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Cystic Fibrosis

PNS SHIFA

Online Consultation

Syed Intisar Hussain

Overview

Cystic fibrosis is a combination of two words - cyst and fibrosis; cysts are fluid-filled spaces and fibrosis is scar tissue, both of which are present in the lung in this condition<a href="#accordion">[1]</a>. It is an inherited disorder that damages the lungs, pancreas, liver, and other organs of your body<a href="#accordion">[2]</a>.&nbsp;

In cystic fibrosis, mucus production is defective due to a mutation in the gene on chromosome 7 which encodes for a protein responsible for the movement of chloride ions across the cell membrane. Thus, resulting in impaired mucus production. Normally mucus should be slippery and thin for proper functioning as a lubricant, but in cystic fibrosis, the mucus is thick and viscous- almost glue-like. This clogs the airways making it difficult to breathe, and predisposes one to infection by trapping bacteria in clogged airways<a href="#accordion">[1][2][3]</a>.

Moreover, the disease is not just limited to the lungs, as it affects the pancreas, liver, and other organs of the body by blocking multiple ducts and tubules that are the passageways for the body&rsquo;s fluids<a href="#accordion">[2]</a>.&nbsp;

Symptoms of cystic fibrosis can vary from person to person depending upon the organ affected and the severity of the disease. For some people, the disease presents in early childhood and then the condition gradually worsens over time, affecting the lung and digestive system. However, some people may present with the disease in adulthood and it is generally a mild form of the disease.&nbsp;

Due to screening techniques and better treatment options in today&#39;s era, the outlook of disease has improved quite significantly and people with cystic fibrosis can live well into their 40s and 50s<a href="#accordion">[2]</a>. Individuals with cystic fibrosis now live a better quality of life as compared to those in the past decades<a href="#accordion">[4]</a>.&nbsp;

<div>&nbsp;</div>

In the United States 30,000 people are living with cystic fibrosis and each year roughly 1,000 new cases are diagnosed<a href="#accordion">[1]</a>. Globally, 70,000 people are diagnosed with cystic fibrosis and the incidence varies across different regions<a href="#accordion">[5]</a>.&nbsp;

The rate of cystic fibrosis in Caucasians is 1 in 2,500 to 3,500 newborns, while the rate of African American and Asian newborns having cystic fibrosis is 1 in 17,000 and 1 in 31,000 respectively<a href="#accordion">[6]</a>.

In Pakistan, the data on the prevalence of the disease is limited, but there was a study conducted on 15 children diagnosed with cystic fibrosis. The children (aged between 3 months to 9 years) were screened for the mutation AF508 which is primarily responsible for the disease in Caucasians. The results showed that 60% of the selected children were positive for AF508 mutation, hinting that other mutations are also responsible for the disease<a href="#accordion">[7]</a>.

<div>&nbsp;</div>

There are two types of cystic fibrosis based on the age of presentation and the organs involved<a href="#accordion">[6]</a>.&nbsp;

&nbsp;

<ul>
	<li>Typical Cystic Fibrosis - It appears in the first few years of a child&#39;s life affecting multiple organs like the lungs, pancreas, liver, intestines, and sex organs.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Atypical Cystic Fibrosis - It appears later in life and affects only one organ.&nbsp;</li>
</ul>

<div>&nbsp;</div>

Signs And Symptoms

Cystic fibrosis presents a variety of signs and symptoms affecting multiple organs of the body. The presentation greatly varies from one individual to the other based on the severity of the disease and the organ system(s) involved. Parents of children with cystic fibrosis often notice saltiness when kissing their kids<a href="#accordion">[3]</a>. Cystic fibrosis patients usually present with respiratory and digestive complaints.&nbsp;

&nbsp;

<h5>Respiratory System&nbsp;</h5>

The abnormally thick mucus blocks the tubes that are responsible for conducting air through the lungs. This airway blockage results in multiple signs and symptoms that are as follows<a href="#accordion">[2]</a>:&nbsp;

<ul>
	<li>Wheezing</li>
	<li>Continuous cough with the production of thick mucus</li>
	<li>Intolerance to exercise&nbsp;</li>
	<li>Shortness of breath&nbsp;</li>
	<li>Stuffy nose</li>
	<li>Inflammation of the nasal passage</li>
	<li>Recurrent sinusitis (inflammation of the sinuses)</li>
	<li>Increased risk of having lung infections such as pneumonia and bronchitis (inflammation of tubules in the airway)<a href="#accordion">[8]</a></li>
</ul>

&nbsp;

<h5>Digestive System</h5>

The viscous mucus blocks the ducts of the digestive tract. E.g. the pancreatic ducts that are responsible for transporting digestive enzymes to the small intestines get blocked resulting in problems with digestion. Similarly, ducts in the liver also get blocked resulting in inflammation.&nbsp;

&nbsp;

Following are the signs and symptoms of cystic fibrosis affecting the digestive system<a href="#accordion">[2][4]</a>:

<ul>
	<li>Jaundice (yellowing of the skin and sclera)</li>
	<li>Diarrheas&nbsp;</li>
	<li>Abdominal distension&nbsp;</li>
	<li>Loss of appetite&nbsp;</li>
	<li>Delayed growth in children and insufficient weight gain due to the inability to absorb nutrients&nbsp;</li>
	<li>Foul smelling greasy stool&nbsp;</li>
	<li>Meconium ileus- bowel obstruction in newborns which is a medical emergency that needs surgery&nbsp;</li>
	<li>Severe constipation that requires straining to pass stool resulting in protrusion of some part of the rectum from the anus (rectal prolapse)</li>
</ul>

&nbsp;

Other symptoms of cystic fibrosis include infertility in both males and females, clubbing, and delayed puberty<a href="#accordion">[8]</a>.

<div>&nbsp;</div>

Causes

Cystic fibrosis is a genetic disorder caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which is responsible for the movement of salt and water across the body&#39;s cell membrane.

This alteration in the gene results in the production of abnormally thick mucus, instead of the usual slippery and thin mucus. The thick viscous mucus clogs the ducts, respiratory airways, and digestive tract. The mutation increases the amount of chloride in the sweat making it salty. This feature is used in screening and diagnosis of the disease.&nbsp;

Since cystic fibrosis is an inherited condition, the defective gene is passed on from parents to the child at birth. However, cystic fibrosis is an autosomal recessive disorder which means that you need the defective gene from both parents to develop the disease and if you have received the mutated gene from one parent only, then you will become the carrier of the disease and will transfer it to your children, but will not develop the disease<a href="#accordion">[3]</a>.&nbsp;

<div>&nbsp;</div>

Many countries such as the U.S and UK offer neonatal cystic fibrosis screening tests to diagnose the disease in its earliest stage and to commence treatment ensuring better control over the disease.

In a neonatal screening test, a sample of blood is taken from the foot of the baby or through a vein in the arm. The sample of blood is then dried on filter paper and sent to the laboratory for analysis. There, it is analyzed for increased levels of immunoreactive trypsinogen (IRT). This protein is produced by the pancreas of people with cystic fibrosis.&nbsp;

If the test results are negative, it is unlikely for the baby to have cystic fibrosis. However, if the blood sample turns out to be positive for IRT, further tests are needed to confirm the presence of cystic fibrosis. A sweat chloride test and genetic testing will confirm the presence or absence of the disease<a href="#accordion">[9]</a>.&nbsp;

<div>&nbsp;</div>

Diagnosis

Upon finding signs and symptoms that are seen in cystic fibrosis, doctors suspect the disease and order lab investigations and imaging tests to diagnose the condition and to know the extent of the disease.

&nbsp;

Following investigations are required for the diagnosis of cystic fibrosis<a href="#accordion">[3]</a>:

&nbsp;

<ul>
	<li>Immune Trypsinogen Test (IRT)</li>
</ul>

As mentioned earlier, this protein is produced by the pancreas of patients with cystic fibrosis and high levels of this protein indicate that the disease might be present and further tests are needed to confirm the diagnosis.&nbsp;

&nbsp;

<ul>
	<li>Sweat Chloride Test</li>
</ul>

This is the most commonly used test to diagnose cystic fibrosis. This test uses the chemical pilocarpine that triggers the release of sweat which is then collected on a paper or pad and sent to the laboratory for analysis of the salt content in the sweat. If the salt level is above the threshold value then individuals are diagnosed with cystic fibrosis.

&nbsp;

<ul>
	<li>Sputum Test&nbsp;</li>
</ul>

Since cystic fibrosis predisposes individuals to recurrent respiratory infections, a sputum test is needed to evaluate the presence of any bacteria to help determine which antibiotic will be most suitable to treat the condition.&nbsp;

&nbsp;

<ul>
	<li>Chest X-ray</li>
</ul>

A chest X-ray helps to view the lungs and to look for any swellings present in the lung due to blockage of the airway.

&nbsp;

<ul>
	<li>CT Scan</li>
</ul>

CT scan is a more accurate and sensitive imaging technique as compared to an X-ray. A CT scan gives precise details about any abnormalities in the lungs, pancreas, or any other organ affected by the disease and helps doctors to evaluate the extent and severity of cystic fibrosis.

&nbsp;

<ul>
	<li>Pulmonary Function Tests (PFTs)</li>
</ul>

As the name suggests, this test helps to check the functioning of the lung by measuring the volume of air inhaled and exhaled. In cystic fibrosis, since the airways are blocked it is difficult for the air to move in and out of the lungs resulting in abnormalities in the pulmonary function tests.

<div>&nbsp;</div>

Treatment

Cystic fibrosis has no cure but there are multiple treatment options available to mitigate the signs and symptoms and control the progression of the disease.&nbsp;

In cystic fibrosis patients, close monitoring is required along with aggressive intervention in the initial stage of the disease so that these individuals can live longer and have a better quality of life. Managing cystic fibrosis requires a multidisciplinary approach as the disease affects different organ systems of the body.&nbsp;

&nbsp;

The goal of the treatment of cystic fibrosis is to<a href="#accordion">[10]</a>:

<ul>
	<li>Prevent and control recurrent lung infections&nbsp;</li>
	<li>Remove and loosen the mucus that has clogged the airways&nbsp;</li>
	<li>Treat and prevent intestinal obstruction&nbsp;</li>
	<li>Provide patients with nutrition to compensate for the malabsorption associated with the disease&nbsp;</li>
</ul>

&nbsp;

<h5>Medications</h5>

These include<a href="#accordion">[3][6][10]</a>:

&nbsp;

<ul>
	<li>Antibiotics -&nbsp;To prevent and treat lung infections.</li>
</ul>

&nbsp;

<ul>
	<li>Nonsteroidal Anti-Inflammatory Drugs (NSAID) - To reduce the swelling in the lungs of cystic fibrosis patients.</li>
</ul>

&nbsp;

<ul>
	<li>Mucus Thinning Medications - It eases cough and improves lung function.</li>
</ul>

&nbsp;

<ul>
	<li>Bronchodilators - These medications keep the airway patent and relax the bronchial muscles surrounding the airway.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators - Individuals with gene mutations can benefit from these innovative medications which work by modifying the defective CFTR protein; these medications have remarkably improved lung functioning and reduced the salt levels in sweat, along with improving the weight of these individuals.</li>
</ul>

&nbsp;

<ul>
	<li>Oral Pancreatic Enzymes -&nbsp;To overcome the deficiency of these enzymes due to blockage of the pancreatic duct.</li>
</ul>

&nbsp;

<ul>
	<li>Stool Softener -&nbsp;To prevent rectal prolapse due to constipation.</li>
</ul>

&nbsp;

Airway Clearance Techniques

Also known as chest physical therapy (CPT), these airway clearance techniques help to clear the mucus obstructing the airways. This helps to reduce the risk of infection and inflammation of the respiratory system.&nbsp;

These techniques need to be repeated multiple times in a day. It involves cupping and clapping the front and back of the chest along with certain breathing techniques that help to loosen the mucus plugged into the airways.

A vibrating vest is also available which is a mechanical device that oscillates your airways helping to release the mucus through coughing<a href="#accordion">[10]</a>.&nbsp;

&nbsp;

Feeding Tube

In some cases, children with cystic fibrosis might need a feeding tube, and with the help of it, they can get nutrition directly into the stomach through the nose.

&nbsp;

Surgery&nbsp;

To manage the complications that may develop due to cystic fibrosis, surgery is performed<a href="#accordion">[3]</a>

&nbsp;

<ul>
	<li>Bowel Surgery - Children with meconium ileus, in which the small intestine is obstructed, need emergency surgery of the bowel to relieve the obstruction.</li>
</ul>

&nbsp;

<ul>
	<li>Lung Transplant - When lungs are irreversibly damaged then transplantation is the last resort of treatment. It can improve one&rsquo;s quality of life.&nbsp;</li>
</ul>

<div>&nbsp;</div>

The lungs are not the only organ affected by cystic fibrosis as the disease causes widespread damage to multiple organs. The complications of cystic fibrosis are as follows<a href="#accordion">[1]</a>:

&nbsp;

<ul>
	<li>Pancreas - The viscous mucus blocks the ducts in the pancreas that are responsible for carrying the digestive juices containing enzymes to the small intestine for digestion. Due to the clogged ducts, the process of digestion becomes impaired resulting in malabsorption.</li>
</ul>

&nbsp;

<ul>
	<li>Liver -&nbsp;The ducts that carry the bile juice from the liver get fibrosed due to the build-up of mucus in the duct. This can eventually obstruct the passage of bile and result in cirrhosis or scarring of the liver.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Small Intestine -&nbsp;The lining of the small intestine can wear off due to the accumulation of highly acidic food from the stomach. Additionally, meconium ileus can develop in newborns due to obstruction of small intestines; it is a medical emergency.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Large Intestine -&nbsp;The mucus instead of acting like a lubricant, causes blockages due to its thick and viscous nature and makes it difficult for the feces to pass through the gut. It can also cause a condition called intussusception. This is characterized by the gut folding like a telescope into another segment; it is a life-threatening condition.</li>
</ul>

&nbsp;

<ul>
	<li>Urinary Bladder -&nbsp;In cystic fibrosis, due to chronic coughing, most women develop weak bladder muscles. Roughly 65% of women with cystic fibrosis have stress incontinence. In this condition when individuals cough, laugh, sneeze, or lift something it causes their urine to leak.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Kidneys -&nbsp;People with cystic fibrosis can have stones in their kidneys which cause nausea, vomiting, and pain. When kidney stones are not treated, it results in a kidney infection.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Reproductive Organs - Both men and women with cystic fibrosis can develop infertility. In men, it is because of problems with a tube called the vas deferens which is required for the transport of sperm. And in females, infertility is because the mucus plug in the cervix becomes very thick and prevents&nbsp;the entry of sperm into the female reproductive tract.&nbsp;</li>
</ul>

&nbsp;

<ul>
	<li>Other Complications - Cystic fibrosis results in multiple other complications such as <a href="https://www.merisehat.pk/disease/osteoporosis-80" target="_blank">osteoporosis </a>or osteopenia which results in bone thinning. It also causes rapid heartbeat, low blood pressure, and an overall feeling of weakness.</li>
</ul>

<div>&nbsp;</div>

Since cystic fibrosis is an inherited disorder, there is an increased risk in individuals whose parents are carriers of the defective gene. Additionally, this disease commonly affects individuals of Northern European descent and is less commonly seen in individuals who are Hispanics, African Americans, or Asians<a href="#accordion">[8]</a>.

&nbsp;

Unfortunately, cystic fibrosis can not be prevented because it is a genetic condition inherited from parents to offspring. However, through genetic counseling, couples who wish to become parents and have cystic fibrosis in the family can evaluate if they are carriers of the cystic fibrosis gene. This helps to determine if their child would be at risk of having the disease<a href="#accordion">[3][6][8]</a>.

&nbsp;

Cystic fibrosis is a disease that has no cure and it is caused by multiple mutations resulting in a defective protein and impaired mucus production. New treatments for cystic fibrosis are in the pipeline that can change the course of the disease, especially for the 10% of the people who do not respond to any medications. A study conducted by the National Heart, Lung, and Blood Institute (NHLBI) has discovered that a widely known antifungal, Amphotericin, has shown promising results in treating cystic fibrosis in studies using human cells and animal models.&nbsp;

The study has shown that the drug does not alter the gene or the defective protein, rather it acts as a surrogate molecule in place of the CFTR to perform the function of the channel. Acting like a prosthetic device, it has been shown to reduce viscosity and improve lung function<a href="#accordion">[11]</a>.&nbsp;

<div>&nbsp;</div>

Key Points

<ul>
	<li>Cystic fibrosis is a genetic disorder commonly seen in Caucasians.&nbsp;</li>
	<li>This condition is due to a mutation in the CFTR gene and it results in abnormal mucus production.&nbsp;</li>
	<li>The thick mucus clogs the airway, ducts and tubules causing damage to multiple organs, primarily the lungs and pancreas.&nbsp;</li>
	<li>It predisposes individuals to recurrent respiratory infections.&nbsp;</li>
	<li>After screening and early diagnosis, aggressive intervention is needed to control the disease.&nbsp;</li>
	<li>It requires regular monitoring and treatment involving medications, exercises, and surgery (if complications arise).</li>
</ul>

<div>&nbsp;</div>