Overview

Cystic Fibrosis is a genetic condition marked by the production of thick mucus or excess salt in different organs or parts of the body. It hinders the functioning of those tissues or organs, and causes complications over time. In this article, we will examine the effect of Cystic Fibrosis on the respiratory system specifically, and treatment plan for the same.

What is Cystic Fibrosis?

Mucus is a slimy, watery substance produced by the body. It protects epithelial cells in the linings of organs or tissues pertaining to the respiratory, digestive, urogenital, auditory and visual systems. It protects them from pathogens like virus, bacteria and fungi, and can be seen as the first line of defense by the body against disease.

For example, mucous in the lungs traps germs or dust and thickens into phlegm. When the person coughs or sneezes, the phlegm is expelled, and in the process, some of the microbial load too. In the digestive system, it protects against harmful pathogens that enter our body through food. The pathogens are trapped in the mucous and exit the body through feces. Being slimy, they do not obstruct the functioning of the tissues or organs, and instead slide through easily like a lubricant.

Cystic Fibrosis (CF) is an inherited disorder. In this, all those cells or tissues that produce mucus, sweat or digestive juices are affected by this condition. In this process, the mucous becomes thick and sticky, while sweat become salty. Instead of protecting the tissues, the mucus now ends up blocking tiny passages, ducts and tubes in the body, which hinders the normal functioning of that organ, gland or tissue.

CF manifests quite early in childhood, and adult-onset CF is quite rare. In the past, it used to be fatal with most children diagnosed with CF not making it to adulthood. However, advances in medicine have improved life-expectancy for CF patients with many of them making it to the 40s and 50s. It shows symptoms quite early in life, so timely treatment can be provided. In many parts of the world, new-born babies are mandatorily screened for CF.

Being an inherited condition due to genetic mutation of a particular gene, the child must get one copy of the mutated gene from both parents in order to develop CF. Else, if the child has received the mutated gene from either parent, then it may not develop CF. But it will be a carrier for this gene and pass on the risk to the children/grand-children. That is why, in some countries, women wishing to start a family or even pregnant women go in for CF screening.

Also Read: Complications arising out of respiratory disease

Causes

Cystic Fibrosis Transmembrane-conductance Regulator (CFTR) gene is a gene that regulates the normal functioning of a protein by the same name – CFTR protein. The CFTR protein is present in all those organs, glands or tissues that create mucus, such as the lungs, liver, pancreas, intestines, immune system, heart and sweat glands.

People with CF have an abnormal mutation of the CFTR gene, which causes the mucus to become stickier and thicker than in normal conditions. This hinders or hampers the working of those organs and tissues. More specifically in the lungs, it blocks the airways, causing difficulty in breathing.

The sticky mucus is not expelled easily. It stays in the lungs and attracts pathogens, which increases the risk for severe lung infections. The infections and the hampered breathing reduce oxygen exchange in the body, leading to a cycle of complications that results in death. This is what caused fatality in CF patients in the past.

Symptoms

CF shows different symptoms in different parts of the body. More specifically to the respiratory system, it manifests as:

• A persistent cough where the person produces thick phlegm
• Wheezing
• Exercise intolerance, or shortness of breath (dyspnea) while exercising
• Repeated lung infections such as bronchitis, pneumonia, and bronchiolitis
• Stuffy nose, stuffy sinuses and inflamed nasal passages
• Recurrent sinusitis caused by the previous symptom

Complications (in the Respiratory system)

Severe CF and CF that is either misdiagnosed or diagnosed late thereby delaying treatment, can cause complications such as:

• Bronchiectasis: In this condition, airways in the bronchial tubes get damaged. They widen abnormally and develop scarring. This makes the movement of air in and out of the lungs difficult. In the process, it becomes harder to expel mucus from the bronchi.
• Chronic infections: As mentioned earlier, the thick mucus in the lungs and sinuses traps bacteria and fungi, where they multiply. In the process, the person develops infections like sinusitis, bronchitis or pneumonia. Certain strains of bacteria that breed there can even be resistant to antibiotics making treatment difficult.
• Nasal polyps: In people with CF, the nasal lining inside the nose gets swollen and inflamed. Further, small, soft and fleshy growths called polyps develop there.
• Hemoptysis: When the bronchiectasis described earlier happens next to blood vessels in the lungs, the damage to airways combined with infection can cause the person to cough blood. Although these are few drops of blood only, the condition can become life-threatening.
• Pneumothorax: There is a small cavity or space between the lungs and chest-wall. Pneumothorax is a condition in which air starts leaking from the lungs into this space, after which a part of, or an entire lung collapses. The person experiences sharp shooting pain in the chest, breathlessness, and a bubbling sensation in the chest.
• Lung failure: Chronic CF can damage lung tissue progressively till such stage that it no longer works. This is called respiratory or lung failure and can be fatal.
• Acute exacerbations: Before lung failure happens, one of the stages is where the symptoms become acutely exacerbated (aggravated). This includes more cough that produces thick phlegm and shortness of breath. Antibiotics are given for relief. The person experiences fatigue, reduced energy and weight loss.

Also Read: What is a Bronchoalveolar Lavage and why is it done?

Treatment Plan

Sweat test, blood test and genetic tests are conducted on newborns or older children to diagnose CF. There is no permanent cure for CF. The aim of treatment is to loosen the mucus so that the person can expel it easily, preventing or controlling lung infections, and improving quality-of-life. Treatment-plan includes:

Medications that target lung health

• Antibiotics: These prevent or treat lung infections
• NSAIDs: These are anti-inflammatory medications which reduce the swelling in airways of the lungs
• Mucus-thinners: Drugs such as hypertonic saline help loosen or thin-down phlegm so that the person can cough it out easily. This improves lung function.
• Bronchodilators: Similar to the ones used by asthmatics. These medications are inhaled. They relax muscles around the bronchi and keep the airways open.

Medications that target genes

These modulate functioning of the CFTR gene, which in turn improves working of the CFTR protein.

• Trikafta: a combination medicine containing tezacaftor, ivacaftor and elexacaftor, given to patients 12 years and older. A potent and effective medicine.
• Symdeko: a combination medication containing ivacaftor and tezacaftor only, given to children in the age-group of 6 to 12 years, or even older.
• Orkambi: a combination medication containing ivacaftor and lumacaftor, given to children 2 years and above
• Kalydeco: contains Ivacaftor only and given to infants 6 months and older

Airway clearance

Also called Chest Physical Therapy or CPT, these are a set of techniques to physically loosen and expel the phlegm. That will reduce infection or inflammation in the airways and improve lung function.

• One technique involves clapping the front and back of the chest with cupped hands. The person can take the help of a friend or family member for the back.
• Specific breathing and coughing techniques: the person lies/sits/stands in a particular position, and then coughs, or breathes in a particular fashion to loosen up the mucus.
• Certain mechanical devices: These devices help loosen mucus in the lungs. They require blowing into a tube vigorously, or a machine that pulses air into the lungs (called vibrating vest).
• Vigorous exercise: This also helps clear the phlegm.

Pulmonary rehabilitation

This is a long-term program that involves education about CF, exercises such as the ones mentioned above, breathing techniques that loosen mucus, counseling around diet and nutrition, and other areas of counseling or support.

Surgical procedures

• Surgery for the nose and sinuses: These are done to remove nasal polyps and treat recurring or long-term sinusitis.
• Oxygen therapy: If the lung function has deteriorated, oxygen levels in the blood will fall, increasing the risk of high BP in the lungs (pulmonary hypertension). In such a case, oxygen is given externally.
• Non-invasive ventilation: This involves the use of a nose or mouth mask when the person is sleeping. This creates positive pressure in the airways and lungs during breathing. When combined with oxygen therapy, it improves air-exchange in the lungs, clears the airways and takes the pressure away from normal breathing.
• Lung transplant: When none of the above work, lung transplant of both lungs is the only option to save life.

Lifestyle changes

• Proper diet and nutrition
• Timely vaccinations
• Regular exercise
• Quitting smoking
• Frequent hand-washing
• Proper sanitation and hygiene

Reviewed by Dr Suresh S Venkita, Group Medical Director, Kauvery Hospitals

NOTE: Take medications only when prescribed by your doctors, self-medication must be avoided under any circumstances.

Kauvery Hospital is globally known for its multidisciplinary services at all its Centers of Excellence, and for its comprehensive, Avant-Grade technology, especially in diagnostics and remedial care in heart diseases, transplantation, vascular and neurosciences medicine. Located in the heart of Trichy (Tennur, Royal Road and Alexandria Road (Cantonment), Chennai, Hosur, Salem and Bengaluru, the hospital also renders adult and pediatric trauma care.

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