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Cystic fibrosis (CF) is a hereditary or genetic disease that results in the buildup of thick mucus in the organs, which seriously harms the lungs, digestive system, and other body organs.
The cells that make mucus, sweating, and digestive fluids are affected by cystic fibrosis. Normally, these secreted fluids are slippery and thin. However, an abnormal gene in CF patients makes the secretions thick and sticky. The secretions clog up tubes, ducts, and passages rather of lubricating them, particularly in the pancreas and lungs.
Mucus obstructs the pancreatic ducts, which makes it difficult to digest food. It’s possible that CF prevents babies and young children from absorbing enough nutrients from food. CF is a chronic and progressive condition. Liver, lungs, intestines, and sex organs are also affected by CF.
Although cystic fibrosis is a progressive condition requiring daily care, the majority of CF patients can still attend school and hold down jobs. Their quality of life often surpasses that of CF patients from earlier decades, thanks to remarkable advancements in screening and therapy. Today, individuals with CF can anticipate living well into their mid to late 30s or even their late 40s, with some even reaching their 50s, all due to these medical breakthroughs.
Symptoms
The signs and symptoms of cystic fibrosis are influenced by the disease’s severity. These symptoms can vary in intensity and may even change within the same individual over time. Some individuals may only exhibit symptoms during adolescence or adulthood. Those who are diagnosed later in life often have milder forms of the disease and are more likely to experience atypical symptoms such as infertility, recurrent pneumonia, and pancreatic inflammation (pancreatitis).
The newborn screening allows for the diagnosis of cystic fibrosis within the first month of life, before any symptoms appear. However, those who were born prior to the availability of newborn screening may not receive a diagnosis until the signs and symptoms of CF manifest.
The digestive tract and respiratory system are most frequently affected by the CF signs and symptoms.
- Respiratory signs and symptoms: The tubes that carry air into and out of the lung get clogged with the thick, sticky mucus related to cystic fibrosis. Signs and symptoms of this include:
- Persistent cough with thick mucus (sputum).
- Recurrent wheezing.
- Intolerance to exercise.
- Recurrent sinusitis or lung infections.
- Inflamed nasal passages or a stuffy nose.
- Digestive signs and symptoms: The digestive enzymes that are sent from the pancreas to the small intestine can become obstructed by the thick mucus. The intestinal tract can’t fully absorb the nutrients in the food that has been eaten without these digestive enzymes. This results into the following:
- Loose, foul-smelling, greasy stools.
- Poor weight gain and slow growth.
- Meconium ileus, which is an intestinal obstruction, especially in newborns.
- Chronic or severe constipation, which may result in frequent straining while attempting to pass feces and finally lead to rectal prolapse (when portion of the rectum protrudes outside the anus).
If you or a family member are displaying symptoms associated with cystic fibrosis or if there’s a history of the condition in your family, it’s advisable to have a conversation with your healthcare provider about undergoing testing for the disease.
Patients with cystic fibrosis should aim to schedule healthcare provider appointments every three months. However, if a patient notices any new or worsening symptoms, such as increased mucus production, alterations in mucus color, fatigue, unexplained weight loss, or severe constipation, it is essential to promptly reach out and consult their healthcare provider.
Anyone who is coughing up blood, experiencing significant stomach discomfort and distention, having trouble breathing, or experiencing chest pain should get an immediate medical attention.
Causes
The cystic fibrosis transmembrane conductance regulator (CFTR) gene, which has a mutation, alters a protein that controls the flow of salt into and out of cells. The end result is increased sweat salt content as well as thick, clingy mucus in the reproductive, digestive, and respiratory systems.
Gene defects can manifest in various forms, and the severity of the condition is closely linked to the specific gene mutation involved. In the case of cystic fibrosis, for a child to inherit the condition, they must inherit one copy of the mutated gene from each parent. Children will not develop cystic fibrosis if they inherit only one copy of the gene, but they will be carriers, which means they could potentially pass the gene on to their own offspring in the future.
Risk factors
A significant risk factor for cystic fibrosis is a family’s medical history, as this condition is hereditary and often runs in families. Although cystic fibrosis can impact individuals from diverse ethnic backgrounds, it is most commonly observed in individuals of Northern European descent, particularly those of white ethnicity.
Diagnosis
Healthcare providers often assess the signs and symptoms, perform a physical examination, and conduct multiple tests to identify cystic fibrosis.
- Newborn screening and diagnosis: A blood immunoreactive trypsinogen (IRT), a substance released by the pancreas, is found higher than normal levels in screening procedure. Premature birth or a difficult delivery may cause a newborn’s IRT levels to be elevated. To confirm a cystic fibrosis diagnosis, more testing could be required for that reason.
- Imaging test: Chest X-rays are frequently used by healthcare providers in the diagnosis of cystic fibrosis (CF), but they may not be enough to be certain of the diagnosis on their own. Usually, additional testing are necessary.
Sinus X-rays are used, particularly when people exhibit particular CF symptoms. These X-rays are often just one part of a thorough diagnostic evaluation that also includes a number of other tests.
- Sweat test: Chloride levels in perspiration are measured by the sweat test, and they are higher in CF patients. On a small patch of skin, a substance that causes perspiration is administered. The sweat is then collected and tested to determine whether it contains more salt than usual. Testing performed at a facility certified by the Cystic Fibrosis Foundation helps to assure accurate results. (1,2)
- Genetic test: For particular cystic fibrosis gene defects, healthcare providers may also advise genetic testing. In addition to examining the IRT levels, genetic studies may be utilized to confirm the diagnosis.
Treatment
Cystic fibrosis currently lacks a cure, but available treatments can effectively alleviate symptoms, mitigate complications, and improve overall quality of life. To extend life expectancy by slowing the progression of CF, it is strongly recommended to undergo close monitoring and proactive management. It is advisable to seek treatment at a healthcare facility staffed by a multidisciplinary team of medical professionals and specialists experienced in cystic fibrosis, as they can comprehensively evaluate and oversee the condition.
The goals of the treatment include preventing and treating lung infections, promoting mucus drainage and thinning, addressing and avoiding intestinal blockages, and guaranteeing adequate nutrition.
- Medications: Medications that aim to treat gene mutations, such as a new therapy that combines three different medications to treat the most common genetic mutation that causes CF and is considered a therapy that represents a significant advancement in the field of precision medicine.
- Antibiotics: Treatment and prevention of lung infections
- Anti-inflammatory: Medications that reduce pulmonary airway swelling
- Mucus-thinning drugs: Mucus-thinning medications like hypertonic saline are used to facilitate the removal of mucus from the airways, leading to potential enhancements in lung function.
- Inhaled bronchodilators: The muscles around the bronchial tubes can be relaxed by bronchodilators, which can help keep the airways open.
- Oral pancreatic enzymes: This will assist the digestive tract to absorb the nutrients.
- Stool softeners: Constipation or bowel obstruction will be prevented.
- Acid-reducing medications: To improve the function of pancreatic enzymes
- Medications that target genes: Healthcare provider may advise cystic fibrosis transmembrane conductance regulator (CFTR) modulators for patients with specific gene mutations associated with the disease. These more recent medication aid in restoring the CFTR protein’s damaged function. They might improve weight, enhance lung function, and lessen the salt content in sweat.
These drugs have received FDA approval to treat CF patients who have one or more CFTR gene mutations:
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- Individuals aged 6 months and older may use Ivacaftor (Kalydeco).
- Individuals who are 2 years of age and older are permitted to use the Orkambi (lumacaftor and ivacaftor) combination medication.
- People 6 years of age and older may take the Symdeko (tezacaftor and ivacaftor) combination medication.
- Recently approved for use in patients 12 years of age and older, the combination medication Trikafta (elexacaftor, ivacaftor, and tezacaftor) is seen as a breakthrough by a number of healthcare providers.
Prior to administering these medications, healthcare providers may conduct eye examinations and assess liver function. Regular testing is crucial for monitoring potential side effects like impaired liver function and cataracts while using these medications. Patients should actively seek information about potential side effects and warning signs from both their healthcare provider and pharmacist.
It is important to adhere to a scheduled follow-up appointment regimen to allow the healthcare provider to closely monitor the patient during their medication course. If an individual experiences any side effects, it is advisable to promptly discuss them with the healthcare provider.
- Airway clearance techniques: Chest physical therapy (CPT) can assist clear mucus obstruction and lessen infection and inflammation in the airways. These methods help to release the lungs’ dense mucus, which facilitates coughing. To loosen and eliminate mucus, numerous kinds of CPT may be used, and a mix of methods may be advised.
- Clapping with cupped hands on the front and back of the chest is a typical techniques.
- A few breathing and coughing techniques can also assist in loosening up the mucus.
- Lung mucus can be loosened with mechanical assistance. A tube that can be blow into and a machine that pulses air into the lungs are examples of devices. Mucus can also be removed by engaging in vigorous exercise.
- Pulmonary rehabilitation: A long-term program that could enhance lung function and general wellbeing may be suggested by the healthcare provider.
Outpatient pulmonary rehabilitation frequently includes a variety of exercises designed to help the patient’s condition. This includes physical activities to improve overall fitness, breathing exercises to improve breathing and facilitate mucus clearance, nutritional counseling to support health, emotional support and counseling, as well as educational elements to help people better understand their particular medical condition.
- Surgical and other procedures: Certain cystic fibrosis-related conditions have the following treatment options:
- Nasal and sinus surgery: If nasal polyps are preventing the patient from breathing, the healthcare provider may advise surgery. To treat chronic or recurrent sinusitis, sinus surgery may be performed.
- Oxygen therapy: The healthcare provider might recommend the patient to breathe pure oxygen if their blood oxygen level starts to drop in order to avoid pulmonary hypertension, or high blood pressure in the lungs.
- Noninvasive ventilation: Noninvasive ventilation uses a nose or mouth mask to create positive pressure in the airway and lungs when breathing in, and is frequently used while sleeping. It frequently works when combined with oxygen therapy. Noninvasive ventilation can boost pulmonary air exchange and lessen breathing effort. Airway clearing may also benefit from the treatment.
- Feeding tube: Because cystic fibrosis affects digestion, the patient has poor nutrient absorption. The healthcare provider can recommend utilizing a feeding tube to administer additional nutrients. This tube may be surgically placed in the abdomen or it may be a temporary tube that is led from the nose to the stomach. The tube does not inhibit eating by mouth.
- Bowel surgery: In the event of an obstruction forming in your intestine, surgical intervention may be necessary for its removal. Surgery may also be necessary to treat intussusception, a condition in which a part of the intestine has telescoped inside a neighboring section.
- Lung transplant: Lung transplantation may be an option if the patient has severe breathing issues, life-threatening lung complications, or a growing level of antibiotic resistance for lung infections. In conditions that result in the permanent dilation of the large airways (bronchiectasis), such as cystic fibrosis, where bacteria colonize the airways, the need for both lung transplant arises due to the involvement of both lungs.
Transplanted lungs do not have a recurring of cystic fibrosis. After a lung transplant, however, it is still possible for further CF consequences, like sinus infections, diabetes, pancreatic problems, and osteoporosis.
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- Liver transplant: Liver transplantation may be a possibility for people with severe cystic fibrosis-related liver disease, such as cirrhosis. A liver transplant may be paired with a pancreatic or lung transplant in some patients.
