Hostname: page-component-669899f699-b58lm Total loading time: 0 Render date: 2025-04-25T10:00:26.177Z Has data issue: false hasContentIssue false
  • English
  • Français

Perioperative management of familial dysautonomia: a systematic review

Published online by Cambridge University Press:  01 April 2007

T. N. Weingarten ,
J. Sprung  and
A. H. Burgher
Get access

Summary

Background and objective

Familial dysautonomia (FD), a rare genetic disorder, is characterized by autonomic instability, pulmonary infections, oesophageal dysmotility, spinal abnormalities and episodic ‘dysautonomic crisis’ characterized by rash, vomiting, sweating and hypertension. Frequent anaesthetic complications have been reported.

Methods

We performed a comprehensive literature search of perioperative management of FD using an OVID-based search strategy. Identified reports were reviewed to identify perioperative complications as well as anaesthetic techniques and perioperative management strategies developed to minimize or prevent these complications.

Results

Eighteen case reports or series of perioperative management of FD were identified in the literature for a total of 179 patients undergoing 290 anaesthetics. Intraoperative cardiovascular lability, including cardiac arrests and postoperative pulmonary complications were commonly reported. Preoperative hydration, minimizing the use of volatile anaesthetic agents, postoperative ventilation, use of regional anaesthesia and minimally invasive surgical techniques reduced the incidence of these complications.

Conclusions

While patients with FD are reported to have a relatively high rate of various perioperative complications, a full understanding of its pathophysiology can be used to develop a perioperative management strategy to anticipate and prevent many of these complications.

Keywords

DYSAUTONOMIA FAMILIALHUMAN BEINGSSURGICAL PROCEDURESOPERATIVEANAESTHESIA GENERALSYSTEMATIC REVIEWINTRAOPERATIVE COMPLICATIONS
Type
Review Article
Information
European Journal of Anaesthesiology , Volume 24 , Issue 4 , April 2007 , pp. 309 - 316
Copyright
Copyright © European Society of Anaesthesiology 2006

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

1.Riley, CM, Day, RL, Greeley, DM, Langford, WS. Central autonomic dysfunction with defective lacrimation: report of five cases. Pediatrics 1949; 3: 468–478.CrossRefGoogle ScholarPubMed
2.Klein, CJ, Dyck, PJ. Hereditary sensory and autonomic neuropathies. In: Dyck, PJ, Thomas, PK, eds. Peripheral Neuropathy. Philadelphia: Elsevier Saunders, 2005: 1809–1844.CrossRefGoogle Scholar
3.Slaugenhaupt, SA, Blumenfeld, A, Gill, SP et al. . Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68: 598–605.CrossRefGoogle ScholarPubMed
4.Albanese, SA, Bobechko, WP. Spine deformity in familial dysautonomia (Riley-Day syndrome). J Pediatr Orthop 1987; 7: 179–183.CrossRefGoogle ScholarPubMed
5.Bernardi, L, Hilz, M, Stemper, B, Passino, C, Welsch, G, Axelrod, FB. Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med 2003; 167: 141–149.CrossRefGoogle ScholarPubMed
6.Axelrod, FB, Donenfeld, RF, Danziger, F, Turndorf, H. Anesthesia in familial dysautonomia. Anesthesiology 1988; 68: 631–635.CrossRefGoogle ScholarPubMed
7.Kritchman, MM, Schwartz, H, Papper, EM. Experiences with general anesthesia in patients with familial dysautonomia. JAMA 1959; 170: 529–533.CrossRefGoogle ScholarPubMed
8.Stubbig, K, Schmidt, H, Schreckenberger, R, Bohrer, H, Motsch, J. Anesthesia and intensive therapy in autonomic dysfunction. Anaesthesist 1993; 42: 316–319.Google ScholarPubMed
9.McCaughey, TJ. Familial dysautonomia as an anaesthetic hazard. Can Anaesth Soc J 1965; 12: 558–568.CrossRefGoogle ScholarPubMed
10.Bartels, J, Mazzia, VD. Familial dysautonomia. JAMA 1970; 212: 318–319.CrossRefGoogle ScholarPubMed
11.Inkster, JS. Anaesthesia for a patient suffering from familial dysautonomia (Riley-Day syndrome). Case report. Br J Anaesth 1971; 43: 509–512.CrossRefGoogle ScholarPubMed
12.Stenqvist, O, Sigurdsson, J. The anaesthetic management of a patient with familial dysautonomia. Anaesthesia 1982; 37: 929–932.CrossRefGoogle ScholarPubMed
13.Kaufman, E, Kadari, A, Galili, D, Garfunkel, A. Nitrous oxide analgesia in selected dental patients. Anesth Prog 1982; 29: 78–80.Google ScholarPubMed
14.Freeman, TT, Jester, S, JrBecker, KE. Riley-Day syndrome: management of anesthesia for patients with familial dysautonomia. J Kans Med Soc 1983; 84: 446–447.Google ScholarPubMed
15.Leiberman, JR, Cohen, A, Wiznitzer, A, Maayan, C, Greemberg, L. Cesarean section by local anesthesia in patients with familial dysautonomia. Am J Obstet Gynecol 1991; 165: 110–111.CrossRefGoogle ScholarPubMed
16.Meridy, HW, Creighton, RE. General anaesthesia in eight patients with familial dysautonomia. Can Anaesth Soc J 1971; 18: 563–570.CrossRefGoogle Scholar
17.Cox, RG, Sumner, E. Familial dysautonomia. Anaesthesia 1983; 38: 293.CrossRefGoogle ScholarPubMed
18.Beilin, B, Maayan, C, Vatashsky, E, Shulman, D, Vinograd, I, Aronson, HB. Fentanyl anesthesia in familial dysautonomia. Anesth Analg 1985; 64: 72–76.CrossRefGoogle ScholarPubMed
19.Challands, JF, Facer, EK. Epidural anaesthesia and familial dysautonomia (the Riley Day syndrome). Three case reports. Paediatr Anaesth 1998; 8: 83–88.CrossRefGoogle ScholarPubMed
20.Udassin, R, Seror, D, Vinograd, I, Zamir, O, Godfrey, S, Nissan, S. Nissen fundoplication in the treatment of children with familial dysautonomia. Am J Surg 1992; 164: 332–336.CrossRefGoogle ScholarPubMed
21.Szold, A, Udassin, R, Maayan, C, Vromen, A, Seror, D, Zamir, O. Laparoscopic-modified Nissen fundoplication in children with familial dysautonomia. J Pediatr Surg 1996; 31: 1560–1562.CrossRefGoogle ScholarPubMed
22.Dell'oste, C, Vincenti, E, Torre, G. Multiple and various anaesthetics, ketamine included, in a young patient with familial dysautonomia, Case report. Minerva Pediatr 1996; 48: 113–116.Google Scholar
23.Wengrower, D, Gozal, D, Goldin, E. Familial dysautonomia: deep sedation and management in endoscopic procedures [see comment]. Am J Gastroenterol 2002; 97: 2550–2552.CrossRefGoogle ScholarPubMed
24.Riley, CM, Freedman, AM, Langford, WS. Further observations in familial dysautonomia. Pediatrics 1954; 14: 475–480.CrossRefGoogle ScholarPubMed
25.Stemper, B, Bernardi, L, Axelrod, FB, Welsch, G, Passino, C, Hilz, MJ. Sympathetic and parasympathetic baroreflex dysfunction in familial dysautonomia. Neurology 2004; 63: 1427–1431.CrossRefGoogle ScholarPubMed
26.Pearson, J, Pytel, BA. Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J Neurol Sci 1978; 39: 47–59.CrossRefGoogle ScholarPubMed
27.Pearson, J, Pytel, BA, Grover-Johnson, N, Axelrod, FB, Dancis, J. Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci 1978; 35: 77–92.CrossRefGoogle ScholarPubMed
28.Grover-Johnson, N, Pearson, J. Deficient vascular innervation in familial dysautonomia, an explanation for vasomotor instability. J Neuropathol Appl Neurobiol 1976; 2: 217–224.CrossRefGoogle Scholar
29.Hilz, MJ, Stemper, B, Sauer, P, Haertl, U, Singer, W, Axelrod, FB. Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia. Am J Physiol 1999; 276: R1833–R1839.Google ScholarPubMed
30.Smith, AA, Taylor, T, Wortis, SB. Abnormal catecholamine metabolism in familial dysautonomia. N Engl J Med 1963; 268: 705–707.CrossRefGoogle ScholarPubMed
31.Weinshilboum, RM, Axelrod, FB. Reduced plasma dopamine-B-hydroxylase activity in familial dysautonomia. N Engl J Med 1971; 285: 938.CrossRefGoogle Scholar
32.Axelrod, FB. Familial Dysautonomia. Muscle Nerve 2004; 29: 352–363.CrossRefGoogle ScholarPubMed
33.Brown, JW, Beauchemin, JA, Linde, LM. A neuropathological study of familial dysautonomia (Riley-Day syndrome) in sibilings. J Neurol Neurosurg Psychiatry 1964; 27: 131.CrossRefGoogle Scholar
34.Bickel, A, Axelrod, FB, Schmelz, M, Marthol, H, Hilz, MJ. Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry 2002; 73: 299–302.CrossRefGoogle ScholarPubMed
35.Smith, AA, Dancis, J. Exaggerated reponse to infused norepinephrine in familial dysautonomia. New Eng J Med 1964; 270: 704.CrossRefGoogle Scholar
36.Keenan, RL, Boyan, CP. Cardiac arrest due to anesthesia. A study of incidence and causes. JAMA 1985; 253: 2373–2377.CrossRefGoogle Scholar
37.Axelrod, FB, Zupanc, M, Hilz, MJ, Kramer, EL. Ictal SPECT during autonomic crisis in familial dysautonomia. Neurology 2000; 55: 122–125.CrossRefGoogle ScholarPubMed
38.Weingarten, TN, Sprung, J, Ackerman, JD, Bojanic, K, Watson, JC, Dyck, PJ. Anesthesia and patients with congenital hyposensitivity to pain: a case series and review of literature. Anesthesiology 2006; 105: 338–345.CrossRefGoogle Scholar
39.Foster, JM. Anaesthesia for a patient with familial dysautonomia. Anaesthesia 1983; 38: 391.CrossRefGoogle ScholarPubMed