Anaesthesia and orphan disease: airway and anaesthetic management in Huntington’s disease

Abstract

We present a case that highlights the issues surrounding the delivery of a safe general anaesthetic to a patient with Huntington's disease (HD) and bulbar dysfunction. In the case of a 46-year-old patient undergoing laparoscopic percutaneous endoscopic gastrostomy tube insertion, we discuss the rationale behind our chosen method and anaesthetic agents as well as airway issues specific to HD. In a patient whose condition would not allow for an awake fibreoptic intubation, we opted for a modified rapid sequence induction. Special considerations were made with regard to muscle relaxation given the complications associated with inadequate paralysis and reversal in patients with HD. The technique we describe may also apply to other patient categories, such as patients with movement disorders, bulbar dysfunction and dementia.

Neuro-Cardio Mechanisms in Huntington’s Disease and Other Neurodegenerative Disorders

“…In rare cases (∼1 in 100), the HTT gene is apparently not expanded, yet individuals present with clinical manifestations of HD. These cases are classified as HD phenocopies – for a summary see Nguyen et al (2017) .…”

Videolaryngoscope-guided intubation without neuromuscular blockade in a patient with Huntington’s disease

“…In this case, we discontinued the patient's psychotropic medications on the morning of surgery according to the preoperative recommendation of a neurologist, and these medications were successfully restarted without any exacerbation of neuropsychiatric symptoms. Secondly, advanced HD patients have a risk of regurgitation and aspiration due to dysphagia with dysfunction of pharyngeal muscles [2,8,9]. Therefore, the awake FOBI is recommended for prevention of these complications [10].…”

“…As another option, rapid sequence induction with cricoid pressure can be applied in HD patients with aspiration risk [2,6,11]. However, TOF monitoring is essential throughout the operation, because inappropriate neuromuscular relaxation can cause gag reflex, and the residual paralysis after recovery can cause respiratory problems along with aspiration [2]. Therefore, if awake intubation is not required, intubation and extubation should be performed when the TOF ratio is 0 and above 0.9, respectively [2].…”

“…Huntington's disease (HD) is a rare autosomal dominant disorder caused by a mutation in the Huntingtin gene on chromosome 4, and its onset is typically between 30 and 50 years of age [1,2]. This Huntingtin gene has considerable inter-individual variability in the length of cytosine-adenine-guanine (CAG) trinucleotides, and CAG repeats exceeding the normal limit of 35 repeats have been correlated with the progression of motor and cognitive deficits [1,2].…”

“…With disease progression, dysphagia with dysfunction of pharyngeal muscles develops, increasing the risk of aspiration [1,3]. In addition, an exaggerated response and an increased sensitivity to anesthetics, prolonged intraoperative apnea and recovery, postoperative agitation and psychosis, intense postoperative shivering, and generalized tonic spasm have been suggested as potential perioperative complications in HD patients [2,4]. However, with the low prevalence of HD, there is a paucity Therefore, the inexperienced anesthesiologist may face challenges in the management of HD patients, and ideal anesthetic management regimens are yet to be determined.…”