Cystic Fibrosis

Overview

Cystic fibrosis is a genetic disorder that can affect multiple organs in the human body. If not managed at the right time, it can result in severe complications. So, once a person starts noticing the symptoms of cystic fibrosis, it becomes imperative to visit the health care provider immediately. They will suggest the necessary diagnostic tests and subsequent management options for this condition. However, since it is a genetic disease, there are no ways of preventing the onset of this condition.

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disease that leads to the development of thick layers of mucus on various organs in your body. This results in the abnormal functioning of different organs of the body. The condition is named so because of the formation of cysts and scarring in your pancreas.

CF usually affects the digestive system, reproductive system, respiratory system, and other body parts. Here a mutation in the gene leads to a lower formation of proteins, thus preventing the movement of water outside the cell, keeping the mucus layer thick. The development of this condition can reduce the life expectancy of the patient.

Types of Cystic Fibrosis

Cystic fibrosis can be classified into two types. These include:

• Atypical cystic fibrosis: This is a mild form of CF, which affects only one organ. It can occur in both children and adults and the symptoms tend to come and go.
• Classic cystic fibrosis: It affects multiple organs in an individual body and usually develops in the first few years of their life.

Symptoms of Cystic Fibrosis

The development of cystic fibrosis is accompanied by respiratory symptoms like repeated lung infections, trouble breathing, a nagging cough, frequent wheezing, stuffy nose, and recurrent sinus infections. Furthermore, the digestive symptoms include foul-smelling stools, pancreatitis, jaundice, intestinal blockage, slow growth, chronic or severe constipation, and inability to thrive.

Certain other signs and symptoms of the condition include the development of very salty-testing skin, enlargement of toes and fingertips, fever, delayed puberty, muscle and joint pain, and male infertility. Although, atypical cystic fibrosis has similar symptoms, some other signs that can appear include chronic sinusitis, heatstroke, dehydration, nasal polyps, pancreatitis, and unintended weight loss.

Causes of Cystic Fibrosis

CF is primarily caused due to a mutation in the CFTR gene. The CFTR gene forms a protein that acts as an ion channel on the cell surface, allowing chloride ions to pass through them. These channels lead to the outward movement of chloride from the cell, taking water with it, thus, thinning out the mucus and making it more slippery.

However, in people suffering from cystic fibrosis, the CFTR gene is mutated, keeping the mucus layer thick. There are different categories of this mutation (from classes I to VI). Based on this grading, some produce proteins that do not work properly, some form very little quantity of proteins, and some do not translate into proteins at all.

Risk Factors of Cystic Fibrosis

Babies with one or both parents being carriers or sufferers of cystic fibrosis are at risk of developing this condition. Even, the risk increases if they have a sibling, half-sibling, or cousin suffering from CF. Also, the disease mostly impacts people of Northern European heritage and is less common in African Americans, Hispanics, and Asian Americans.

Diagnosis of Cystic Fibrosis

To accurately diagnose the development of CF, healthcare providers recommend the following cystic fibrosis diagnosis and tests:

Test Type	Checks
Sweat test	Determine the chloride level in sweat. It is generally higher in case you are suffering from CF, but it can even be normal if you have developed atypical CF.
Imaging tests	Images of sinuses and chest X-rays, combined with other tests help in the detection of cystic fibrosis.
Genetic tests	Checks for genetic mutations that are an underlying cause of CF.
Pulmonary function test	Checks if your lungs are functioning properly or not.
Pancreatic biopsy	It tells if there are damages or cysts in your pancreas.
Sputum culture	The sputum sample is tested for bacteria like Pseudomonas which is found in people suffering from cystic fibrosis.
Nasal potential difference (NPD)	Measures the amount of charge present in the lining of the nose that is caused by the movement of ions. It is less if the person is suffering from CF as this condition affects ion channels.
Intestinal current measurement (ICM)	A sample from rectal tissue is tested to check for the amount of chloride that it secretes.
New-born screening	Helps in the identification of health conditions like cystic fibrosis in new-born babies.

Treatment for Cystic Fibrosis

There is no treatment to completely cure cystic fibrosis. However, with the right approach, you can easily manage the symptoms of this condition. Some of the ways of cystic fibrosis management and treatment include:

Airway clearance technique for easy breathing: There are various ways in which you can keep your airways clear when suffering from CF. These include:

Techniques	Functions
Breathing and coughing techniques	These include the Active cycle of breathing technique (ACBT) and Autogenic drainage (AD), helping in opening airways and loosening muscles.
Airway clearance vests	An inflatable vest that is attached to a machine to loosen mucus as it vibrates.
Positive expiratory pressure (PEP)	They fit in the mouth so you have to work harder to breathe, to hold the airways, and to force out mucus.
Postural drainage and percussion	Involves movement into certain positions so the lungs can drain. Used in combination with other techniques.

Medications for Cystic Fibrosis

Listed below are some medications to treat infections, reduce inflammation, and manage symptoms:

Medications	Function
Antibiotics	Prevent or treat bacterial infections
Inhaled hypertonic saline	The salt in the solution attracts water, leading to the thinning of mucus and making it easier to clear.
Inhaled bronchodilators	Opens and relaxes the airways to make breathing easier.
Anti-inflammatory drugs	Drugs like nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, reduce swelling.
Stool softeners	Helps with constipation and makes it easier to poop.
Pancreatic enzymes	Aids in easy digestion of food and extraction of nutrients from it.

Use of CFTR modulators

They help in the rectification of issues with proteins caused due to the mutated CFTR genes. These medicines help in dealing with the accumulation of functioning proteins on the cell surface. CFTR modulators cannot cure cystic fibrosis but they have made significant improvements in symptoms and life expectancy.

Surgeries for cystic fibrosis

Doctors prescribe surgeries only when the patients suffer from complications of CF. Some frequently prescribed surgeries include bowel surgery to remove blockages, feeding tube placement, liver transplant, surgery on your nose or sinuses, and liver transplant.

Preventive Measures for Cystic Fibrosis

Since it is a genetic disorder, there are no ways of preventing the development of cystic fibrosis. However, if a person is a carrier of the CFTR gene variant, they can go for prenatal genetic testing to determine the possibility of cystic fibrosis development in their children.

Myths and Facts Related to Cystic Fibrosis

Following are some myths related to cystic fibrosis and some supporting facts bursting them:

Myth 1: Cystic fibrosis is just a bad cough
Fact: Apart from cough, CF can cause severe complications such as diabetes, respiratory failure, reduced infertility, mental health issues, and so on.

Myth 2: CF is contagious
Fact: Cystic fibrosis is a genetic disease that can be transmitted from parents to offspring but does not get transmitted from a sick person to a healthy person.

Myth 3: All CF carriers pass it on to their children
Fact: If both parents are carriers, there is only a 25% chance that the child will have CF. Furthermore, there is a 50% chance that they will only be a carrier and a 25% chance that they will not be a cystic fibrosis carrier.

Myth 4: Only Caucasian people suffer from CF
Fact: Although cystic fibrosis is more prevalent in Caucasian people, individuals from all races have the possibility of developing this condition.