Cystic Fibrosis

Cystic fibrosis is a life-altering genetic disorder that impacts various organs, particularly the lungs and digestive system. This inherited condition affects millions worldwide, causing thick, sticky mucus to accumulate in the body. Understanding cystic fibrosis is crucial for those affected and their families to control cystic fibrosis symptoms & improve their quality of life.

What is Cystic Fibrosis Condition?

Cystic fibrosis is an inherited disorder running in families. It affects various body organs, particularly the lungs, pancreas, and digestive system. This inherited condition occurs when a person receives a faulty gene from both parents, leading to the generation of thick, sticky mucus that clogs tubes, ducts, and airways.

Symptoms of Cystic Fibrosis

Cystic fibrosis has an impact on various organs, causing a range of symptoms that vary from person to person. These may include:

• Respiratory Symptoms: These include a persistent cough that produces thick mucus, wheezing, shortness of breath, recurring chest infections and damage to the airways, known as bronchiectasis.
• Exercise Intolerance: It is also common, as the mucus in the lungs makes breathing difficult during physical activity.
• Digestive Issues: The mucus can clog the pancreas, preventing enzymes from reaching the small intestine and interfering with proper digestion. This leads to malnutrition, difficulty gaining weight, poor growth, foul-smelling, greasy stools, diarrhoea, or constipation. In some cases, newborns may develop a bowel obstruction called meconium ileus, which may require surgery.

Other Cystic Fibrosis Disease Symptoms: 

• Stuffy nose
• Recurrent sinusitis 
• Nasal polyps 
• Yellowing of the skin and eyes (jaundice)
• Dehydration due to electrolyte imbalance

Causes and Risk Factors of Cystic Fibrosis

Cystic fibrosis is a common genetic disease occurring as a consequence of alterations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

This gene impacts the production and function of the CFTR protein. This protein regulates water and salt movement in and out of cells. When the CFTR protein is faulty or absent, it causes the secretion of thick, sticky mucus that clogs various organs.

To develop cystic fibrosis, a child must inherit two copies of this mutated CFTR gene, one from each parent. If an individual inherits only one copy, they become a carrier but do not typically show disease symptoms. Carrier individuals can pass the mutated gene to their children.

The risk of having a child with cystic fibrosis increases when both parents are carriers of the mutated gene. In such instances, there is a 25% chance that their child will develop cystic fibrosis, a 50% chance the child will be a disease carrier and a 25% chance the child will neither be a disease carrier nor have the disease.

Some ethnic groups show higher instances of carrying the cystic fibrosis gene. Individuals of Northern European descent, especially those of Ashkenazi Jewish heritage, are more likely to be carriers. However, cystic fibrosis can affect individuals from all racial and ethnic backgrounds.

Complications of Cystic Fibrosis

Cystic fibrosis has an impact on various organ systems, resulting in a range of complications that can worsen over time. 

• Respiratory Complications: The build-up of thick mucus in the lungs can lead to chronic infections, making breathing difficult and causing damage to the airways (bronchiectasis). 
• Digestive System Complications: The thick mucus can block the tubes that transport digestive enzymes from the pancreas to the intestines, causing inflammation of the pancreas. 
• Diabetes: People with cystic fibrosis have a higher risk of developing diabetes, as the pancreas may struggle to produce enough insulin.
• Reproductive System Complications: Almost all men with the condition are infertile due to blockages or absence of the vas deferens, the tube that connects the testes and prostate gland. Women may experience reduced fertility, although pregnancy is possible with proper medical care.
• Other Complications: They include osteoporosis, liver problems, and mental health issues like depression and anxiety. 

Diagnosis

Diagnosing cystic fibrosis involves several steps and tests to confirm this genetic disorder. These may include:

• Newborn Screening Process: A blood test can check for levels of immunoreactive trypsinogen (IRT), a chemical produced by the pancreas. High levels of IRT may indicate cystic fibrosis.
• Sweat Test: The most common and reliable confirmatory test is the sweat test, which measures the amount of salt in a person's sweat. Individuals with this condition have higher salt levels in their sweat than those without the condition. 
• Genetic Test: It helps to identify the CFTR gene mutations responsible for cystic fibrosis. 

Treatment for Cystic Fibrosis

While there is no cure, advancements in medical care have significantly enhanced the outlook for individuals with this condition.

• Medications: 
  • Doctors prescribe antibiotics to prevent and treat lung infections, which are common in people with this condition. 
  • Mucus-thinning drugs, such as hypertonic saline, help loosen the thick secretions in the airways, making it easier to cough up the mucus and clear the lungs.
• CFTR Modulators: These medications target the underlying genetic defect responsible for the condition. 
• Airway Clearance Techniques: These may include chest physiotherapy, where specific movements and positions help dislodge mucus from the lungs. Mechanical devices, such as vibrating vests, can also assist in loosening secretions.

When to See a Doctor

It is crucial to seek medical attention if new or worsening symptoms appear. These may include: 

• An increase in mucus production
• Changes in mucus colour
• Lack of energy
• Weight loss
• Severe constipation
• Coughing up blood
• Chest pain and difficulty breathing
• Severe stomach pain and distention

Prevention

Cystic fibrosis cannot be prevented, as it is an inherited genetic disorder. However, there are steps that individuals can take to reduce the risk of having a child with cystic fibrosis. 

• Carrier Testing: It is also known as cascade screening and is available to identify individuals who carry the faulty cystic fibrosis gene. 
• Genetic Counselling: A genetic counsellor can explain the risks and options available, helping couples make informed decisions about family planning. 
• Antenatal Tests: Chorionic biopsy and amniocentesis can be performed during pregnancy to determine if the foetus has cystic fibrosis. 

Conclusion

Cystic fibrosis can significantly impact the lives of those affected, challenging both patients and doctors. The complexity of this genetic disorder requires a comprehensive approach to manage symptoms & improve quality of life. Advances in diagnosis, treatment, and care have led to better outcomes and longer life expectancy for individuals with cystic fibrosis. These improvements offer hope and support to patients and their families as they navigate the challenges of living with this condition.

While a cure for cystic fibrosis remains elusive, ongoing research and medical breakthroughs continue to enhance our understanding and management of the disease. The development of targeted therapies, such as CFTR modulators, has opened new avenues to treat the underlying cause of cystic fibrosis. As we look to the future, the focus remains on further improving cystic fibrosis treatments, supporting patients, and ultimately finding a cure for this complex genetic disorder.

FAQs

1. What is the leading cause of cystic fibrosis?

Cystic fibrosis is due to a faulty gene inherited from both parents. This defective gene changes how salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive, and reproductive systems. For a child to have cystic fibrosis, they must inherit one copy of the mutated CFTR gene from each parent.

2. Can cystic fibrosis be cured?

Currently, there is no cure available for cystic fibrosis. However, advancements in treatment have improved the quality of life & life expectancy in individuals with this condition. Various therapies and medications are available to manage symptoms, prevent complications & make the condition easier to live with.

3. Who is at risk for cystic fibrosis?

The child having both parents who carry the abnormal CF gene is at risk.

4. Is cystic fibrosis common in males or females?

Cystic fibrosis affects both males and females. However, some studies suggest that females with cystic fibrosis may experience more severe symptoms and complications compared to males. Women tend to have more lung infections and often develop symptoms earlier in life. Despite this, the condition itself is not more common in one gender than the other.

CARE Medical Team

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