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Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.

Abstract：

BACKGROUND:Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. METHODS:We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. RESULTS:Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, non-invasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. CONCLUSIONS:Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.

journal_name

Respir Med

journal_title

Respiratory medicine

authors

Kazachkov M,Palma JA,Norcliffe-Kaufmann L,Bar-Aluma BE,Spalink CL,Barnes EP,Amoroso NE,Balou SM,Bess S,Chopra A,Condos R,Efrati O,Fitzgerald K,Fridman D,Goldenberg RM,Goldhaber A,Kaufman DA,Kothare SV,Levine J,Levy

doi

10.1016/j.rmed.2018.06.017

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

37-46

eissn

0954-6111

issn

1532-3064

pii

S0954-6111(18)30208-7

journal_volume

141

pub_type

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Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.