The Changing Face of Cystic Fibrosis: An Update for Anesthesiologists

Amy J. Lee, MD; Julie L. Huffmyer, MD; Eryn L. Thiele, MD; Pamela L. Zeitlin, MD, MPhil, PhD; Debnath Chatterjee, MD, FAAP

Disclosures

Anesth Analg. 2022;134(6):1245-1259. 

In This Article

Abstract and Introduction

Abstract

Cystic fibrosis (CF) is the most common fatal genetic disease in North America. While CF is more common among Whites, it is increasingly being recognized in other races and ethnicities. Although there is no cure, life expectancy has steadily improved, with the median survival exceeding 46 years in the United States. There are now more adults than children with CF in the United States. CF is caused by mutations in a gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, expressed in many epithelial cells. More than 2100 CFTR mutations have been linked to CF, and newer CFTR modulator drugs are being used to improve the production, intracellular processing, and function of the defective CFTR protein. CF is a multisystem disease that affects primarily the lungs, pancreas, hepatobiliary system, and reproductive organs. Anesthesiologists routinely encounter CF patients for various surgical and medical procedures, depending on the age group. This review article focuses on the changing epidemiology of CF, advances in the classification of CFTR mutations, the latest innovations in CFTR modulator therapies, the impact of the coronavirus disease pandemic, and perioperative considerations that anesthesiologists must know while caring for patients with CF.

Introduction

Cystic fibrosis (CF) is the most common, life-shortening, autosomal recessive disease among Whites, with the highest prevalence in Europe, North America, and Australia.[1] When American pathologist and pediatrician Dorothy Anderson first described CF in 1938, most patients died in their early infancy.[2] Over the past 4 decades, significant advances in the diagnosis and management of CF have changed its epidemiological profile, with dramatic improvements in survival.[3,4] Contributing factors include early diagnosis through newborn screening (NBS), standardization of care by multidisciplinary teams in specialized centers, better control of pulmonary infections, aggressive nutritional supplementation with pancreatic enzymes, and lung transplantation.[3] Today, more than half of CF patients are adults, with an estimated median age of survival close to 50 years.[5–7] CF has gradually morphed from being an exclusive pediatric disease into a condition that also affects adults, with new associated pathologies.[8]

CF is caused by mutations in a gene on chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, expressed in many epithelial cells.[9] Since 1989, over 2100 disease-causing mutations have been reported.[10] Novel CFTR modulator drugs improve the production, intracellular processing, and function of the defective CFTR protein. This review article focuses on the changing epidemiology of CF, advances in the classification of CFTR mutations, the latest innovations in CFTR modulator therapies, the impact of the coronavirus disease 2019 (COVID-19) pandemic, and perioperative considerations while caring for CF patients.

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