Lipodystrophy : focus on HIV Lipodystrophy

Lipodystrophy is a rare condition which can be inherited or acquired, localised or generalised. It is characterised by abnormal adipose tissue distribution and in some cases underlying metabolic derangement, including diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries and acanthosis nigricans. Today, most cases of lipodystrophy are associated with human immunodeficiency virus (HIV). This article gives a review of the possible mechanisms associated with HIV lipodystrophy, namely HIV infection itself, genetic susceptibility to HIV lipodystrophy and effects of treatment with highly active antiretroviral therapy (HAART). Treating HIV lipodystrophy is challenging. The various treatment options currently available for treating lipodystrophy are reviewed.peer-reviewe

Stroke patients' interpretation of symptoms and presentation to hospital

The aim of this study was to elucidate patient interpretation of stroke symptoms and to investigate factors which influence timely presentation to hospital. Methods: All patients admitted to Mater Dei Hospital with a diagnosis of cerebrovascular accident (CVA) or transient ischaemic attack (TIA) between July and September 2011 were recruited prospectively. Data was collected by patient interview and with reference to medical notes in order to determine patient risk factors for stroke, knowledge on stroke, interpretation of stroke symptoms and time interval to presentation to hospital. Results: The cohort studied (N=54) had an average age of 67.9 years (SD=10.407). The risk factors for cerebrovascular disease most frequently found in this group were hypertension (56\%), hypercholesterolaemia (56%), family history of stroke (41%) and smoking (39%). Participants interpreted their symptoms as stroke in 33% of cases (n=18), whereas 48% reported that they did not know or suspect any particular cause at the time. The perceived severity of events at symptom onset was reported as ‘high’ by 41% and ‘low’ by 57%. Only 31\% of participants (n=17) recognised the brain as the organ primarily affected in stroke. Forty five percent of patients sought medical advice within one hour. Fifty-six percent (n=30) first resorted to their family doctor, whilst 28% (n=15) phoned the emergency services. Family doctor as first contact was associated with delayed presentation (p = 0.007); conversely, phoning emergency services was associated with earlier presentation to A\&E. Conclusion: The results of this study highlight limited knowledge about stroke in the population involved. It also serves to clarify factors contributing to high rates of late presentation. These findings show the need for an improvement in public awareness in terms of education on stroke and the importance of early presentation to hospital.peer-reviewe

An analysis of craniopharyngioma patients in Malta : epidemiology, patient characterisation and long-term sequelae

BACKGROUND: Despite being benign, craniopharyngiomas are challenging tumours to manage and can cause significant morbidity and mortality in both the paediatric and adult population.METHOD: Our aim was to analyse epidemiology, patient characteristics and long-term sequalae through a population-based study in Malta. A thorough research was carried out to identify patients who were diagnosed with craniopharyngioma in our local population. Subjects were identified from various hospital databases. Presenting features, patient and tumour characteristics, treatment modalities, long-term sequelae and epidemiology were analysed.RESULTS: From a cohort of 29 patients, 62.1% were male. The mean age at presentation was 32.4 years (s.d. ± 19.0). 11 patients (37.9%) were diagnosed with childhood onset craniopharyngioma (age at presentation < 20 years) whilst 18 patients (62.1%) had adult-onset craniopharyngioma. Median follow up period since time of diagnosis was 13.0 years (IQR 5–25). For incidence estimates, 13 patients who were diagnosed between June 2008 and June 2019 were included. The background population formed 4.8 million patient-years at risk. The overall SIR was 3.0/1,000,000/year, with the highest SIR in the 10–19 year age group. The estimated prevalence rate was 52.7/1,000,000 people, with lower prevalence rates for childhood- compared to adult-onset (20.3/1,000,000 vs 32.4/1,000,000 people). Visual disturbances and symptoms secondary to raised intracranial pressure were the commonest presenting complaints. Most tumours were multi-cystic (42.9%) and were commonly located in the intrasellar region with suprasellar extension. The median longest tumour diameter was 31.0 mm (IQR 21–41), with statistically significant difference between childhood- and adult-onset disease; 43.0 mm (IQR 42.5–47.25) vs 27.0 mm (IQR 20.55–31.55) (P = 0.011). All 24 patients who underwent neurosurgical intervention (82.8%) had adamantinomatous craniopharyngioma. 58.6% of patients required radiotherapy. The commonest long-term sequalae were hormone deficiencies (93.1%), followed by obesity (20.7%). Most patients required hormonal supplementation of more than one pituitary axis. 7 patients (30.4%) had evidence of tumour regrowth or recurrence during follow-up. 3 patients passed away throughout their follow up.CONCLUSION: From a cohort of 29 patients, 62.1% were male. The mean age at presentation was 32.4 years (s.d. ± 19.0). 11 patients (37.9%) were diagnosed with childhood onset craniopharyngioma (age at presentation < 20 years) whilst 18 patients (62.1%) had adult-onset craniopharyngioma. Median follow up period since time of diagnosis was 13.0 years (IQR 5–25). For incidence estimates, 13 patients who were diagnosed between June 2008 and June 2019 were included. The background population formed 4.8 million patient-years at risk. The overall SIR was 3.0/1,000,000/year, with the highest SIR in the 10–19 year age group. The estimated prevalence rate was 52.7/1,000,000 people, with lower prevalence rates for childhood- compared to adult-onset (20.3/1,000,000 vs 32.4/1,000,000 people). Visual disturbances and symptoms secondary to raised intracranial pressure were the commonest presenting complaints. Most tumours were multi-cystic (42.9%) and were commonly located in the intrasellar region with suprasellar extension. The median longest tumour diameter was 31.0 mm (IQR 21–41), with statistically significant difference between childhood- and adult-onset disease; 43.0 mm (IQR 42.5–47.25) vs 27.0 mm (IQR 20.55–31.55) (P = 0.011). All 24 patients who underwent neurosurgical intervention (82.8%) had adamantinomatous craniopharyngioma. 58.6% of patients required radiotherapy. The commonest long-term sequalae were hormone deficiencies (93.1%), followed by obesity (20.7%). Most patients required hormonal supplementation of more than one pituitary axis. 7 patients (30.4%) had evidence of tumour regrowth or recurrence during follow-up. 3 patients passed away throughout their follow up.peer-reviewe

Society for Endocrinology Endocrine Update 2018

Water balance disorders following neurosurgery are well recognised and may give rise to both hypo- and hypernatraemia. We present the case of a 42-year-old male who developed a triphasic response after extended transsphenoidal surgery for a pituitary stalk lesion. The patient presented with a 4 month history of unremitting frontal headaches and dizziness. MRI confirmed a 15×15 mm stalk lesion. Clinical examination including formal visual perimetry was unremarkable. Blood tests revealed primary hypothyroidism but were otherwise normal. His past medical history included hypertension and alcoholism. He was referred to the UK where he underwent extended transsphenoidal surgery. In the immediate postoperative period, he developed polyuria (670 ml/h) and polydipsia (500 ml/h) which led to a negative fluid balance (of 2 L over 12 hours), serum sodium of 142 mmol/l, high serum osmolality of 299 mOsmol/kg and low urine osmolality of 131. The patient was normoglycaemic and did not receive any diuretics. Desmopressin (initally subcutaneous then desmotabs) reduced the polyuria and, together with intravenous fluids (2 L of 5% dextrose/day between days 1 and 2) and ad libitum drinking, restored normonatraemia. Hydrocortisone 10-5-5 mg was started on the 6th postoperative day in view of a morning cortisol of 25 nmol/l. On the 7th day post-op he developed severe SIADH with a serum sodium of 120 mmol/l, which was managed conservatively with fluid restriction (1.5 l/day). He was clinically euvolaemic, with normal kidney function (creatinine 53 Umol/l). Despite fluid restriction, fluid intake exceeded urine output (19 ml/h) producing a positive fluid balance of +1.5 l and a further fall in serum sodium to 119 mmol/l. Here the patient complained of headaches, unsteadiness and lethargy but no confusion or seizures. On day 12 the patient redeveloped polyuria (250 ml/hour) for which desmotabs 100mcgs daily were started. In anticipation of a triphasic response he was continued on ad libitum fluid intake and desmopressin was further increased to 100–200 mcgs as the patient was still waking up hourly to micturate. He was advised to omit one dose a week to allow excess water to be offloaded. On the 13th postoperative day he developed a serum sodium of 138 mmol/l, serum osmolality 299 mOsm/kg and urine osmolality of 79 mOsm/kg. Histology confirmed a pituicytoma (WHO grade 1); Ki-67 <1%.peer-reviewe