Specialist national service for severe insulin resistance
Healthcare professionals in England are being encouraged to refer people with diabetes who have severe insulin resistance and/or lipodystrophy to a specialist service based at Addenbrooke’s Hospital, Cambridge England that does not charge for referrals.
The National Severe Insulin Resistance Service provides a multidisciplinary NHS service for both adults and children and is funded by NHS England and there is no charge to referring teams. The service includes a team of consultants, specialist nurses and dieticians and conducts a weekly outpatient clinic and multidisciplinary team meeting. There is onsite access to genetic screening, specialised biochemical assays and specialised radiology including liver MRI/S. In addition, there is access to funded treatment options including leptin, GLP1 agonists, U500 insulin and IGF-I in selected patients.
The service is targeted at patients with lipodystrophy and severe insulin resistance. Referral criteria are:
- Donohue Syndrome or Rabson Mendenhall Syndrome with confirmed extreme hyperinsulinaemia
- Clinically diagnosed lipodystrophy (generalised or partial)
- Unexplained severe insulin resistance with: BMI<30kg/m2 (BMI Z score <=+3 in children) and acanthosis nigricans and/or severe hyperinsulinaemia.
· Donohue and Rabson Mendenhall Syndrome: present in infancy and early childhood and are associated with well described clinical phenotypes secondary to mutations in the insulin receptor. Milder insulin signalling disorders may present later in childhood or adolescence with clinical features of insulin resistance such as acanthosis nigricans or clinical hyperandrogenism in girls. Alternatively they may present with type 2 diabetes, with very high insulin concentrations. A proportion of these children will have identifiable mutations in the insulin receptor.
· Lipodystrophy: refers to a disruption of the body’s normal ability to store excess energy as fat. It may be congenital or acquired, and can be generalised (affecting all fat stores) or partial, affecting limited areas. There is often associated hyperphagia. The clinical manifestation of partial lipodystrophy is often more marked in girls and may present with oligomenorrhea and features of clinical hyperandrogenism around puberty.
· National Severe Insulin Resistance Service details at https://www.cuh.nhs.uk/national-severe-insulin-resistance-service/information-for-referring-clinicians