Cystic Fibrosis

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Cystic Fibrosis

Cystic fibrosis is a hereditary disease that causes severe damage to the digestive system, lungs, and the other organs of the body. It affects sweat, mucus, and digestive juices producing cells. Normally slippery and thin, these fluids turn sticky and thick in people suffering from cystic fibrosis because of a defective gene. These fluids clog the ducts, tubes, and the passageways mainly in lungs and the pancreas, instead of their lubricating action. The condition progresses with the passage of time and requires you to take care of your health.

Causes of Cystic Fibrosis

A defect (mutation) in a gene changes a protein which is responsible for regulating the movement of salt in and out of the cells causes cystic fibrosis. The gene is cystic fibrosis transmembrane conductance regulator (CFTR) gene. Because of this mutation, the mucus becomes thick and sticky in the digestive, respiratory, and reproductive systems with increased salts in sweat. The defects in the gene may vary. The type of gene mutation governs the severity of the condition. Children who inherit only one copy of the gene are carriers of the disease and pass on the genes to their children.

Symptoms of Cystic Fibrosis

The signs and symptoms of the disease vary according to the severity of the condition. While some people may not experience any symptoms of the disease until teenage or adulthood, some others may experience the symptoms from childhood itself. People diagnosed with the condition in adulthood have atypical symptoms like infertility, bouts of pancreatitis (inflamed pancreas), and recurring pneumonia. They have a higher than usual level of salt in their sweat. Most of the symptoms of the disease affect the digestive and the respiratory system.

Digestive symptoms
The thick mucus blocks the tubes carrying the digestive enzymes from the pancreas to the small intestine. Your intestine cannot completely absorb the nutrients from the food you eat in the absence of these digestive enzymes. This causes greasy, foul-smelling stools, intestinal blockage, poor weight gain, chronic or severe constipation, and poor growth.

Respiratory symptoms
The sticky, thick mucus due to cystic fibrosis chokes the tubes that carry air from and to your lungs. The signs and symptoms caused because of this are:

  • Exercise intolerance
  • Stuffy nose
  • Persistent cough producing thick mucus or sputum
  • Repeated lung infections
  • Recurrent sinusitis
  • Wheezing
  • Inflamed nasal passages

Diagnosis of Cystic Fibrosis

Your doctor will carry out a physical examination, conduct various tests, and review your symptoms for the diagnosis of cystic fibrosis.

  • Screening tests for newborns:
    The doctors in many places conduct screening tests to diagnose cystic fibrosis in newborns. Due to early diagnosis the treatment can be started instantly. In the blood sample, under the screening test, the doctors check for higher than normal levels of a chemical IRT (immunoreactive trypsinogen), released from pancreas. However, the levels of the chemical may be high in babies with premature birth or stressful delivery. This gives rise to the need for other tests to diagnose the presence of cystic fibrosis.
    The doctors may also conduct the sweat test when the infant turns two years old to evaluate cystic fibrosis. He or she will apply a sweat-producing chemical on a small area of the skin. Next, the doctor will collect the sweat to test it and check for the saltiness. The doctors might also ask for genetic tests that detect specific defects on the gene causing cystic fibrosis.
  • Screening tests for adults:
    The doctors will recommend screening tests for children and adults who didn’t undergo screening tests at birth. If you have recurring bouts of the inflamed pancreas, chronic sinus or lung infections, nasal polyps, and bronchiectasis; then your doctor will ask you to take genetic and sweat tests for the confirmation of cystic fibrosis.

Treatment options for Cystic Fibrosis

Although there is no perfect cure for this disease, but treatment helps to relieve the symptoms and reduce the complications. Early diagnosis with regular monitoring slows down the progression of the disease and improves the quality of life.

Medications

Your doctor will prescribe you the medications that target gene mutations and treat the one causing cystic fibrosis. He or she will also ask you to take antibiotics to prevent and/or treat lung infections. Apart from these, other medications may be:

  • Bronchodilators (inhaled medications) to keep the air passages open by relaxing the muscles surrounding the bronchial tubes.
  • Anti-inflammatory medications to reduce the swelling in the airways to your lungs.
  • Stool softeners that prevent bowel obstruction and constipation.
  • Mucus thinning drugs like hypertonic saline that help to improve lung functions.
  • Specific drugs for liver disease or diabetes
  • Oral pancreatic enzymes that help in the absorption of the nutrients by your digestive tract.
  • Acid-reducing medications for the proper functioning of pancreatic enzymes.

Gene-targeting medications

Your doctor may recommend cystic fibrosis transmembrane conductance regulator (CTFR) modulators if you have the gene mutations. The medication improves the functioning of the faulty CFTR protein. It reduces the amount of salt in sweat and improves lung function. Your doctor may conduct eye exams and liver function tests before prescribing these drugs. Regular follow-ups help in the monitoring of the disease while you take these medications.

Airway clearance technique

Also called chest physical therapy (CPT), these techniques relieve mucus obstruction for reducing inflammation and infection in the airways. They loosen the thick mucus in the lungs and performed several times in a day. The breathing and coughing techniques help to loosen the mucus.

Pulmonary rehabilitation

Pulmonary rehabilitation includes nutritional counseling, physical exercises, education counseling about your condition, breathing techniques to improve breathing, and counseling & support.

Surgery and other treatments

The various surgical procedures for cystic fibrosis are:

  • Nasal and sinus surgery- Removal of nasal polyps that obstruct your breathing and treat recurrent sinusitis (inflammation in the sinus).
  • Oxygen therapy- Your doctor may ask you to breathe pure oxygen for preventing high blood pressure in the lungs.
  • Feeding tube- It helps to deliver extra nutrition. It is a temporary tube inserted into your nose and guided till the stomach. It helps to give extra calories during the day or night.
  • Noninvasive ventilation- It provides positive pressure in your airways and lungs when you breathe. Usually combined with oxygen therapy, it increases air exchange in the lungs and held with airway clearance.
  • Bowel surgery- The surgery removes the blockage in the bowel.
    • Liver transplant- For the severe conditions of the disease, this is the right option.
  • Lung transplant- Lungs transplants are an ideal choice for severe breathing problems, increased resistance to antibiotics for lung infections, and life-threatening lung complications. There are no chances of recurrence of cystic fibrosis after the transplantation of the lungs in your body.

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