Information about the disease
Cystic fibrosis is a congenital, serious hereditary multi-organ disease caused by mutations that result in defects in the salt and water transport in the body's cells. This defect leads, among other things, to thick mucus in the lungs that creates a breeding ground for infections. This primarily affects the lungs, the pancreas, and the gastrointestinal tract. The disease can cause breathing difficulties, lung infections, and poor nutrient absorption.
In Norway, there are approximately 400 people with cystic fibrosis (as of 2024), and about 60 percent of these are over 18 years old. Symptoms of cystic fibrosis can include chronic cough, shortness of breath, blocked sinuses, digestive problems, and weight loss. The biggest complication of cystic fibrosis is recurrent and chronic lung infections that over time destroy the lungs. Cystic fibrosis also affects stomach and intestinal function, and if untreated, the disease leads to poor nutrient absorption.
Many individuals with CF require digestive enzymes in tablet form to properly break down food and ensure adequate nutrient absorption. The disease can also cause diabetes and impair liver and kidney function.
Managing cystic fibrosis often involves 1-2 hours of daily treatments, along with frequent hospitalizations and regular medical check-ups. While the disease generally worsens over time, there is considerable variation in its progression, with some individuals experiencing severe symptoms and others leading relatively normal lives.
Life stages
Incidence and Diagnosis
Each year, 8-10 children are born with cystic fibrosis (CF) in Norway, and as of 2018, around 370 people in the country are living with the disease. Diagnosing CF can be a lengthy process involving various tests and may occur at any age. Since 2012, CF has been included in Norway's expanded newborn screening program. The diagnosis relies on genetic testing, sweat tests, and clinical evaluation of symptoms.
Genetics
The CF gene, located on chromosome 7, was discovered in 1989. This gene contains a mutation that leads to cystic fibrosis. It is responsible for producing the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, which plays a crucial role in regulating salt and water transport across cell membranes in the lungs and digestive system. The mutation impairs the CFTR protein's function, resulting in thick, sticky mucus in the airways and intestines. These areas experience the most severe effects of the disease. As of 2023, over 2,500 genetic variants of the CF gene have been identified, categorized into five classes based on the severity of the disease.
Variations - Classic and Atypical Cystic Fibrosis
Recent discoveries have identified new mutations that cause milder or atypical forms of cystic fibrosis (CF). As a result, we now differentiate between "classic cystic fibrosis" and "atypical cystic fibrosis."
Atypical CF is a less severe form of the disease linked to mutations in the CFTR gene. Unlike classic CF, individuals with atypical CF often experience mild dysfunction in only one organ system, rather than multiple systems. They may or may not have elevated chloride (salt) levels in their sweat. Atypical CF can vary widely in how it affects different organ systems.
While our resources primarily cover classic CF, our services are available to everyone with CF, regardless of the form or severity. We plan to provide more information on atypical CF in the future.
Lung complications - Thick mucus and infections
The most serious complication of cystic fibrosis (CF) involves the lungs. Due to the defective protein, the mucus in the lungs becomes unusually thick and sticky, making it difficult for the body to clear it effectively. This trapped mucus creates an ideal environment for bacteria to grow, leading to frequent lung infections. These infections require aggressive treatment with antibiotics, guided by microbiological cultures and resistance patterns.
Repeated or chronic lung infections are particularly dangerous because they cause scarring of the lung tissue and reduce lung capacity over time. For some individuals, the lung damage becomes so severe that a lung transplant is needed for survival. Since 1990, more than 40 people with cystic fibrosis have undergone lung transplantation.
Digestive system - Importance of maintaining good nutrition
The genetic defect associated with cystic fibrosis (CF) disrupts the absorption of proteins and fats in the intestines, which can make it difficult to maintain weight and height and lead to overall poor health. To address this, many people with CF need to take digestive enzyme supplements with their meals to help their bodies absorb nutrients more effectively. The disease can also lead to CF-related diabetes and liver issues. Therefore, maintaining a proper and balanced diet is crucial for managing CF and ensuring optimal nutritional status.
Living with CF
Dealing with a chronic and serious illness like cystic fibrosis (CF) affects both individuals and their families, and the period around diagnosis can be particularly challenging. CF impacts many areas of life and can sometimes lead to feelings of difficulty, isolation, and loss. However, with proper management and attention to health, people with CF can still experience many of life’s joys, such as traveling, working, and starting a family.
Do you have questions or want to hear about others’ experiences in managing the challenges of living with CF? Use our closed Facebook groups, or contact one of our peer supporters, who are happy to share their experiences of living with or supporting someone with CF. Membership in the groups is granted by invitation or upon request, and you must either have CF yourself or be a close relative of someone with CF. We encourage all members admitted to the groups to join NFCF.
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