Cystic Fibrosis: Causes, Diagnosis and Treatment

Table of Content

• Causes of Cystic Fibrosis

• Symptoms of Cystic Fibrosis

• Diagnosis of Cystic Fibrosis

• Treatment of Cystic Fibrosis

• When to see a doctor?

• Take-Home Points

• FAQ on Cystic Fibrosis

Introduction

Cystic fibrosis (CF) is the most common life-threatening genetic disease in the white population. It is a hereditary disease of a particular type of glands that causes sticky, thick mucus to build up in organs, including your lungs and pancreas. 

Cystic fibrosis (CF) typically affects the lungs and digestive system but also has an impact on other body organs. It is a fatal disease that progresses over time and has the potential to greatly reduce a person's quality of life. 

CF is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. The cells that make sweat, digestive fluids, and mucus are impacted by cystic fibrosis. These produced fluids are often slippery and thin. However, a faulty gene in CF patients results in thick, sticky secretions. In the lungs and pancreas, in particular, the secretions clog up tubes, ducts, and passageways rather than lubricating them. 

Today in this article, we will tell you more about this genetic condition. So read ahead to know more about its causes, symptoms and management. 

Causes of Cystic Fibrosis

Cystic Fibrosis is a genetic disease that is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. The CFTR gene has an impact on the synthesis of a protein that regulates the flow of salt and water into and out of cells. This causes the lungs, pancreas, and other organs to accumulate thick, sticky mucus, which can cause serious respiratory and digestive issues.

It is an autosomal recessive disorder meaning that a child must inherit two copies of the defective CFTR gene, one from each parent, to develop the condition. You can have cystic fibrosis even if none of your parents have the disease. 

In fact, CF doesn't run in many families. The person with the gene mutation is known as the carrier if there is no history of cystic fibrosis in your family. Those with only one faulty copy of the gene are carriers and do not have CF.  A 25% possibility exists that a child born to two carriers will have cystic fibrosis.

Symptoms of Cystic Fibrosis

Depending on how severe the condition is, there are various Cystic Fibrosis symptoms and symptoms. The same person's symptoms might become deteriorating or improve over time. Some people might not begin to exhibit symptoms until their adolescence or maturity. People who wait until adulthood to receive a diagnosis typically have milder disease and are more likely to experience atypical symptoms, such as recurrent pneumonia, infertility, and pancreatitis.

Sweat from those who have cystic fibrosis contains more salt than is typical. When parents kiss their kids, they frequently taste the salt in the air. The digestive tract and respiratory system are most frequently affected by other CF signs and symptoms.

Symptoms of Typical Cystic Fibrosis

Respiratory symptoms

In cystic fibrosis, the tubes that carry air into and out of your lungs get obstructed by the thick, sticky mucus. The symptoms of this are:

• Recurrent or chronic lung infections 

• Cough (associated with gagging, vomiting and disturbed sleep)

• Thick sputum (mucus) production

• Whistle-like sound production on breathing (Wheezing)  

• Extreme exhaustion from exercise 

• Stuffy nose

• Recurrent sinusitis

Gastrointestinal symptoms 

Additionally, the thick mucus has the potential to obstruct the tubes that carry digestive enzymes from the pancreas to the small intestine. Your intestines can only absorb a portion of the nutrients from the food you eat without the help of these digestive enzymes. Usually, the outcome is:

• Feeling of bloating or abdominal tightening 

• Failure to pass meconium (in a newborn)

• Episodes of constipation 

• Crampy abdominal pain 

• Change in stooling pattern 

• Decreased appetite 

• Vomiting

• Foul-smelling, greasy stools

• Poor weight gain and growth

Symptoms of Atypical Cystic Fibrosis 

When atypical cystic fibrosis is identified, a person may already be an adult. Among the respiratory symptoms and indicators are:

• Chronic sinusitis

• Breathing issues like could cause asthma 

• Nasal tumours 

• Frequent pneumonia attacks

Other atypical CF symptoms and signs may include:

• Acute heat stroke or dehydration 

• Fertility issues

• Diarrhea

• Weight loss

Diagnosis of Cystic Fibrosis

The majority of the time, CF is identified in children. Doctors use a variety of tests and a thorough assessment to identify CF. These consist of:

• Newborn screening - The screening looks for a list of conditions, including CF. In this, your healthcare provider takes a few drops of blood from your child and places the drops on a special card called a Guthrie card.

• Sweat test - The sweat test measures the amount of chloride in the body’s sweat, which is higher in people who have CF.

• Genetic test - In this test, blood samples are tested for the genes that cause CF.

• Chest X-ray - X-rays of the chest are used to support or confirm CF, but a chest X-ray isn’t the only test needed to confirm a diagnosis. Other tests must be done.

• Sinus X-rays - Sinus X-rays can confirm CF in people who show certain symptoms. Other forms of testing are also needed for diagnosis.

• Lung function tests - The lung function test is done using an instrument called the spirometer. In this test, the efficiency of the lung is tested. In CF, the efficiency of the test decreases. 

• Sputum culture - In the sputum culture test, the sputum produced is grown on a specific medium and is checked for the presence of organisms in it. This helps in assessing the microorganisms that can be causing infection in the lungs. 

• Nasal potential difference (NPD) - In order to measure the electricity produced by the movement of ions in solution across the nasal tissue, a voltmeter and electrodes are put in two locations within and one location outside of the nose. Three distinct types of solutions are used in the test.

• Intestinal current measurement - For this test, a biopsy of rectal tissue is required. Chloride secretion from the tissue is induced, and the results are measured.

Treatment of Cystic Fibrosis

Your medical team will likely include a cystic fibrosis expert in addition to several other kinds of healthcare providers. Although there is no treatment for cystic fibrosis, your team will assist you in managing the condition. Keeping your airways open is the main goal of management. When necessary, your doctor will also write prescriptions for medication. 

Treatment typically involves a combination of medications, respiratory therapy, and nutritional support. Nutritional support may include pancreatic enzyme replacement therapy to help with digestion, as well as vitamin and mineral supplements. The patients are also advised to take a high-calorie and high-fat diet as these are not absorbed properly by your intestines.

1. Keeping the airways clean

If you have cystic fibrosis, you can maintain your airways open in a number of ways:

• You may learn different breathing and coughing techniques.

• You can employ treatment vests that use vibrations to loosen mucus or mouthpiece devices.

• Chest physiotherapy, also known as postural drainage and percussion to remove mucus, is a skill you may master. This technique involves moving into specific positions to allow your lungs to empty. To help loosen the mucus, another person may place their touch on your back or chest. You might cough while doing this.

2. Medication

These medications may be prescribed by your doctor; they won't treat your CF, but they will be helpful in some conditions. They consist of:

• Antibiotics to treat or prevent lung infections.

• Breathing is made easier by inhaling bronchodilators, which widen and relax your airways.

• Inhaled medication to make the mucus thin and make it easier to expel.

• Steroids and non-steroidal anti-inflammatories, which are anti-inflammatory medications.

• Medications for those with specific gene variations to treat the underlying causes of cystic fibrosis.

• Digestive enzymes from the pancreas.

• Stool softeners for constipation relief

• The first triple combination medicine for the treatment of patients with the most typical cystic fibrosis mutation, Trikafta (elexacaftor/ivacaftor/tezacaftor), has been approved by the U.S. Food and Drug Administration. Cystic fibrosis patients aged 12 and older may use trikafta. Trikafta is the new treatment option for cystic fibrosis.

3. Surgery 

Surgery can be required if you have cystic fibrosis or one of its side effects. These could consist of:

• Surgery of the sinuses or nose.

• Bowel surgery to clear obstructions.

• Organ transplantation, such as a liver or double lung transplant.

When to see a doctor?

Consult your doctor about getting tested for the disease if you or your child exhibit symptoms of cystic fibrosis or if someone in your family has the condition. Consult a medical professional who is familiar with CF.

Your doctor must be followed up with consistently and regularly, at least every three months if you have cystic fibrosis. If you notice any new or worsening symptoms, such as more mucus or a change in the colour of your mucus, fatigue, loss of weight, or severe constipation, speak to your doctor right away.

If you experience severe stomach discomfort and distension, chest pain, difficulty breathing, or are coughing up blood, get immediate medical attention.

Take-Home Points

Cystic fibrosis is a genetic condition that affects your respiratory system,  gastrointestinal system and the rest organs as well. Although CF is a serious ailment that requires daily care, there are various ways to treat it, and those therapies have greatly improved over time. Today's CF patients can anticipate living a significantly longer life than those in the past.