[MIM 223 900]

(Hereditary sensory and autonomic neuropathies )There are 5 types of HSAN (acronym for Hereditary Sensory and Autonomic Neuropathy)

• HSAN I: the most common, autosomal dominant transmission (locus 9q22); onset in the second decade of life by a loss of nociception and thermal sensitivity in the lower extremities; ulcers, painless injuries; few problems of dysautonomia; involvement of C fibers and Aδ
• HSAN II: autosomal recessive transmission (locus 12p13); onset in childhood; diffuse loss of tact and nociception (firstly topography in gloves and socks); wounds, painless traumas and fractures ; main affects the myelinated fibres in Aβ and Aδ
• HSAN III or familial ysautonomia (Riley-Day syndrome), autosomal recessive transmission (mutation of the IKBKAP gene on l9q31); especially in populations of Ashkenazi ancestry; loss of myelinated fibres Aβ and Aδ , and severe involvement of C fibers; autonomic dysfunction associated with a diffuse loss of tact and nociception but the perception of visceral and  musculoskeletal pain is normal; abnormal responses to hypoxemia and the hypercarbia; onset in the neonatal period with difficulties in feeding, episodes of fever, increased sweating (risk of hypoNa), orthostatic hypotension and hypertension when lying; painless sores; absence of tears; digestive motility disorders : acid gastro-esophageal reflux, gastric emptying delay, esophageal dysmotility; MAOI A tissue concentrations are low. A chronic treatment with large doses of vitamin E derivatives (tocotrienols) and green tea extracts (epigallocatechin-3-gallate) can restore normal levels of IKAP protein and thus of MAOI tissue, thereby reducing the crises of dysautonomia (hypertension, skin flush, sweating). This treatment (which interfers in vitro with platelet function) must therefore be pursued in perioperative period.
• HSAN IV or insensitivity to pain with congenital anhidrosis (CIPA, acronym of Congenital Insensitivity to Pain and Anhidrosis), autosomal recessive itransmission of a mutation of the TRKA gene on 1q21- q22, resulting in a lack of C fibres and decrease in the number of fibres Aδ ; insensitivity to pain and autonomic disorders (inability to sweat) but tact and perception of pressure remain intact; often mental retardation and self-mutilation.
• HSAN V or insensitivity to pain without anhidrosis congenital: autosomal recessive transmission (locus 1p13.1); insensitivity to pain and heat from childhood but proprioception, touch and sense of vibration are intact; frequent self-mutilation. Decreased circulating catecholamine level.
• HSAN VII or congenital insensitivity to pain with anhidrosis and intestinal dysfunction: autosomal dominant transmission of a mutation of SCN11A (3p22).

Anesthetic implications: 

although classically contraindicated (risk of hyperthermia ?), administration of atropine does not involve any deleterious effects. Anxiety can cause a dysautonomia crisis: effective premedication or the presence of parents is therefore useful during induction of anesthesia. Risk of inhalation of gastric contents (dysmotility of the esophagus, delayed gastric emptying). In some cases, for example types II and V, relative hyperesthesia may explain normal or elevated needs in general anesthetics. Painful stimuli do not lead to hemodynamic response: so it can be useful to use BIS (or another way to measure the depth of anesthesia) to titrate the  IV or halogenated anesthetics. The LRA has been  successfully used in HSAN III; in this form, the response to hypoxia and the hypercarbia is reduced, with a significant risk for slow awakening from anesthesia and postop apnea. in case of HSAN IV, the incidence of perioperative bradycardia and hypotension seems important.

References : 

• Rozentsveig V, Katz A, Wreksler N, Schwartz A, Schilly M, Klein M, Gurman GM. 
  The anaesthetic management of patients with insensivity to pain with anhidrosis. 
  Pediatr Anesth 2004; 14: 344-8.
• Fujiwara Y, Hirokawa M, Wakao Y, Itou H, Komatsu T. 
  Heart rate variability in a child with hereditary sensory autonomic neuropathy 2 (HSAN  2) during general anesthesia with propofol and fentanyl. 
  Pediatr Anesth 2006; 16: 363-6.
• Brandes IF, Stuth AEA. 
  Use of BIS monitor in a child with congenital insensivity to pain and anhidrosis. 
  Pediatr Anesth 2006; 16: 466-70.
• Weingarten TN, Sprung J, Ackerman JD, Bojanic K, Watson JC, Dyck PJ. 
  Anesthesia and patients with congenital hyposensitivity to pain. 
  Anesthesiology 2006; 105: 338-45.
• Zlotnik A, Gruenbaum SE, Rozet I, Zhumadilov A, Shapira Y.
  Risk of aspiration during anesthesia in patients with congenital insensitivity to pain with anhidrosis: case reports and review of the literature.
  J Anesth 2010;24:778-82.
• Parrott LM. 
  Anesthetic management of a patient with congenital insensivity to pain: a case report. 
  AANA Journal 2013 ; 81 : 376-8.
• Zlotnik, Natanel D, Kutz R, Boyko M et al. 
  Anesthetic management of patients with congenital insensitivity to pain with anhydrosis: a retrospective analysis of 358 procedures performed under general anesthesia. 
  Anesth Analg 2015; 121: 1316-20.
• Rafer L, Mooney J.
  Anesthetic management of a patient with de novo Hereditary Sensory and Autonomic Neuropathy type VII : a case report.
  A&A Practice 2018 ; 10 : 173-5 
• Jiang J, Wang X, Hu J, Wang S.
  A case report: Anesthetic management for open-heart surgery in a child with congenital insensitivity to pain with anhidrosis.
  Pediatr Anesth 2022;32:1070-2

Updated: August 2022