At least 100,000 people globally have a genetically inherited disease called cystic fibrosis which affects the lungs, pancreas, and other organ systems. While there is no cure, we do have management strategies that can help. And thanks to many medical advances, the median survival age in the United States has risen to nearly 50 years.
In this article, we’ll explore the condition in depth and uncover strategies to manage the symptoms of cystic fibrosis holistically. We’ll start with an overview of cystic fibrosis, covering causes, symptoms, and treatments, and then delve into the crucial role of nutrition—especially sodium—in managing the condition.
What Causes Cystic Fibrosis and its Symptoms?
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) genes cause cystic fibrosis.
Specifically, each person inherits two CFTR genes—one from each parent. If both parents pass down a mutated gene, the child is born with cystic fibrosis. If only one parent passes down a mutated gene, the child will carry the mutated gene plus one healthy gene. Though that person won’t have cystic fibrosis, they may one day pass the mutation on to their children. That’s why genetic testing is the best way to assess a child’s risk of developing cystic fibrosis.
Mutations in the CFTR gene can be remarkably detrimental to its role in fluid balance. When functioning as expected, the gene helps facilitate the transport of sodium, chloride, and bicarbonate, which play an important role in balancing the water inside and outside of our cells. But in folks with cystic fibrosis, the CFTR gene’s mutation inhibits the flow of electrolytes and the water they attract. Without sufficient water to help clear it, mucus that naturally occurs around organs becomes thick and sticky, causing it to build up.
This mucus buildup traps in germs, jams airways, and creates conditions ripe for inflammation and infection. This eventually leads to cysts (fluid-filled sacs) and fibrosis (scar tissue) in the lungs, and presents complications in the pancreas, liver, intestines, and other organs.
What’s more, people with cystic fibrosis lose much more sodium via sweat than others, which can result in significant sodium imbalances if left unaddressed. More on that later. First, let’s briefly cover cystic fibrosis diagnosis and symptoms.
Screening and Testing for Cystic Fibrosis
All children born in United States hospitals today are screened for cystic fibrosis. Some tests screen for a chemical called immunoreactive trypsinogen, while others test DNA. In any case, early detection is crucial to stave off the worst effects of cystic fibrosis by intervening with diet and lifestyle strategies, as well as medication.
Adult screening is also available. (Some folks have a milder form of the disease called atypical cystic fibrosis that slips undetected into adulthood—more on this in the next section.) The standard genetic test looks for the 23 most common CFTR mutations, covering 99% of genes that cause cystic fibrosis. Diagnosis may also involve a sweat test, with higher sweat electrolyte concentrations indicating a higher likelihood of the disease.
Classical vs Atypical Cystic Fibrosis
There are two main categories of cystic fibrosis: classical and atypical.
Mutations in the CFTR gene cause both forms of the disease, but classical cystic fibrosis is more severe and affects multiple organ systems. It’s usually diagnosed via newborn screening or symptoms that present early in childhood.
Atypical cystic fibrosis, on the other hand, is generally milder and often only affects the lungs, with up to 10% of people experiencing no symptoms at all. Consequently, the diagnosis is often missed or made well into adolescence or adulthood. To be clear, these patients are born with cystic fibrosis—it’s an inherited condition, you can’t contract it—but the milder symptoms are often passed over until later in life.
This doesn’t mean atypical cystic fibrosis should be taken lightly. Although these folks have longer life expectancies than folks with classical cystic fibrosis, there’s still much we don’t know about this form of the disease. It can carry the same complications of the classical form—they just tend to be milder.
Compared with classical cystic fibrosis, atypical cystic fibrosis may:
- Affect only one organ system (most commonly, the lungs)
- Carry milder symptoms or no symptoms at all
- Come back negative for cystic fibrosis on a sweat chloride test
- Present with only 1 (vs. 2) severe mutations in the CFTR gene
If you think you might have undiagnosed cystic fibrosis, seek the guidance of a qualified medical professional.
Symptoms of Cystic Fibrosis
The most common respiratory symptoms of cystic fibrosis include wheezing, coughing, congestion, and breathing problems. But since mucus buildup can impact many organs, the issues often extend beyond the lungs.
These can include fever, night sweats, sinus infections, gastrointestinal issues, fatigue, jaundice, clubbed fingers or toes, low weight, joint pain, muscle pain, delayed growth or puberty, male infertility, and potentially also female infertility. Patients are also at risk for pancreatic insufficiency, liver disease, intestinal disease, bone disease, diabetes, and mental health difficulties.
To be clear, the symptoms of cystic fibrosis depend on the severity of the disease. Patients with classical cystic fibrosis tend to present with lung issues, pancreatic insufficiency, and malnutrition early in life. Conversely, people with atypical cystic fibrosis may not have noticeable symptoms until adulthood. These symptoms usually affect the lungs—often only the lungs—but can also impact the gastrointestinal, endocrine, and reproductive systems. Again, it’s a tricky diagnosis, so seek medical advice.
Medical Treatments for Cystic Fibrosis
If you believe you or a loved one has cystic fibrosis, it’s best to consult a specialist. Treatment options include airway clearance techniques (including vibration devices to loosen lung congestion), pharmaceuticals, and, in severe cases, organ transplants.
Here are the primary pharmaceuticals prescribed for cystic fibrosis:
- CFTR modulators improve lung function and other symptoms by acting on the genetic roots of the condition.
- Mucus thinners loosen congestion.
- Bronchodilators open the airways.
- Antibiotics are used in the case of bacterial lung infections.
- Anti-inflammatories reduce complications in the lungs and elsewhere.
Let’s shift to nutrition now.
Nutritional Strategies for Cystic Fibrosis
Maintaining sufficient weight can be a big challenge for cystic fibrosis patients. Not only do these folks have trouble absorbing nutrients due to pancreatic insufficiency, but they also burn more energy due to breathing difficulties. Malnourishment can lead to stunted growth in children and worse lung function throughout life.
There’s much to consider regarding proper nutrition for cystic fibrosis, but the fundamental principles are to ensure you’re getting enough calories, consuming a nutrient-dense diet, and supplementing any dietary deficiencies.
According to the Cystic Fibrosis Foundation, patients may need twice the daily calories of a person of similar weight and age. Ideally, these calories should come from nutritious whole foods, with at least 20% coming from protein to maintain muscle mass.
Protein isn’t the only nutrient to pay special attention to. People with cystic fibrosis also tend to be deficient in:
- Fat-soluble vitamins like A, D, K, and E
- Essential fatty acids like EPA and DHA
- Pancreatic enzymes
- Minerals like zinc, iron, calcium, selenium, and sodium
Here are the evidence-based recommendations for people with cystic fibrosis:
- Vitamin A: The need for supplementation with retinol and beta-carotene (forms of vitamin A) depends on blood levels. Dose recommendations vary considerably.
- Vitamin D: The need for supplementation depends on blood levels. For adults, guidelines suggest 800–4000 iu per day to correct deficiency. Infants and children should start lower.
- Vitamin K: 0.3–1.0 mg daily for infants and 1–10 mg daily for children and adults.
- EPA and DHA: While dietary EPA may improve lung function and omega-3 supplements may reduce inflammation, current evidence isn’t sufficient for blanket recommendations.
- Pancreatic enzymes: 2000–4000 U lipase per gram of dietary fat consumed.
- Zinc: Supplement up to 15 mg daily for children up to age 18 and 25 mg daily for adults.
- Iron: Focus on reducing chronic inflammation to bring iron levels up naturally. If deficiency persists, supplement accordingly.
- Calcium: Daily recommended intakes vary by age, but about 1 gram daily is a good target for adults.
- Selenium: Supplementation is not advised.
Sodium is especially important and needs vary significantly depending on your lifestyle, so we’ll take a closer look at sodium in the next section.
Cystic Fibrosis and Sodium
Folks with cystic fibrosis have 2–4 times saltier sweat than the average Joe. Consequently, they need to consume more sodium to help support fluid balance and prevent headaches, fatigue, cramps, brain fog, and other low-sodium symptoms.
Consuming adequate amounts of sodium is especially crucial for infants, who are at risk of stunted growth from sodium deficiency. And while sodium needs vary by situation and individual, evidence-based guidelines suggest up to 92 mg per kg of body weight for infants. For adults, it’s recommended to eat salty foods and take salt capsules on days full of sweaty activities. Electrolyte drinks with significant sodium content can help too.
If you have cystic fibrosis and want to estimate your sodium needs during exercise, read up on how to calculate your sweat rate and how to measure your sweat sodium concentration. This can help you get a sense for your sodium needs during sweaty activities. And pay attention to how you feel—there’s no substitute for listening to your body.
A Holistic Approach to Managing Cystic Fibrosis
Everyone’s experience with cystic fibrosis is unique, and there’s so much that people can’t control about this condition. What they can do is eat a nutritious whole foods diet, exercise to improve lung health, replace sodium lost via sweat, and work with a trusted medical professional to develop a specialized treatment program.
Cystic fibrosis is a complex, incurable disease, it’s true. We’re still learning about this condition, but my hope is that this article adds to the knowledge base for anyone out there learning to manage their symptoms.