cystic fibrosis (cf)

Issue

Vol. 1 No. 1 (2024)

Date Log

Submitted
June 24, 2024
Accepted
June 29, 2024
Published
June 29, 2024

Unveiling Cystic Fibrosis: Causes, Symptoms, Complications and Treatment Options

https://doi.org/10.69512/ajphi.v1i01.52
Himal Bikram Bhattarai, MD
Department of Internal Medicine, Dubai London Hospital, Dubai, United Arab Emirates
Prabha Bhandari, MD
Kathmandu University School of Medical Sciences, Dhulikhel, Nepal
https://orcid.org/0000-0002-1601-5579
Pradeep Khatiwada, MD
B.P. Koirala Institute of Health Sciences, Dharan, Nepal

Corresponding Author(s) : Himal Bikram Bhattarai, MD

himalbikrambhattarai@gmail.com

The American Journal of Patient Health Info, Vol. 1 No. 1 (2024)

Abstract


  1. Cystic fibrosis is a progressive genetic condition causing thick, sticky mucus buildup in organs like the lungs and digestive system.

  2. Cystic fibrosis occurs due to the mutation in the Cystic Fibrosis Transmembrane conductance Regulator(CFTR) gene inherited from both parents.

  3. Symptoms of cystic fibrosis vary and can include chronic cough, wheezing, greasy stool, lung infection, and poor growth.

  4. The Sweat Test is used to diagnose Cystic Fibrosis. It checks for the amount of chloride in one's sweat.

  5. While there's no cure for cystic fibrosis, treatment focuses on symptom management, such as ensuring clear airways and maintaining proper nutrition through medications, therapies, and sometimes surgery.

Keywords

Autosomal Recessive Lung transplantation Cystic Fibrosis Genetic Testing CFTR gene
Bhattarai, MD, H. B., Bhandari, MD , P., & Khatiwada, MD, P. (2024). Unveiling Cystic Fibrosis: Causes, Symptoms, Complications and Treatment Options. The American Journal of Patient Health Info, 1(1). https://doi.org/10.69512/ajphi.v1i01.52
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References
  1. American Lung Association. Learn About Cystic Fibrosis | American Lung Association [Internet]. www.lung.org. 2020. Available from: https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/learn-about-cystic-fibrosis
  2. Cystic Fibrosis: Causes, Symptoms, Diagnosis & Treatments. Cleveland Clinic. 2021. Available from: https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis
  3. National Heart, Lung and Blood Institute. Cystic Fibrosis - Diagnosis | NHLBI, NIH [Internet]. www.nhlbi.nih.gov. 2022. Available from: https://www.nhlbi.nih.gov/health/cystic-fibrosis/diagnosis
  4. Mayo Clinic. Cystic Fibrosis - Diagnosis and Treatment - Mayo Clinic. Mayoclinic.org. Mayo Clinic; 2021. Available from: https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706
  5. Laselva O, Guerra L, Castellani S, Favia M, Di Gioia S, Conese M. Small-molecule drugs for cystic fibrosis: Where are we now? Pulm Pharmacol Ther 2022;72:102098.
  6. Airway Clearance [Internet]. www.hopkinsmedicine.org. Available from: https://www.hopkinsmedicine.org/all-childrens-hospital/services/pulmonology/pediatric-cystic-fibrosis/programs-and-services/airway-clearance
  7. Pilewski JM. Update on Lung Transplantation for Cystic Fibrosis. Clin Chest Med 2022;43(4):821–40.
  8. Cystic Fibrosis Foundation. Nutritional Basics | Cystic Fibrosis Foundation [Internet]. www.cff.org. 2022. Available from: https://www.cff.org/managing-cf/nutritional-basics
  9. Mariotti Zani E, Grandinetti R, Cunico D, Torelli L, Fainardi V, Pisi G, et al. Nutritional Care in Children with Cystic Fibrosis. Nutrients 2023;15(3):479.
  10. Nutrition in Cystic Fibrosis. Johns Hopkins Cystic Fibrosis Center. Available from: https://hopkinscf.org/clinical-care/nutrition/
  11. Newborn Screening for CF | Cystic Fibrosis Foundation [Internet]. www.cff.org. Available from: https://www.cff.org/intro-cf/newborn-screening-cf#how-is-newborn-screening-done
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Himal Bikram Bhattaraia, Prabha Bhandarib, Pradeep Khatiwadac

a Department of Internal Medicine, Dubai London Hospital, Dubai, United Arab Emirates

b Kathmandu University School of Medical Sciences, Dhulikhel, Nepal

c B.P. Koirala Institute of Health Sciences, Dharan, Nepal

Background

Cystic fibrosis (CF) is a genetic disease that causes thick mucus and other fluids to build up and clog different parts of the body, including the lungs and digestive systems, leading to several health issues like chronic cough, trouble breathing, lung infection, greasy stool, and poor growth. CF is a lifelong condition that has no cure, but there are different treatments to help with symptoms and prevent further complications. CF impacts roughly 30,000 individuals in the United States and around 70,000 people globally, with its inherited multi-system nature leading to a reduced life expectancy. 1

Causes and Risk Factors for Cystic Fibrosis

CF is caused by an abnormal Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR gene). If you inherit the abnormal gene from both of your parents, you will develop CF, and if you inherit from only one parent, you will not have CF yourself, but you will just be the carrier of the gene. All ethnic groups can be affected by CF; however, it is more common in people of Northern European descent. 2

Symptoms of Cystic Fibrosis

CF can cause different symptoms related to involved system and with varying severity. Most people start experiencing symptoms as babies or young children, while some may not develop until they reach teens or adults. Some of you may have mild symptoms and a relatively normal life expectancy, while others may experience more severe complications affecting your quality of life and overall health. 2 CF mainly affects the respiratory, digestive, and reproductive systems.

Figure 1.

1. Respiratory Symptoms

Long-lasting cough, often with thick mucus, which is difficult to clear:

  • Frequent lung infections, such as bronchitis and pneumonia
  • Difficulty in breathing
  • Breathing that sounds like whistling (wheezing)

2. Digestive Symptoms

The thick fluids in the pancreas and liver keep the intestine from digesting and absorbing certain nutrients from food, leading to:

  • Poor weight gain or poor growth in children
  • Frequent, bulky, foul-smelling stools
  • Abdominal pain and discomfort
  • Greasy or oily stools
  • Pancreatitis (inflammation of the pancreas)

3. Reproductive Symptoms

Thickened mucus in your reproductive organs can cause fertility problems in both males and females. Infertility in males is due to blocked vas deferens (the tubes that carry sperm).

4. Other Symptoms

  • Salty-tasting skin (due to abnormally high salt levels in sweat).
  • Dehydration and electrolyte imbalances.

Diagnosis of Cystic Fibrosis

The diagnosis of CF typically involves:

Figure 2.

  • Sweat Test: This is one of the most common tests where your doctor checks for the amount of chloride in your sweat. People with CF can have about two to five times the normal amount of chloride in their sweat. In this test, the skin is stimulated to produce sweat, which is then absorbed in a special collector and analyzed.
  • Genetic Testing: Genetic testing is a way to determine if certain changes in the CFTR gene exist. It helps confirm if you have CF and identify the genetic changes causing it. This test might be done if a newborn screening shows a possible problem or if the doctor suspects CF based on symptoms. 3
  • X-rays: Chest X-rays or other imaging studies may be ordered to evaluate lung function and assess for signs of lung damage or infection, common in individuals with CF.
  • Computed Tomographic (CT): CT scans of the chest provide information regarding structural changes in the lungs and aid in planning treatment. CT scans provide detailed and precise images of the chest and abdomen and help assess lung health, detect complications, and evaluate sinus disease. In individuals with CF, CT scans can help identify abnormalities such as bronchiectasis, mucus plugs, lung infections, pneumothorax, and pleural effusion.
  • Lung Function Tests: The most popular lung function test uses a device known as a spirometer. You inhale fully and then force the breath into the spirometer's tip. This will help your doctor see how well you can breathe and monitor your lung health. 4
  • Other Laboratory Tests: Your doctor may perform additional tests to evaluate pancreatic function, nutritional status, and other CF-related organ systems. These tests may include pulmonary function tests, pancreatic enzyme tests, liver function tests, and blood tests to assess vitamin and mineral levels. 4

Complications of Cystic Fibrosis

Figure 3.

  • Respiratory Complications: CF can lead to chronic lung infections, inflammation, and progressive lung damage. Bronchiectasis is a common complication of CF, resulting in recurrent lung infections, coughing, wheezing, and shortness of breath. Chronic respiratory complications can lead to respiratory failure and the need for oxygen therapy or lung transplantation.
  • Gastrointestinal Complications: CF can cause pancreatic insufficiency, characterized by malabsorption of nutrients, poor growth, weight loss, and vitamin deficiencies. Cystic fibrosis-related diabetes may also develop due to damage to the pancreas. Meconium ileus, a blockage of the intestine in newborns, is another gastrointestinal complication of CF.
  • Nutritional Complications: Malabsorption of nutrients due to pancreatic insufficiency can result in malnutrition, poor growth, and failure to thrive in individuals with CF.
  • Sinopulmonary Complications: Chronic sinusitis, nasal polyps, and sinus infections are common sinus-related complications of CF, resulting from impaired mucus clearance and chronic inflammation of the nasal passages and sinuses.
  • Reproductive Complications: CF can affect reproductive health in both males and females. Congenital absence of the vas deferens is a common complication of CF in males, leading to infertility due to blockage of the sperm ducts. In females, CF-related complications may include delayed puberty, irregular menstrual cycles, and decreased fertility.
  • Liver Complications: CF-related liver disease, including hepatobiliary abnormalities, liver cirrhosis, and liver failure, can occur in individuals with CF. Liver complications may result from bile duct obstruction, inflammation, and scarring, leading to impaired liver function and complications such as jaundice, portal hypertension, and ascites.
  • Bone Complications: Individuals with CF may be at increased risk of developing osteoporosis and osteopenia due to factors such as malnutrition, chronic inflammation, and corticosteroid use.

Treatment of Cystic Fibrosis

The treatment of CF is comprehensive and aims to manage the symptoms, prevent complications, and improve the overall quality of life. Here are the key components of CF treatment:

Figure 4.

1. CFTR Modulators

CFTR Modulator drugs, such as ivacaftor (Kalydeco), lumacaftor/ivacaftor (Orkambi), and tezacaftor/ivacaftor (Symdeko), target underlying genetic defects. These modulator drugs can improve the function of the CFTR protein and may benefit individuals with specific CFTR mutations. The eligibility for these medications depends on your genotype and specific drug approvals in your region. 5

2. Supportive Medications

These medications aim to improve lung function, facilitate airway clearance, address nutritional deficiencies, and prevent or manage complications. Common supportive medications include:

  • Bronchodilators like albuterol to help open the airways and improve breathing.
  • Mucolytics like Pulmozyme to thin mucus and promote airway clearance, pancreatic enzyme. replacement therapy to aid digestion and nutrient absorption.
  • Fat-soluble vitamin supplements to address deficiencies.
  • Antibiotics to treat and prevent lung infections.

3. Physiotherapy

Physiotherapy is one of the most critical aspects of managing CF and mainly consists of airway clearance techniques. These techniques include clapping on the front and back of your chest, using positive expiratory pressure (PEP) therapy, high-frequency chest wall oscillation devices, and postural drainage of sputum. These techniques are typically performed multiple times daily and may vary based on your age and lung function. Besides airway clearance techniques, regular exercise and physical activity can further aid airway clearance and improve lung function and overall fitness. 6

4. Lung Transplantation

It is a treatment option reserved for individuals with CF who have advanced lung disease and are experiencing respiratory failure despite medical management. Lung transplantation involves replacing one or both diseased lungs with healthy donor lungs obtained from a deceased organ donor. While lung transplantation can improve quality of life and prolong survival in individuals with CF, it is associated with risks and complications, including rejection, infection, and side effects of immunosuppressive medications. Additionally, lung transplantation may not be suitable for all individuals with CF, and careful consideration of the risks and benefits is essential in determining candidacy for transplantation. 7

5. Psychosocial Support

Living with CF can be challenging, and you and your family may benefit from psychological and emotional support. Support groups, counseling, and mental health services can be valuable resources.

Role of Nutrition in Cystic Fibrosis

Nutritional assessment and support from your dietitian is crucial to ensure proper growth and weight maintenance. Here are some of the dietary tips for CF patients:

Figure 5.

  • High Calorie and High Fat Diet: Due to the difficulty digesting and absorbing nutrients and lipids from your diet, you require 1.5 to 2 times as many calories as those without the condition. A smart strategy will be to increase the number of calories in a snack you already had or add 300-500 calories. 8
  • Pancreatic Enzyme Replacement Therapy (PERT): Pancreatic enzyme replacement therapy (PERT) is a crucial part of CF management, helping to aid digestion and absorption of nutrients by replacing deficient pancreatic enzymes. PERT enables individuals with CF to better utilize nutrients from food and optimize nutritional status. 9
  • Vitamin and Mineral Supplements: People with CF usually require fat-soluble vitamin supplements (A, D, E, and K) to address the deficiencies of impaired fat absorption. Supplementation helps prevent deficiencies and ensure adequate intake of essential vitamins necessary for various physiological functions.
  • Salt Intake: There is no specific amount mentioned about salt. However, people with CF who play or exercise outside in hot weather might need to add 1/8 teaspoon of salt to 1 1/2 cups of a sports drink, such as Gatorade. Infants with CF should also get 1/8 teaspoon of salt daily until they are six months old and 1/4 teaspoon daily afterward.
  • Feeding Tube: CF impedes digestion, which makes it difficult to absorb nutrients from meals. Your physician might advise using a feeding tube to provide additional nourishment. This tube may be surgically installed in your belly, or it may be a temporary tube that is guided from your nose to your stomach. The tube doesn't stop mouthfeeding and can provide extra calories at any time of day or night. 10

Preconception Counseling and Newborn Screening

Preconception counseling plays a pivotal role in individuals with CF planning to start a family. This counseling offers insights into the risk of passing CF to offspring, reproductive options, and prenatal testing. Genetic counseling assists individuals in comprehending their carrier status, the likelihood of having a child with CF, and available family planning options like prenatal testing, preimplantation genetic diagnosis (PGD), and adoption. 11

Newborn screening (NBS) for CF aims to identify infants with CF shortly after birth for early diagnosis and intervention. The screening involves testing a blood sample from the newborn's heel for elevated levels of immunoreactive trypsinogen (IRT), often elevated in infants with CF. Infants who screen positive undergo further diagnostic testing, like sweat chloride and genetic testing, to confirm the diagnosis. Early diagnosis through NBS facilitates prompt initiation of CF-specific treatments and interventions, ultimately enhancing outcomes and quality of life for individuals with CF. 11

Questions To Ask Your Doctor

  1. Are all my kids at risk of getting cystic fibrosis?
  2. Are there any exercises that can improve my lung function?
  3. What conditions must I be alert to when living with cystic fibrosis?
  4. When do I need a lung transplant, and how would I know if I am eligible for it?
  5. Can cystic fibrosis recur after my Lung Transplantation?

References

  1. American Lung Association. Learn About Cystic Fibrosis | American Lung Association [Internet]. www.lung.org. 2020. Available from: https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/learn-about-cystic-fibrosis
  2. ‌‌Cystic Fibrosis: Causes, Symptoms, Diagnosis & Treatments. Cleveland Clinic. 2021. Available from: https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis
  3. National Heart, Lung and Blood Institute. Cystic Fibrosis - Diagnosis | NHLBI, NIH [Internet]. www.nhlbi.nih.gov. 2022. Available from: https://www.nhlbi.nih.gov/health/cystic-fibrosis/diagnosis
  4. ‌Mayo Clinic. Cystic Fibrosis - Diagnosis and Treatment - Mayo Clinic. Mayoclinic.org. Mayo Clinic; 2021. Available from: https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706
  5. Laselva O, Guerra L, Castellani S, Favia M, Di Gioia S, Conese M. Small-molecule drugs for cystic fibrosis: Where are we now? Pulm Pharmacol Ther 2022;72:102098. Available from: https://pubmed.ncbi.nlm.nih.gov/34793977/
  6. Airway Clearance [Internet]. www.hopkinsmedicine.org. Available from: https://www.hopkinsmedicine.org/all-childrens-hospital/services/pulmonology/pediatric-cystic-fibrosis/programs-and-services/airway-clearance
  7. Pilewski JM. Update on Lung Transplantation for Cystic Fibrosis. Clin Chest Med 2022;43(4):821–40. Available from: https://www.chestmed.theclinics.com/article/S0272-5231(22)00079-X/abstract
  8. Cystic Fibrosis Foundation. Nutritional Basics | Cystic Fibrosis Foundation [Internet]. www.cff.org. 2022. Available from: https://www.cff.org/managing-cf/nutritional-basics
  9. Mariotti Zani E, Grandinetti R, Cunico D, Torelli L, Fainardi V, Pisi G, et al. Nutritional Care in Children with Cystic Fibrosis. Nutrients 2023;15(3):479. Available from: https://pubmed.ncbi.nlm.nih.gov/36771186/
  10. Nutrition in Cystic Fibrosis. Johns Hopkins Cystic Fibrosis Center. Available from: https://hopkinscf.org/clinical-care/nutrition/
  11. Newborn Screening for CF | Cystic Fibrosis Foundation [Internet]. www.cff.org. Available from: https://www.cff.org/intro-cf/newborn-screening-cf#how-is-newborn-screening-done

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