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Hypothalamic Obesity In Humans Christina Daousi Diabetes & Endocrinology University Hospital Aintree Liverpool [email protected] Monogenic obesity syndromes associated with hypothalamic dysfunction Prader-Willi syndrome Leptin/leptin receptor mutations POMC mutation Prohormone convertase-1 mutation Melanocortin-4 receptor mutation Hypothalamic Obesity Structural damage to hypothalamus - craniopharyngioma - meningioma - germ cell tumour - glioma - teratoma - pituitary adenomas with suprasellar extension - metastasis - aneurysm - surgery - radiotherapy/chemotherapy Pinkney JH et al. Obes Rev 2002; 3(1):27-34 Diabetes insipidus and blindness caused by a suprasellar tumour (1590) “…upon opening the skull I found a significant vesicle that had occupied the optic nerves close to their crossing, and when I cut it open half a pound of the clearest of watery material flowed out…” Idiopathic hypothalamic syndrome N=5 cases No tumoural or genetic alterations Obesity before 6 years old, compulsive eating, behavioural disturbances Breathing and thermoregulatory problems GHD, raised prolactin, hypogonadotropic hypogonadism, precocious puberty Water and electrolyte disturbances (?CDI) Reynaud R et al, Arch Pediatr. 2005 May;12(5):533-42 Definition: Acute increase in body weight following a clear hypothalamic insult. Weight gain faster than any expected agerelated increase in BMI. Other coexistent pituitary hormone deficiencies must be treated. How common is hypothalamic obesity in the paediatric population? Weight gain and obesity observed in 50-80% of children treated for craniopharyngioma. Amount of weight gain variable. Course of weight gain variable but most occurs within the first 6 months. Sequelae of HO Pituitary hormone deficiencies Poor sympatho-adrenal counter-regulation following insulin-induced hypoglycaemia (?adrenal medullary dysfunction) Reduced sympathetic metabolites in urine of obese children with cranios; those with most severe obesity displayed the lowest levels and also lower physical activity Roth CL et al, Pediatr Res. 2007 Apr;61(4):496-501 Sequelae of HO Longitudinal study on QOL in 102 survivors of childhood craniopharyngioma Long-term QOL negatively affected by obesity and associated with: Hypothalamic involvement Tumour progression Relapse Muller HL et al, Childs Nerv Syst. 2005 Nov;21(11):975-80 Sequelae of HO Cross-sectional study on 212 patients with childhood craniopharyngioma Hypothalamic involvement resulted in obesity and had major impact on functional capacity in survivors Muller HL et al, Klin Padiatr. 2003 Nov-Dec;215(6):310-4 Sequelae of HO NAFLD among patients with hypothalamic and pituitary dysfunction Mayo clinic, 21 cases Mean 6.4 years after Dx of hypothalamic dysfunction Yearly weight gain 2.2 units BMI 10 biopsies (6 cirrhosis, 2 NASH, 2 steatosis)-2 required liver Tx Adams LA et al, Hepatology. 2004 Apr;39(4):909-14 Sequelae of HO NAFLD & HO- further reports 16 years old female with NASH+ cirrhosis, Dx with cranio aged 5 18 years old male, Dx aged 10, NASH+fibrosis Nakajima K et al, J Gastroenterol. 2005 Mar;40(3):312-5 Sequelae of HO Daytime hypersomnolence Secondary narcolepsy may be a causative factor of increased daytime sleepiness in obese childhood craniopharyngioma patients (PSG) Muller HL, J Pediatr Endocrinol Metab. 2006 Apr;19 Suppl 1:423-9 Correlation with serum/CSF orexin-A levels not consistent ? Loss of hypothalamic hypocretin-secreting neurons Impaired melatonin secretion Muller HL et al, J Clin Endocrinol Metab. 2002 Aug;87(8):3993-6. How common is hypothalamic obesity in adults? After a median of 5 years of follow-up, 52% of patients with hypothalamic damage were obese compared with only 24 % at the time of diagnosis of their tumour. Distribution of BMI at diagnosis and latest follow up 50 45 40 35 30 25 20 15 10 5 0 % of patients at diagnosis % of patients at latest follow up BMI<25 25<BMI<30 30<BMI<35 35<BMI<40 BMI>40 Comparison with the general population: 90 % of general population 80 % of study patients 70 60 50 40 30 20 10 0 BMI>25 BMI>30 BMI>40 Neuroimaging size of tumour encroachment of pituitary tumours on optic chiasm invasion or compression of hypothalamic tissue abnormalities of 3rd ventricle breach of the infundibulum by the tumour infiltration of the thalamus or temporal lobes TREATMENT P-value Desmopressin Growth hormone Hydrocortisone Thyroxine Sex steroids Transphenoidal surgery Transfrontal surgery Radiotherapy VP shunt Conservative management Dopamine agonists 0.016 0.017 NS NS NS NS NS NS NS NS NS Findings from neuroimaging did not predict weight gain. Requirement for desmopressin (ADH) and growth hormone were the strongest predictors of current obesity and weight gain. Mechanisms giving rise to hypothalamic obesity Increased energy intake Hyperphagia Autonomic dysfunction vagally-mediated hyperinsulinaemia low resting metabolic rate Reduced voluntary energy expenditure Impaired gut-brain satiety signalling? 11-b-HSDH ? Hormone deficiencies GH, TSH, LH/FSH Pinkney JH et al. Obes Rev 2002; 3(1): Ghrelin, P-YY, insulin and leptin probably do not play a central role in the control of appetite and the pathogenesis of obesity in adults with hypothalamic damage. No differences in HRV, REE Impaired satiety may be an aetiological factor of obesity in this group. Sibutramine & Hypothalamic Obesity Double-blind, placebo-controlled, cross-over study (20 wks each) followed by 6 month open phase N = 50 (7-20 yrs old), 42 completed study HO (n=22) and cases of uncomplicated obesity plus aggravating syndromes (n=28) -0.70 BMI SDS (mean reduction) (P<0.001) Weight loss less pronounced in those with HO (partial resistance) Well tolerated and safe Danielsson P et al, J Clin Endocrinol Metab. 2007 Nov;92(11):4101-6 Octreotide randomized, double-blind, placebo-controlled trial of octreotide therapy for pediatric hypothalamic obesity N=18, 6 months Delta weight (mean +/- SEM) was +1.6 +/- 0.6 vs. +9.1 +/- 1.7 kg for placebo (P < 0.001). Octreotide suppressed insulin, and stabilized weight and BMI. safe and well tolerated Lustig RH et al, J Clin Endocrinol Metab. 2003 Jun;88(6):2586-92 Dextroamphetamine & HO (1) Retrospective review N=12, treated for 13-15 months, low-dose 10/12 experienced either stabilization of weight or weight loss on treatment median loss -0.7 SDS in males, -0.44 SDS in females improvement in daytime wakefulness and/or concentration and exercise tolerance Ismail D et al, J Pediatr Endocrinol Metab. 2006 Feb;19(2):129-34 Dextroamphetamine & HO (2) CNS stimulant n=5 for 2 years BMI=21 pre-op, BMI=32 at enrolment Weight gain stabilised Improvements in overall activity and attention Can earlier intervention prevent initial obesity? Mason PW et al, Arch Pediatr Adolesc Med. 2002 Sep;156(9):887-92 Melatonin and hypersomnolence Experimental melatonin substitution in 10 adult obese patients (5f/5m) with childhood craniopharyngioma. In all 10 patients with childhood craniopharyngioma the degree of daytime sleepiness significantly improved based on activity diaries, ESS, self assessment questionnaires and accelerometry. ? Effects on weight Muller HL et al, Cancer Causes Control. 2006 May;17(4):583-9 Bariatric Surgery Male aged 13 Dx with cranio subtotal surgical resection and XRT Severe hyperphagia, gaining weight at 70 kg per year Failed interventions with dietary measures and physical activity. Multiple co-morbidities Weight stabilised on octreotide but no weight loss Laparoscopic Roux-en-Y-gastric bypass aged Marked reductions in food cravings, reduction in hyperinsulinaemia 49 kg weight loss over ensuing 2.5 years Inge TH et al, Nat Clin Pract Endo Metab 2007; 3(8):606-609 The optimal treatment of hypothalamic obesity remains elusive, but increased awareness of the existence of the problem could help prevent obesity. Management of these patients requires a multidisciplinary approach