Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study

Objectives: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy characterized by chronic lung disease and cyclic vomiting due to hyper-adrenergic crises. Most FD patients are in a depleted nutritional state; however the phenotype of the disease is quite different between patients, as for the severity of lung disease and the intensity and frequency of these pathognomonic crises. In this study we wanted to investigate whether resting energy expenditure (REE) levels are increased in this population, and if correlations exist between REE levels and phenotype severity. Methods: Data was collected from 12 FD patients (6/6 m/f). REE measurements were conducted by indirect calorimeter. Measured REE % predicted were correlated with pulmonary function, severity of the scoliosis, serum C- reactive protein, yearly frequency of hyper-adrenergic crisis, hospital admissions and the use of nocturnal noninvasive positive pressure ventilation. Results: Mean REE was 112 ±13% predicted with 50% being in a hypermetabolic state (REE/HB > 110%). Body Mass Index (BMI) was below normal range in 75% of patients, and reduced energy intake was also decreased in 75%. No significant correlations to disease severity factors were found. When dividing the subjects to REE levels above or below 125% predicted, Patients with REE above 125% predicted presented with significantly lower Inspiratory Capacity (IC) (42.7% predicted vs 62.8% predicted; p=0.04). Conclusions: Hypermetabolic state was described in 50% of FD patients. The Low BMI is explained by combination of relative anorexia and increased REE. The REE levels are related to the underling respiratory disease. Address correspondence and reprint requests to Bat-El Bar Aluma, MD, Pulmonary Unit and the National Center for Cystic Fibrosis, Edmond and Lily Safra Children's Pediatric Hospital, Sheba Medical Center, Tel Hashomer, Israel (e-mail: BatEl.BarAluma@sheba.health.gov.il). Received 20 May, 2018 Accepted 7 October, 2018 Conflicts of Interest and Source of Funding: None declared © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

from Gastroenterology via xlomafota13 on Inoreader https://ift.tt/2PFkJaT
via IFTTT