Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. Academic Article uri icon

abstract

  • Congenital insensitivity to pain with anhidrosis (CIPA), or hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder that manifests with recurrent episodic fevers, anhidrosis, defects in nociceptive reception, self-mutilating behavior, and intellectual disability.1 The human TRKA gene (NTRK1), found on chromosome 1q21-q22, has been reported to be responsible for CIPA, encoding the neurotrophic tyrosine kinase receptor for nerve growth factor.2,3 The mutation in NTRK1 hinders the ability of nerve growth factor to bind to the receptor properly, leading to the characteristic lack of nociceptive reception. The anomalous pain and temperature sensation and anhidrosis in CIPA result from a loss of afferent unmyelinated and small myelinated nerves and a loss of unmyelinated axons in peripheral nerves surrounding eccrine sweat glands, respectively.4 The pathophysiological mechanisms of these morphological changes are unknown but are thought to reflect a developmental defect. There is no cure for CIPA, and therapy is largely preventive or supportive. If hyperpyrexia is not well controlled, CIPA can be fatal in the first few years of life. In younger children, self-mutilation such as tongue or finger biting is very common and requires dental extractions. In older children, osteomyelitis and bone/joint deformities require frequent surgical procedures, including amputations.5,6 Special training programs to prevent self-mutilation and accidental injuries are necessary but may be hampered by the patients’ cognitive deficiencies.7 The anesthetic management of patients with CIPA is challenging. Autonomic nervous system abnormalities are common, making CIPA patients subject to numerous anesthetic complications, including an increased risk of regurgitation and aspiration, hyperthermia, hypotension, and bradycardia.2,7,8 However, CIPA is rare, and there is insufficient data in the literature regarding the rate of complications. In the largest analysis of anesthetics in CIPA patients to date, the experience of 40 cases from our institution was described.9 In Israel, there are 2 Bedouin families with CIPA. One family from southern Israel has a 1926-ins-T mutation in TRKA gene. A second family from northern Israel has a Pro-689-Leu mutation in the TRKA gene.2 Soroka University Medical Center (SUMC), a 1100-bed hospital, is the primary referral center for the entire southern region of Israel. At our institution, CIPA patients have undergone a wide range of surgical procedures. In this study, we present a retrospective analysis of our experience with 35 patients with CIPA who underwent 358 procedures requiring general anesthesia between 1990 and 2013.

publication date

  • January 1, 2015