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 identi...

A 68-year-old lady was admitted with constipation, epigastric pain, vomiting, occasional coffee ground emesis and melena. She had no chest pain, osmotic symptoms or weight changes. Past medical history was significant for peptic ulcer disease and she was not taking any medications apart from over the counter cod liver oil. She did not have diabetes or cardiovascular risk factors. Her sister had type 1 diabetes. Examination was remarkable for dehydration, mild tachycardia and m...

Background: Pleuro-pulmonary inflammatory fibrotic syndrome is a rare but recognised complication of dopamine agonist (DA) therapy in Parkinson’s disease. Here, we describe a case of asymptomatic pulmonary fibrosis, presumed secondary to DA therapy, in a patient treated with cabergoline for an invasive macroprolactinoma.Case report: A 47-year-old previously fit man was admitted as an emergency with a 3 days history of headache followed by collapse. ...

Introduction: Familial Partial Lipodystrophy Type 1 (FPLD1) is characterised by loss of gluteal and limb subcutaneous fat and increased abdominal fat. The genetic basis is currently unknown. FPLD1 is frequently associated with metabolic problems including diabetes, insulin resistance, dyslipidaemia and non-alcoholic fatty liver disease. Despite central adiposity and severe metabolic abnormalities, this group of patients often do not qualify for NHS funding for bariatric surger...

Introduction: The prevalence of non-alcoholic fatty liver disease (NAFLD) is greatly increased in patients with lipodystrophy and some other forms of severe insulin resistance. Liver biopsy remains the definitive technique for diagnosis and staging of NAFLD. However, non-invasive techniques, such as magnetic resonance spectroscopy (MRS) and magnetic resonance imaging (MRI) are increasingly used to assess response to therapeutic interventions. The National Severe Insulin Resist...

Introduction: Immune mediated cases of severe insulin resistant diabetes are very rare. We report responses to immunosuppression with rituximab in two patients.Case 1: A 31 year old black African female, BMI 22.84 kg/m², was referred with new onset diabetes, diagnosed shortly following a miscarriage. She had weight loss, acanthosis nigricans, nocturnal hypoglycaemia and severe hyperandrogenism . She was on an insulin pump and required >1000 units in...

Introduction: Graves’ disease during pregnancy may cause maternal or neonatal complications, including arrhythmia, thyroid storm, congenital anomalies and neonatal thyroid dysfunction (TD). The optimal timing and frequency of TRAb measurement in pregnant women with a history of TD, and whether fetal monitoring could be limited to those with a strongly positive TRAb, is unclear.Methods: Retrospective case note review of women with elevated TRAb (>1 i...

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...