Adult Care in Cystic Fibrosis

Abstract

Cystic fibrosis (CF) is now more common in adults than children in countries with well-developed health care systems. The number of adults continues to increase and will further increase if the new cystic fibrosis transmembrane conductance regulator (CFTR) modulators are disease modifying. Most of the complex morbidity and almost all the mortality of CF occur in adults and will increasingly follow this pattern even with new effective modulator therapies. Maintaining good quality of life including social functioning and maximizing survival for adults are the key priorities. This requires a highly knowledgeable and adaptable multidisciplinary team, which, though focused on maintaining lung health, requires an increasing range of other disciplines and specialties to maximize well-being. Changes in health care systems will require current models of care to adapt to provide care for the large number of adult patients. With increasing survival and age, many are likely to have both CF morbidities and additional diseases of aging. New models are needed for health care delivery for this expanding population with complex medical conditions.

Modulator treatment for people with cystic fibrosis: moving in the right direction

“…These drugs are progressively transforming the quality of life of people with CF and demonstrate improvements in important surrogates of survival, FEV 1 and pulmonary exacerbation frequency [3]. There is also a useful biomarker of response, sweat chloride concentrations, which is useful in stratified groups but less helpful in predicting individual responses.…”

The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition

“…In 2019, about 80,000 patients were registered as having cystic fibrosis (CF) in the United States and Europe (1). The clinical diagnosis of CF during adulthood is a difficult because: 1) the vast majority of patients do not undergo neonatal screening, especially in Peru; 2) systemic manifestations are usually infrequent; and 3) bronchiectasis-like lung lesions and chronic respiratory symptoms due to functional compromise are usually considered as pulmonary tuberculosis or as secondary lesions (2).…”

“…The latter is very frequent in countries such as Peru where the prevalence of tuberculosis is high. Adults with CF may have a residual function of the gene involved in CF, and thus, the sweat chloride test with pilocarpine (gold standard test) is usually not positive, leading to indeterminate results (3,4), making molecular biology studies necessary to achieve a definitive diagnosis (1,5).…”

COVID-19 and Cystic Fibrosis: Diagnostic Difficulties or Incorrect Methods?

“…Until the year 2019, about 80,000 patients with cystic fibrosis (CF) corresponding to the United States and Europe were registered, the number of CF patients in America is not precisely known (1). CF patients have multiple events of viral, fungal, and bacterial infections throughout their lives, with chronic diseases due to Pseudomonas aeruginosa, Burkholderia cepacia, and Staphylococcus aureus being the most frequent.…”

“…CF patients have multiple events of viral, fungal, and bacterial infections throughout their lives, with chronic diseases due to Pseudomonas aeruginosa, Burkholderia cepacia, and Staphylococcus aureus being the most frequent. These recurrent infections are associated with pulmonary exacerbations (PE) that are the leading cause of death in CF 1,2 . Viral infections are estimated to cause between 10 to 60% of PE.…”