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A Comprehensive and Integrative Approach to Cystic Fibrosis

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A Comprehensive and Integrative Approach to Cystic Fibrosis

Cystic fibrosis (CF) is like waking up each day with a mountain to climb, a relentless genetic condition that primarily affects the lungs, pancreas, and several other organs. In the United States, close to 40,000 children and adults confront this reality daily, and globally. Its presence is evident across 94 countries, touching an estimated 105,000 lives. The reach of CF knows no racial or ethnic bounds. Each person's journey with CF is unique, reflecting their distinct challenges and experiences. 

In this article, we will discuss what cystic fibrosis is, what its symptoms are, and why some people develop this disorder while others don't. In addition, we will cover a holistic, functional medicine approach to treatment that covers testing, lifestyle, nutrition, and alternative therapies. 


What is Cystic Fibrosis?

Cystic fibrosis is a genetic condition that individuals inherit from their parents. In people who do not have CF, the mucus lining parts of the body, such as the lungs and nose, is typically slippery and fluid, helping it trap and remove harmful particles. However, for those with CF, this mucus transforms into a thick, sticky substance that blocks various channels in the body, leading to several complications. While it is commonly diagnosed in children within their initial years, there's also a milder form of the disease called "atypical cystic fibrosis." This milder variant can emerge later in life and may affect only a single organ, distinguishing it from the more typical form.

The thick mucus in patients with CF impacts multiple organs. In the lungs, it obstructs airways, creating an environment where bacteria thrive, leading to infections and chronic inflammation. Over time, these respiratory issues can become severe and are frequently the main cause of death for CF patients. In the pancreas, the mucus prevents the release of vital digestive enzymes, hindering the body's ability to absorb nutrients and leading to issues like malnutrition and greasy stools. 

In severe situations, these trapped enzymes might start digesting the pancreas itself, bringing about complications that mirror type-1 diabetes. The mucus can also block the biliary ducts, potentially leading to liver conditions and complications such as gallstones. Furthermore, obstructions in the intestines caused by CF can result in constipation and abdominal discomfort. An unusual aspect of CF is its effect on sweat glands; rather than reabsorbing salt, these glands release excessive amounts onto the skin, making it particularly salty.

Cystic Fibrosis Signs & Symptoms

Cystic fibrosis is characterized by a range of symptoms that can vary between classic and atypical forms (2): 

Classic CF primarily affects children, with symptoms including:

  • Failure to thrive and slow growth despite adequate food intake.
  • Loose or oily stools.
  • Respiratory difficulties, such as trouble breathing, recurrent wheezing, frequent lung infections (notably pneumonia and bronchitis), and a persistent cough.
  • Ongoing sinus infections. 

Atypical CF tends to be diagnosed in adults and can present with:

  • Respiratory issues like chronic sinusitis, breathing problems, nasal polyps, and frequent bouts of pneumonia.
  • Dehydration or heat strokes due to abnormal electrolyte levels.
  • Digestive problems, including diarrhea and pancreatitis.
  • Fertility challenges and unintended weight loss. 

Across different life stages, CF may manifest various physical symptoms (4): 

  • Newborns: Meconium ileus, extended neonatal jaundice, or early lung infections.
  • Infants and children: Anemia, undescended testicles in boys, and recurrent sinopulmonary infections.
  • Adults: Symptoms can exacerbate, with a range of manifestations:
  • Respiratory: Chronic bronchitis, bronchiectasis, allergic bronchopulmonary aspergillosis, and Pseudomonas aeruginosa colonization.
  • Digestive: Pancreatic insufficiency and early-onset diabetes.
  • Hepatobiliary: Conditions like cholelithiasis and liver cirrhosis.
  • Musculoskeletal: Kyphoscoliosis and osteopenia/osteoporosis.
  • Dermatologic: "Salty sweat," digital clubbing, and malabsorption-related conditions.
  • Reproductive: Male infertility due to absent vas deferens and thickened cervical mucus in females.

The wide range of symptoms underscores the complexity of this genetic disorder and its potential impacts throughout a person's life. 

What Causes Cystic Fibrosis?

Cystic fibrosis is fundamentally a genetic condition arising when an individual inherits two faulty genes related to the disease, one from each parent. In order for the disease to manifest itself, both gene variants are required, making CF a recessive condition. While parents can pass on the gene, they might not necessarily display CF symptoms. Many families might not have any prior history of the disease. In such instances, an individual possessing the gene variant without showing any symptoms is termed a "carrier." In the U.S., roughly 1 in 31 people are carriers devoid of any CF symptoms (2).

The root cause of CF is attributed to a genetic mutation in a specific gene located on chromosome 7. This gene is responsible for coding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which plays a pivotal role as a transmembrane cAMP-activated chloride channel. For the clinical disease to manifest, mutations need to be present in both copies of the gene (4).

Over 2,000 different mutations have been identified in the CFTR gene. These mutations can lead to various issues such as defective protein synthesis, where the gene doesn't produce the CFTR protein correctly; defective protein processing, where, even if synthesized, the CFTR protein isn't processed or folded correctly; disordered regulation, where the normal regulatory mechanisms are disrupted; defective chloride conductance where the CFTR protein can't transport chloride ions across cell membranes, causing mucus to become thick and sticky; and accelerated channel turnover where the CFTR protein is broken down too quickly (4).

Functional Medicine Labs to Help Individualize Treatment Plans For Patients With Cystic Fibrosis

Functional medicine labs offer a variety of tests that can help tailor treatment to patients, allowing providers to optimize management strategies.

Stool Testing - Gut Zoomer 3.0

This test can be particularly useful for CF patients. By examining pancreatic elastase 1, it can detect exocrine pancreatic insufficiency (EPI), a frequent CF complication. Monitoring EPI is vital as pancreatic function is often compromised in CF, leading to issues digesting and absorbing nutrients. 

The test also checks for the amount of fat in a stool sample; elevated levels could indicate a malfunctioning digestive system, another common concern in CF. Additionally, the presence of Lactobacillus reuteri is essential to note because studies have shown its potential to reduce pulmonary exacerbations in CF patients. 

Furthermore, the measurement of zonulin levels can provide insights into the integrity of the gut barrier. Elevated zonulin levels suggest an increased intestinal permeability, commonly referred to as "leaky gut." Chronic low-grade inflammation and alterations to the gut microbiota are hallmarks of CF, and a compromised gut barrier can further exacerbate systemic inflammation and possibly affect lung health.

Inflammatory Testing

Hs-CRP is a marker of inflammation. Studies have demonstrated that CF patients with elevated baseline hs-CRP levels usually have poorer clinical outcomes and quality of life scores. As such, monitoring hs-CRP levels allows practitioners to gauge the systemic inflammatory response, tailor treatments accordingly, and possibly predict and prevent exacerbations or declines in lung function.

Micronutrient and Organic Acids Testing

This test is a comprehensive choice for CF patients for several reasons. Given the malabsorption issues common in CF due to pancreatic insufficiency and intestinal inflammation, these patients are at a higher risk of nutrient deficiencies. This test can identify deficiencies in essential nutrients, enabling tailored supplementation and dietary adjustments. The organic acid component offers a deeper dive into metabolic processes, potentially uncovering other factors contributing to inflammation, imbalances in neurotransmitter precursors, and disturbances in energy metabolism, all of which can be particularly pertinent in the CF population (11).

Additional Labs 

Additional lab tests for cystic fibrosis patients often include lung function assessments, which evaluate the capacity and efficiency of the lungs by measuring aspects like airflow and gas exchange. Patients typically use dedicated devices for these tests, which are crucial for monitoring lung complications and shaping treatment strategies (8). 

Sputum cultures are another essential test, where the mucus coughed up from the lungs is examined to identify potential bacteria or pathogens causing respiratory issues. Additionally, chest X-rays are used, harnessing electromagnetic energy beams to produce images of internal organs and tissues, providing a visual insight into the state of the lungs and chest cavity (8). 


Conventional Treatment for Cystic Fibrosis

Cystic fibrosis treatment involves a specialized healthcare team focused on managing the disease, as there's no cure. Key treatments include techniques and devices to keep airways clear, such as special coughing methods, therapy vests, and postural drainage with percussion. Medications, including antibiotics, bronchodilators, mucus thinners, and anti-inflammatories, are prescribed to alleviate symptoms and tackle CF-related issues. Some patients might also require surgeries, ranging from nasal procedures to transplants, to address complications (2). 

Functional Medicine Treatment for Cystic Fibrosis

Functional medicine approaches to CF aim to utilize a comprehensive and patient-centered model, looking beyond traditional symptom-based treatments. These strategies integrate conventional medical practices with holistic and personalized therapies, including dietary modifications, gut health optimization, and targeted supplementation. 

A functional medicine perspective for CF seeks to understand the interplay between genetic, environmental, and lifestyle factors influencing the disease's progression and manifestations. The primary objective is to devise a tailored therapeutic plan that addresses the root causes and unique challenges of each CF patient, ensuring holistic health improvement and enhanced quality of life.

Nutrition Guidelines For Cystic Fibrosis Patients

People with CF have historically been directed towards a specific nutritional path characterized by high-calorie, high-fat diets. The basis for such recommendations was grounded in the unique metabolic demands of CF patients. Due to their condition, they expended more energy on activities such as breathing, combating lung infections, and maintaining physical strength (2). 

Furthermore, CF impairs the digestive enzymes of the pancreas, which consequently affects the absorption of nutrients and fats in the intestines. Even when digestion is aided by enzyme capsules, a notable fraction of nutrients and fats fail to get absorbed. This not only compromises the absorption of essential fat-soluble vitamins that shield the lungs but also necessitates a more calorically dense diet to meet energy requirements. Maintaining a weight higher than the average from early childhood was always emphasized for young CF patients, with studies suggesting it directly impacts their overall growth and onset of puberty (2). 

However, CF's nutritional landscape is undergoing significant shifts. There's emerging evidence suggesting that the once-revered high-fat, high-calorie diet may no longer be the gold standard for all CF patients. The traditional high-calorie, high-fat diet, once deemed indispensable for CF patients, might now be inadvertently fueling the obesity epidemic within this group due to advancements in CF therapies and their increased lifespan. Research indicates that, except in scenarios necessitating high energy intake from a limited food volume, the high-fat legacy might not offer any distinct advantage.

In tandem with the evolution of CF therapies, especially the introduction of CF transmembrane conductance regulator (CFTR) modulator therapies, new nutritional challenges have surfaced. Overweight and obesity issues, once considered peripheral concerns in CF care, are now gaining prominence. Such challenges underscore the importance of reassessing the dietary guidelines for CF patients, ensuring they align with their changing health landscape.

Furthermore, a study assessing diet quality in CF patients, utilizing the Healthy Eating Index, unveiled startling insights. It seems young CF adults aren't adhering to the U.S. Dietary Guidelines, as reflected in their subpar scores across various dietary components. Given these findings, it's imperative to re-evaluate the dietary guidance for CF patients. This would involve navigating a delicate balance: addressing their unique nutritional needs while simultaneously promoting general health and staving off obesity. The burgeoning prevalence of overweight conditions among CF patients only amplifies the urgency for this dietary revision.

Supplements & Herbs That Help Support Cystic Fibrosis Patients

Patients with CF often explore various supplements and herbs to manage and potentially alleviate certain symptoms of their condition. One study revealed that Lactobacillus reuteri supplementation significantly reduced the number of pulmonary exacerbations and upper respiratory tract infections in CF patients with mild-to-moderate lung disease. Conversely, creatine supplementation in another study enhanced maximal isometric muscle strength and improved general well-being in CF patients, even though it didn't demonstrate changes in lung function or sweat electrolyte concentrations. Notably, the CF transmembrane conductance regulator (CFTR) relies on ATP, and creatine supplementation potentially aids in ATP availability, despite the limited activity of creatine kinase in respiratory epithelia (9).  

Other common supplements include omega-3s and zinc, although benefits for CF patients have been shown to be limited and inconclusive, respectively. The GROW study, which investigated the impacts of oral glutathione on the nutritional status of children with CF, found no significant improvement in growth or inflammatory markers. 

Teas, such as ginger, mint, and thyme, have been traditionally used for various health benefits like calming nausea or acting as expectorants. While some of these claims are backed by research, others need further investigation. For instance, teas like eucalyptus, marketed as expectorants, require more evidence to substantiate their efficacy. Additionally, it's important to note that not all herbal remedies are suitable for everyone, with certain herbs posing risks to specific groups, such as children (20).

All in all, it's essential for CF patients to be regularly tested and subsequently supplemented for any micronutrient deficiencies they may have, as micronutrient deficiencies have historically been a common occurrence in this population. 

Complementary and Integrative Medicine for Patients with Cystic Fibrosis

Complementary and alternative medicine therapies have grown in popularity among patients with CF. Holistic practices encompass a broad range of therapies. Aromatherapy, yoga, massage, acupuncture, meditation, chiropractic, essential oils, reflexology, and reiki are all popular choices among CF patients. Notably, these practices seem to complement conventional treatments without interference and often offer relief from pain, anxiety, and depression. The emotional and physical relief that these therapies provide can be crucial in managing the overall well-being of CF patients. In some regions, certain therapies are even incorporated into hospital care for CF patients. However, it's essential to use products like scented candles with caution, especially for those with respiratory issues (20).

Air purifiers and humidifiers are also frequently used tools, especially in households with CF patients. These devices can be particularly beneficial for removing allergens and ensuring the air is moist enough for CF patients, making breathing more comfortable. Maintaining air quality is paramount for individuals with CF, as cleaner air can directly influence their respiratory health (20).

Exercise training has shown promise in enhancing muscle strength in young CF patients, even though the quality of the evidence is still relatively low. This suggests that physical activity can be an adjunctive tool for improving physical health in these individuals. However, more high-quality studies are needed to further validate these findings.

Moreover, therapies such as acupuncture have demonstrated potential in pain management for CF patients, adding to the list of non-traditional treatments that can be beneficial. The integration of treatments like acupuncture signifies a move toward more holistic health management for CF patients.

Lastly, mindfulness and related practices can play a significant role in patient health, irrespective of the disease stage or type. These practices not only offer relief from symptoms but can also enhance coping mechanisms and overall quality of life. As the prevalence of chronic conditions increases globally, integrating mindfulness practices into healthcare could prove crucial for patient well-being.



Cystic fibrosis is a genetic disorder that affects the respiratory and digestive systems due to mutations in the CFTR gene. As the medical community seeks a holistic approach to managing CF, functional medicine, which delves into an individual's lifestyle and environment, offers a comprehensive perspective.

While lab testing and diet are components of treatment, it's not the sole focus. Complementary and alternative medicine methods, such as acupuncture and mindfulness, offer additional relief and support. Used alongside traditional CF treatments, they provide a more well-rounded approach, emphasizing personalized, patient-focused care.

The information provided is not intended to be a substitute for professional medical advice. Always consult with your doctor or other qualified healthcare provider before taking any dietary supplement or making any changes to your diet or exercise routine.
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