cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system, leading to thick, sticky mucus and high-salt sweat. The condition is caused by pathogenic variants in the CFTR gene and is inherited in an autosomal recessive pattern. It is typically identified in early childhood, often through newborn screening, with a birth prevalence estimated at 1 in 2,500 to 3,500 in Caucasian populations. With current standards of care, CF is managed as a life-long condition with a wide range of clinical presentations.

The clinical presentation of cystic fibrosis is multi-system and can vary considerably between individuals. Characteristic findings include an elevated sweat chloride concentration, which is diagnostic, and recurrent pulmonary infections that may lead to bronchiectasis and reduced lung function. In many cases, children present with failure to thrive, meconium ileus in the newborn period, and signs of exocrine pancreatic insufficiency such as steatorrhea and malabsorption. Other features include salty tasting skin, chronic sinusitis, clubbing of the fingers, and episodes of pancreatitis. Not all individuals experience all features, and severity varies widely.

Cystic fibrosis is caused by pathogenic variants in the CFTR gene, which disrupts the normal function of an ion channel responsible for regulating the movement of salt and water in and out of cells. This disruption leads to abnormally thick mucus secretions affecting primarily the lungs and digestive system. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited one altered copy of the gene from each parent. Families may benefit from genetic counseling to understand recurrence risks and carrier status, with carrier frequencies reported at approximately 1 in 25 to 30 among individuals of European descent.

Management of cystic fibrosis involves a comprehensive, multidisciplinary approach that addresses both respiratory and digestive manifestations. Foundational therapies include airway clearance techniques such as chest physiotherapy and vest therapy, pancreatic enzyme replacement, nutritional supplementation with fat-soluble vitamins, and the use of inhaled mucolytics and hypertonic saline to thin mucus. In addition, FDA-approved treatments that target the underlying molecular defect, including ORKAMBI, KALYDECO, SYMDEKO, TRIKAFTA, and ALYFTREK, are available for eligible patients. Regular surveillance is an essential part of long-term care, with routine monitoring conducted by specialists such as pulmonologists, gastroenterologists, endocrinologists, and nutritionists to detect complications early and adjust therapy as needed. Patients should discuss treatment options and management strategies with their healthcare team to tailor therapy to their specific situation.

The course of cystic fibrosis is highly variable, with many individuals experiencing a range of outcomes depending on symptom severity, age of diagnosis, and access to comprehensive care. With modern management strategies and the availability of targeted CFTR modulator therapies, many patients are living longer lives and enjoying improved quality of life compared to historical descriptions. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors to better understand the condition and navigate treatment and support options.

Cystic fibrosis remains an active area of research with numerous ongoing clinical trials exploring new CFTR modulators, gene therapy approaches, mRNA therapy, and novel anti-inflammatory strategies. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility and emerging treatments.