Overview
Familial dysautonomia (FD) is a rare, autosomal recessive genetic disorder affecting the development of the autonomic and sensory nervous systems, leading to diverse symptoms including autonomic dysregulation, gastrointestinal issues, and respiratory complications 1578.Diagnosis
Clinical Presentation: Characteristic symptoms include episodic vomiting, dysphagia, orthostatic hypotension, and recurrent pneumonia 157.
Genetic Testing: Confirmation through mutation analysis of the IGH gene 1.
Autonomic Function Tests: Evaluation of cardiovascular and sudomotor function may be necessary 1.
Imaging and Endoscopy: Useful for identifying complications like megaesophagus and gastrointestinal strictures 58.Management
Symptomatic Treatment:
- Midazolam: For anxiolysis, 0.1-0.2 mg/kg i.v. 4.
- Propofol: For deep sedation during procedures, 0.5-1 mg/kg i.v. bolus followed by maintenance drip 50-100 μg/kg/min 4.
- Dexmedetomidine: For hemodynamic stability during anesthesia, titrated to patient response 2.
Gastrointestinal Support:
- Gastrostomy Tubes: To manage feeding difficulties and prevent aspiration 54.
Respiratory Management:
- Monitoring and Support: Close monitoring for apnea and recurrent aspiration, with interventions like gastrostomy to alleviate symptoms 5.Special Populations
Pediatrics:
- Anesthesia: Careful planning and titration of medications crucial; dexmedetomidine shown to be safe 24.
Pregnancy:
- Monitoring: Increased vigilance for autonomic and sensory dysfunction complications; two known viable pregnancies with normal offspring reported 9 (Evidence: Expert opinion).
Comorbidities:
- Megaesophagus and Apnea: Recognize potential respiratory complications and manage with appropriate interventions like gastrostomy 5.
- Congenital Megacolon: Consider potential shared etiology with FD 8 (Evidence: Expert opinion).Key Recommendations
Confirm diagnosis through genetic testing for IGH gene mutations (Evidence: Strong 1).
Utilize deep sedation with propofol for endoscopic procedures in FD patients to manage autonomic instability (Evidence: Moderate 4).
Implement gastrostomy tubes to address feeding difficulties and prevent aspiration in patients with megaesophagus (Evidence: Moderate 5).
Closely monitor pregnant women with FD for autonomic dysfunction complications, given limited data (Evidence: Expert opinion 9).References
1 Boris JR. The role of the cardiologist in the evaluation of dysautonomia. Cardiology in the young 2010. link
2 Abulhasan Y, Buu N, Frigon C. Perioperative use of dexmedetomidine in an infant with familial dysautonomia. British journal of anaesthesia 2009. link
3 Bednarek N, Arbuès AS, Motte J, Sabouraud P, Plouin P, Morville P. Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby. Epileptic disorders : international epilepsy journal with videotape 2005. link
4 Wengrower D, Gozal D, Goldin E. Familial dysautonomia: deep sedation and management in endoscopic procedures. The American journal of gastroenterology 2002. link
5 Maayan C, Oren A, Goldin E, Dinour D, Goldberg M, Mogle P. Megaesophagus and recurrent apnea in an adult patient with familial dysautonomia. The American journal of gastroenterology 1990. link
6 Rakocz M, Frand M, Brand N. Familial dysautonomia with Riga-Fede's disease: report of case. ASDC journal of dentistry for children 1987. link
7 Fishbein D, Grossman RF. Pulmonary manifestations of familial dysautonomia in an adult. The American journal of medicine 1986. link90830-2)
8 Azizi E, Berlowitz I, Vinograd I, Reif R, Mundel G. Congenital megacolon associated with familial dysautonomia. European journal of pediatrics 1984. link
9 Porges RF, Axelrod FB, Richards M. Pregnancy in familial dysautonomia. American journal of obstetrics and gynecology 1978. link90740-8)