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Cystic Fibrosis (CF)

By Apollo 24|7, Published on- 01 November 2022 & Updated on - 04 November 2022

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Symptoms: Persistent cough, wheezing, nasal inflammation, frequent or severe constipation, recurrent lung infections, impaired growth in children, inability to gain weight, dehydration, easily fatigued, male infertility, chronic sinusitis, intestinal blockage.

Causes: Genetic mutation of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene

Risk Factors: Family history of cystic fibrosis

Severity: Moderate to severe

Which doctor to consult: Pulmonologists in addition to gastroenterologists, physiotherapists and nutritionists, depending on the manifested symptoms.

Overview

Cystic fibrosis (CF) is a progressive genetic disorder that occurs due to a mutation of the CTFR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. This causes the cells to secrete excessive mucous that severely damages the pancreas, lungs, digestive system, and other organs.

CF affects each individual differently. For instance, the mucous can sometimes clog the airways, leading to the build-up of germs and bacteria. Subsequently, this can cause lung inflammation, infections or respiratory failure.
Pancreatic complications in people with CF are related to digestive enzymes. The condition inhibits the absorption of critical nutrients, leading to malnutrition or impaired growth in children.

Concurrently, excessive mucous production often blocks the bile ducts, resulting in various liver diseases or disorders. In addition, male patients can develop issues related to fertility.

Currently, there is no cure for CF. However, medical advancements have made managing the condition much easier and improved the survival rate in affected individuals. Some common medications include antibiotics to prevent infections. Regardless, daily care is still mandatory, with patients having to be especially mindful about avoiding germs.

When to Consult a Doctor?

On Manifestation of Symptoms: In most cases, symptoms for CF begin to appear at the age of two. However, some children do not demonstrate signs until they are in their early or late teens. Nonetheless, poor growth in children, frequent respiratory problems and persistent coughing alongside the presence of excessive mucous could be due to CF. As such, it is critical to consult a pulmonologist as soon as the symptoms appear.

Family History of CF: Due to the disorder being genetic, CF only manifests in children who have two mutated variants of the CTFR gene. Thus, children with a family history of the condition need to be consulted with an expert to verify the existence of the same. Conversely, anyone with just one gene variation may be a carrier and pass it on to their children.

Antenatal Screening: For couples trying to conceive, it is vital to opt for a screening in case both are carriers. In such cases, the parents themselves will not exhibit any symptoms or be generally affected by the condition, making it challenging to recognise. However, the child may develop the disorder and suffer from related complications.

Diagnosis

General Examination: Clinical diagnosis of CF is usually possible when the symptoms appear in at least one of the typical organs (lungs, liver, pancreas, digestive system, intestines). In other cases, a sweat chloride test can identify the existence of a CTFR gene mutation. Due to CF patients producing high levels of salt in their sweat, any abnormal results can help diagnose the disorder.

Advanced Diagnostic Tests:

  • Immunoreactive Trypsinogen (IRT) Test:  Standard screening for an infant involves an IRT test. This clinical assessment examines IRT protein levels in the blood. Any elevation or deviation in this context can indicate CF. However, doctors usually prescribe additional medical examinations to confirm the presence of the disorder.
  • Pulmonary Function Test (PFT): PFT assesses the functioning of the lungs to determine any related complications. Such clinical examinations accurately measure the quantity of air an individual can inhale or exhale. In addition, the test focuses on whether the lungs can adequately transport oxygen to other organs. Abnormalities in both areas can be an indicator of CF.
  • Computerized Tomography (CT) Scan: Pulmonologists and other medical experts use a CT scan to study detailed internal images of the body. Subsequently, these scans enable doctors to look for any signs of organ damage or excessive mucous secretion. The existence of the same can be used to provide a diagnosis for CF.

Treatment

Home Care: In most patients, CF can cause intestinal blockage or inhibit the release of digestive enzymes. As such, diagnosed individuals may need to increase their caloric intake and adopt a fibre-rich diet.
In addition, regular exercise, including brisk walks, biking or swimming, can mitigate the effects of mucous in the airways. Medical experts also recommend supplements such as multivitamins, pancreatic enzyme capsules and antacids.

Medication: Specific medications can help manage the related symptoms and complications of CF. For example, antibiotics can eliminate lung infections and prevent any subsequent instances of it. In severe cases, intravenous injections of the drug may be necessary.

Mucous thinners may also be used to lighten the fluid's consistency or help a patient cough it out, thereby clearing the lungs.

Concurrently, a Nonsteroidal Anti-Inflammatory Drug (NSAID) can help with airway inflammation. However, a high dose is required for such medications to be effective. In other cases, doctors may recommend a bronchodilator to relax the peripheral regions around airway tubes.

Medical experts resort to administering CTFR modulators in patients with more severe symptoms. These drugs reduce the impact of the mutated CTFR gene and are highly effective as they directly target the gene function instead of the clinical effects.

Surgical Treatment: While there is no surgical cure for CF, specific procedures can help alleviate the complications caused by the condition. These include sectional bowel surgery to remove a blocked region in the intestines or inserting feeding tubes to aid in nutrient absorption.

In the most severe case, a lung transplant may be the only option to extend the patient's life. Regardless, the procedure will not eliminate the mutated CTFR gene and requires the patients to manage their symptoms post-operation.

Alternative Management: Regular visits to a physiotherapist for chest therapy can aid in loosening the accumulated mucous in the lungs. And, such techniques must be performed at least 1 to 2 times a day.
Mechanical devices like a chest clapper or an inflatable vibrating vest can also be used instead of chest therapy.

Risks & Complications If Left Untreated

Chronic Bacterial Infections: The mucous in the affected organs often leads to bacterial build-up. This can further cause infections like sinusitis, pneumonia or bronchitis. In a few cases, the microorganisms may also resist conventional antibiotic medication.

Pneumothorax (collapsing of the lungs): CF may sometimes cause air to seep into the space between the chest wall and the lungs. This directly causes the organ to wholly or partially collapse. Individuals suffering from such a condition report experiencing immense chest pain, breathlessness or a bubbling sensation in the region.

Issues Surrounding Fertility: In male patients, CF almost always leads to infertility because the condition blocks the tubes connecting the prostate gland and the testes. In females, the disorder may make conceiving difficult for females but not entirely lead to infertility. However, pregnancy can worsen the effects of CF.

Diabetes: Due to CF inhibiting pancreatic functions, affected individuals may suffer from reduced insulin production. Subsequently, patients have an increased risk of developing diabetes.

Liver Disease: The connecting tube between the liver and the gallbladder often gets clogged or inflamed due to excessive mucous. Consequently, this results in several hepatobiliary problems, including jaundice, cirrhosis or fatty liver disease.

Intestinal Obstruction: CF typically results in several issues related to the intestines. Structural blockages, intussusception (partial displacement of the intestines) and Distal Intestinal Obstruction Syndrome (DIOS) are all common occurrences due to the condition.

Bronchiectasis (damaged airways): Most CF patients may develop bronchiectasis, which involves scarring and abnormal widening of the air tubes. This makes it difficult for the lungs to transport oxygen. In addition, bronchiectasis usually occurs close to the blood vessels, which can cause them to rupture. In such cases, patients will often experience haemoptysis (coughing blood).

Nutritional Deficiencies: The inhibition of digestive enzyme release can result in patients suffering from malnutrition. More severe instances may stop the body from absorbing fats, vitamins and proteins. Such complications can cause impaired development in children and pancreatic inflammation in adults.
Respiratory Failure. Since CF is a progressive disorder that damages the lung tissues, patients will gradually experience deteriorating lung functioning. Over time, this will make the lungs stop working entirely, leading to a respiratory failure.

Additional Information

Risk of Developing CF Due To Family History & Ethnicity:

Individuals with one mutated CTFR variant will only be a carrier of the disorder. However, they can pass on the gene to their child. Subsequently, if the affected person has additional children, there is a 1/4th chance that each child may have CF or be a carrier.

This can lead to the condition being dormant across generations. So, a clinical diagnosis of the disease may be surprising to those without a recent family history of the disorder.

Nonetheless, the Cystic Fibrosis Foundation has established that specific ethnicities are more likely to develop the condition. Caucasian and Hispanic people are the two primary at-risk groups in this regard, followed closely by African and Asian natives.

  • Types of CF:

  1. Atypical CF: It is a milder form of the condition. Individuals with atypical CF will only have symptoms related to a single organ. In addition, chloride elevations caused by the disorder may not be present in such cases. This makes preliminary diagnostics tests ineffective for examining the presence of CF in affected individuals. Moreover, the manifested symptoms vary in severity across repeated instances and may not require hospitalisation as the classic CF variant.
  2. Classic CF: This type is the dominantly observed one in most patients. Common complications in such cases include severe respiratory problems, intestinal blockage, bronchial scarring and liver-related diseases. Individuals with classic CF will typically manifest the symptoms at the age of 2 years. Rarely, patients may display symptoms for the condition in their late or early teens. Regardless, some signs, such as frequent nasal inflammation or congestion, may be present from the beginning.
     

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Frequently Asked Questions

Recent medical advancements have made the long-term outlook for CF patients significantly better. As such, most affected individuals can live well into their 40s and 50s and beyond with proper management and treatment. However, the disorder is still incurable and results in gradual lung function degradation.

CF patients have a higher risk of developing osteoporosis (bone thinning). This can lead to additional issues, including recurrent joint and muscle pain alongside arthritis. Moreover, since the disorder causes chloride elevations, affected individuals may suffer from dehydration or electrolyte imbalance. Combined with strenuous physical activity, these issues can lead to heart-related problems and low blood pressure.

CF itself is not contagious. People with CF can trap the bacteria in the mucus. So, when a CF patient coughs, sneezes, or even speaks, the trapped bacteria can spread in the surroundings and effect healthy people. So, it is always recommended for patients with CF to keep 6 feet distance from people to avoid the cross-infection.