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Specific Genetic Diseases at Risk for Sedation/Anesthesia Complications

Butler, Merlin G. MD, PhD, FACMG; Hayes, Blaine G. BS; Hathaway, Melanie M. BA, BS; Begleiter, Michael L. MS, CGC

doi: 10.1097/00000539-200010000-00014
PEDIATRIC ANESTHESIA: SPECIAL ARTICLE
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We reviewed of a number of genetic diseases known or at risk for sedation or anesthesia complications. Some of these conditions are relatively common (e.g., Down’s syndrome) whereas others are rare or present with multiple congenital anomalies that have an impact on health care delivery. We listed complications, recommended presedation evaluations, and included checklist items to assist the health care provider administering sedation and anesthesia. A better recognition and awareness of risk factors associated with specific genetic diseases should lessen the likelihood of complications during these procedures.

Implications This article provides a brief description of potential problematic genetic disorders and associated complications that may manifest during sedation or anesthesia. Recommendations for presedation evaluation and checklist items are given that may impact on the delivery of care for these patients.

Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics, Kansas City, Missouri

June 9, 2000.

Address correspondence and reprint requests to Merlin G. Butler, MD, PhD, Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics, 2401 Gillham Rd., Kansas City, MO 64108. Address e-mail to mgbutler@cmh.edu.

Patients with common or uncommon genetic disorders, with or without multiple congenital anomalies, present unique challenges to the health care provider responsible for administering sedation and anesthesia during surgical or technical procedures. Patients affected with heritable diseases often have special health-related needs requiring attention before successful sedation or anesthesia. It is important for health care providers, including nurses and physicians treating these patients, to recognize risk factors and potential complications before sedation or anesthesia.

A brief description of potential problematic genetic disorders and associated complications is presented that may manifest during sedation or anesthesia. Recommendations for presedation evaluation and checklist items are given that may have an impact on the delivery of care for these patients. This review is not intended as a comprehensive survey of all genetic diseases with possible complications relating to anesthesia, but it does list specific conditions with known or potential risks for complications. In addition, specific recommendations are given to provide strategies to alleviate possible problems.

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Methods

The genetic diseases described in this report were chosen by five selection processes: 1) searching for potential risk factors (e.g., severe hypotonia, airway obstruction, vertebral anomalies) for sedation and/or anesthesia in the 15 most common genetic disorders from a Canadian population survey of genetic diseases reported by Baird et al. (1); this survey identified the most common genetic disorders in specific etiologic categories, including single gene (autosomal dominant, autosomal recessive, and X-linked), chromosomal and multifactorial; 2) by personal experience or verbal communication with health care providers from major medical centers providing care for patients with genetic conditions; 3) searching for potential risk factors for sedation and/or anesthesia in the ten most common genetic diseases referred for genetic services reported from a major medical center in the United States (2); 4) reviewing the most current edition of Smith’s Recognizable Patterns of Human Malformation (3), a principle textbook used in the clinical practice of genetics, and identifying those diseases with features (e.g., anatomic airway obstruction) that may complicate sedation/anesthesia procedures; and 5) an online computer search of the medical literature by using Medline and other computer health databases searching for reported sedation/anesthesia complications in patients with genetic diseases. One hundred sixty-three conditions were identified and summarized in tabular form in this article.

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Results

The results of this survey, including sedation and anesthesia considerations/complications for patients with selected genetic disorders, are summarized in Table 1, which is arranged alphabetically by disease. The disorder and its etiology are listed in Table 1. A brief description of each condition is given along with potential sedation and anesthesia complications. Recommendations for presedation evaluation are also given, and references are cited. Items that may have an impact on the delivery of care to the patient include a difficult airway as a result of upper or lower airway obstruction or defects (e.g., cleft lip/palate, small chin or mouth, macroglossia, choanal stenosis/atresia, tracheomalacia, tracheoesophageal fistula, craniofacial deformities); altered respiratory mechanisms caused by skeletal anomalies (e.g., small chest, rib, sternal, or vertebral anomalies); bronchopulmonary hypoplasia or altered respiratory drive; gastric reflux; cardiovascular disorder (arrhythmia or structural defect); neuromuscular problems (e.g., myotonia, muscular dystrophy or weakness; central nervous system defects); and liver and kidney disease. Comments are made regarding adverse effects of opioids, neuromuscular drugs and succinylcholine reported in the literature. Caution should be taken with the use of specific drugs in patients with liver disease (e.g., liver is the major site for biotransformation for most opioids) and at risk for decreased drug clearance. Adverse reactions to succinylcholine consist primarily of an extension of its pharmacological action and can cause prolonged muscle relaxation. Adverse reactions may include cardiac arrhythmias, malignant hyperthermia, hyper/hypotension, hyperkalemia, respiratory depression, muscle fasciculation and pain, joint rigidity, acute renal failure, excessive salivation, and rash. Therefore, patients with genetic conditions affecting certain organ systems (e.g., heart, liver, kidney) should be monitored more closely for these reactions. Drugs that may enhance the neuromuscular blocking action of succinylcholine should be noted, including several medications that may be prescribed for patients with genetic disorders. These may include nonpenicillin antibiotics, β-blockers, procainamide, lithium carbonate, glucocorticoids, metoclopromide, terbutaline, and monoamine oxidase inhibitors.

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Discussion

This study gives a brief overview of potential sedation and anesthesia complications with recommendations for presedation evaluation that health care providers may encounter when administering anesthesia or sedation to patients with specific genetic disorders. Checklist items are given involving several major organ systems that have a direct impact on the administration of anesthesia or sedation for each genetic condition described. This review should allow the anesthesiologists to be alerted to potential risk factors and recommendations for presedation evaluation for each patient with the specific genetic condition listed. Special attention should be given to the checklist items (particularly liver and renal problems) when sedation/anesthetics are used that require normal liver function and renal clearance for optimal use and how the organ system involvement may have an impact on their drug selection and administration. Those patients with muscular dystrophies (e.g., Duchenne’s), myotonic dystrophy, or central cord disease may be at risk for developing malignant hyperthermia. This listing is not intended to be a comprehensive review of all genetic diseases, but it focuses attention on conditions with known risk factors identified through personal experience/communication and a review of medical reports, textbooks, and surveys of rare and more common genetic conditions that may be encountered by the health care providers administering sedation or anesthesia.

The most prevalent concern is airway obstruction/defects and management issues followed by altered respiratory mechanisms (see Table 1). Careful intubation and close monitoring of the airway are necessary to guard against serious complications or obstructions in several diseases as a result of anatomic problems or neurologic impairment. Other major factors encountered are vertebral and rib abnormalities, craniofacial anomalies, and/or increased hyperextensibility caused by skeletal or connective tissue disorders. Proper positioning and supportive care of the patient’s head during intubation and surgical or invasive procedures should prevent most spinal nerve injuries and possible paralysis in these patients. Hypertension is also noted as a risk factor for a number of genetic disorders, caused by metabolic conditions, adverse effects of anesthesia medications. or congenital anatomical problems (e.g., cardiovascular or renal). When dealing with hypertensive patients, the standard protocol of monitoring cardiovascular, renal, and pulmonary function on a continuing basis should be closely followed. In addition, possible adverse reactions to certain medications that may cause cardiac arrhythmias, rigidity, hypertension, prolonged sedation, acute renal failure, and respiratory distress must be monitored in patients with specific genetic diseases. As indicated in Table 1, several conditions with multiple organ system involvement may present with early death (e.g., trisomy 13 and 18).

The uncooperative patient can also be a challenge, specifically, those with mental deficiency, psychiatric diagnoses, or aberrant behavior. Special attention must be given to make the patient feel as comfortable

as possible. Special behavior assessments may be required before sedation or anesthesia administration to meet or gain the trust of the patient and family and to alleviate problems. Exaggerated anxiety may lead to further tactile defensiveness, hyperactivity, attention deficits, psychomotor disturbances, and uncooperativeness. Desensitization and allaying anxiety are important key points to remember before successful sedation or anesthesia administration in patients with special needs. This is particularly important for patients with genetic diseases with neurologic involvement [approximately 60% of the reported 10,000 genetic conditions have central or peripheral nervous system abnormalities (4)]. In addition, hearing impairment and blindness are recognized features of several genetic diseases that raise additional problems for the health care provider.

{tabft}Neuro = neurological, CNS = central nervous system, PEEP = positive end-expiratory pressure, Misc = miscellaneous, ECG = electrocardiogram, cAMP = cyclic adenosine monophosphate, GE = gastroesophageal.

Genetic disorders pose a significant challenge to health care providers. The recognition of genetic conditions is increasing in the United States, with many patients not previously encountered requiring surgical procedures and intervention with anesthesia. This is a result of changing medical practice, growing awareness and recognition of genetic diseases, modern medical advances, and increased longevity of patients with many genetic conditions. With increased prevalence (and incidence) of genetic diseases and with better recognition comes the need for comprehensive efforts of health care providers to meet the growing special needs of each patient. Acknowledging unique anesthesia considerations is an essential part of providing adequate health care for patients with genetic diseases and can serve as a means of avoiding morbidity and mortality.

We thank Karen Henrion for expert preparation of the manuscript. We thank William Daniels, DO, pediatric anesthesiologist, for his critical reading of the manuscript and helpful suggestions.

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