Physician, Consultant Paediatrician, Specialist Diabetes Nurse and Dietitian. Individualised dietary management is a key component. For selected patients treatment with agents such as leptin, GLP-1 agonists, Humulin R U500 insulin and rhIGF1 is supervised directly. Close contact is maintained with local specialists and primary carers. The service accepts referral of patients from England with one) Clinically diagnosed lipodystrophy (generalised or partial), two) Clinical suspicion of insulin receptor defects, from neonatal Donohue Syndrome to adult type A insulin resistance and three) Unexplained SIR with BMI <30 kg/m² and acanthosis nigricans and/or severe hyperinsulinaemia. In conclusion, the National Severe Insulin Resistance Service is a new NSCT-funded multidisciplinary service aiming to improve management and clinical outcomes for patients with lipodystrophy and/or SIR. Current management strategies for patients with lipodystrophy will be discussed.

Declaration of funding

The National Severe Insulin Resistance service is centrally funded through the NHS National Specialised Services Team (NSCT).