Resting Energy Expenditure in Patients With Familial Dysautonomia

Abstract

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 hyperadrenergic 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 (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.

Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

“…FD symptoms result largely from dysfunctional neuronal development and neurodegeneration of sensory and autonomic neurons in the peripheral nervous system, leading to widespread deficits in organ innervation 3 . FD patients have reduced body mass index (BMI), high metabolic rate, and low fat content indicative of metabolic deficits 14 . In addition, patients have severe cardiovascular, respiratory, and gastrointestinal (GI) dysfunction due to innervation deficits 3 , 15 , 16 .…”

Review of long COVID in pediatric gastroenterology, hepatology, & nutrition

“…The common and sometimes patient-reported overlap between hypermobility should also be evaluated in LC as it is unclear if hypermobility is related to GI tract dysautonomia. 10,11 We highlight the common GI manifestations of LC in children in Figure 1 below.…”

“…Lastly, neuropathic dysautonomia needs to be better understood in LC, as it may contribute to dysphagia, dysmotility, nausea, constipation, and emesis in the GI system. The common and sometimes patient‐reported overlap between hypermobility should also be evaluated in LC as it is unclear if hypermobility is related to GI tract dysautonomia 10,11 . We highlight the common GI manifestations of LC in children in Figure 1 below.…”

The Influence of Family Crisis Coping Strategies on Family Quality of Life in the Assessment of Patients with Idiopathic Scoliosis

“…Other factors that bother juveniles with SI are the need to regularly perform corrective exercises and constant self-control of posture, as well as constant control by parents in terms of performing assigned physical activities and wearing a corset, which can cause stress, anger, depressive mood, disputes in the family and, consequently, reduce the general FQOL level of their families. A person suffering from chronic diseases, functioning in the family system, requires support and encouragement from relatives (family), but also copes with the family crisis caused by the disease in an individualized way [11]. The F-COPES scale (Family Crisis Oriented Evaluation Scales F-COPES) can be used to assess the ways of coping with a family crisis in patients with SI.…”