Cystic Fibrosis

1 What is Cystic Fibrosis?

Cystic fibrosis is an inherited disorder characterized by secretions of abnormally thick mucus that obstructs passages in the lungs and pancreas.

Cystic fibrosis cannot be cured but medications can ease the symptoms.

Aggressive interventions can prolong life of the persons with cystic fibrosis.

2 Symptoms

The signs and symptoms of cystic fibrosis depend upon disease severity, and show a variable patterns of worsening or improving episodes. In some cases, the signs and symptoms may not be apparent till adolescence or adulthood. Higher salt content in sweat is a common symptom.

Respiratory signs and symptoms include:

  • A persistent cough with thick (sputum) mucus 
  • Wheezing 
  • Breathing problems 
  • Inability to exercise 
  • Recurrent infections of lungs 
  • Blocked nose 

Digestive signs and symptoms include:

  • Foul-smelling, greasy stools 
  • Failure to grow 
  • Loss of weight 
  • Bowel obstruction in newborns (meconium ileus) 
  • Protrusion of rectum outside the anus (Rectal prolapse) due to severe constipation  

Atypical symptoms include:

When to see a doctor? 

Visit your doctor if you or your child show symptoms of cystic fibrosis. Your doctor may recommend testing for the disease. Seek immediate medical attention if you or your child experiences breathing problems.

3 Causes

Cystic fibrosis is caused by faulty genes resulting in an abnormal protein that regulates movement of salt in and out of cells. Consequently, mucus in the respiratory, digestive and reproductive systems become abnormally thick and the salt content of sweat is also increased.

Cystic fibrosis develops in a child who has inherited one copy of the gene from each parent.

4 Making a Diagnosis

Your doctor may refer you or your child to a doctor who specializes in cystic fibrosis to receive a diagnosis. 

How to prepare yourself for the visit?

Getting prepared for the visit can optimize the therapy and help make the visit more fruitful.

List out all the symptoms.

Write down your key medical information. 

Write down the names of all your medications, vitamins or supplements. 

Make a list of the questions to ask your doctor. Some typical questions can be: 

  • What could be possible causes of the symptoms?
  • What are the treatment options?
  • What tests are required?
  • Is there a need to restrict any activity or diet?

What your doctor wants to know?

A clear talk with your doctor can optimize the therapy and improve the outcomes. Prepare yourself to answer some essential questions from your doctor. Your doctor might ask you typical questions like: 

  • What are your or your child’s symptoms?
  • When did you notice the symptoms?
  • Does anything improve or aggravate the symptoms? 
  • Do you have a family history of cystic fibrosis? 
  • How about your child’s growth? Is it normal? 

Some tests for the diagnosis of cystic fibrosis include: 

  • Sweat test: It measures the salt content of your sweat and determines if it is more than normal. For an infant, it is done when s/he reaches one month.
  • Genetic testing: Genetic test can be done to determine the presence of faulty genes. 
  • Newborn screening: In the US, screening facilities for newborns are available in all 50 states. A screening test checks a blood sample to determine levels of a chemical called immunoreactive trypsinogen, or IRT. Note that premature birth or stressful delivery can cause high levels of IRT in newborns. 

5 Treatment

Cystic fibrosis has no cure, however, there are various treatment options that may ease the symptoms. The treatment aims to: 

  • Prevent and control lung infections 
  • Facilitate removal of mucus from the lungs 
  • Prevent and treat intestinal obstruction
  • Maintain nutrition 

Treatment of cystic fibrosis requires a multidiscipline approach. The treatment options can be:

Non-surgical approach

It includes:

1. Medications 

  • Antibiotics for treating and preventing lung infections. 
  • Mucolytics: Mucus-thinning drugs can be given to facilitate expulsion of mucus from the airways. 
  • Bronchodilators: The agents dilate airways and facilitate flow of air. 
  • Pancreatic enzymes: They can be given orally to promote digestion.

 

2. Physical therapy: Your physical therapist can teach various exercises that loosen the thick mucus allowing its easy elimination.

3. Mechanical devices: Devices like a vibrating vest or special mask can also promote easy expulsion of the thick mucus in the lungs. 

4. Pulmonary rehabilitation: It is a long term program that helps to improve quality of life through improved lung function. Pulmonary rehabilitation includes: 

  • Exercises 
  • Nutritional support 
  • Breathing techniques 
  • Psychological support and counseling 

Surgery and other procedures 

  • Removing growths in your nose: A surgery can remove nasal polyps that causes breathing problems. 
  • Administration of pure oxygen: Breathing in pure oxygen helps to maintain blood-oxygen level as well as prevent elevated blood pressure inside the lungs (pulmonary hypertension). 
  • Endoscopy-assisted mucosal drainage. 
  • Using feeding tube: Cystic fibrosis associated nutritional deficiencies may be managed by feeding through tubes that reach your stomach via nose or that are surgically implanted on your abdomen. 
  • Bowel surgery: Bowel obstructions or folded bowels may be removed by a surgery. 
  • Lung transplant: Replacing the diseased lungs with healthy ones may be an option if you have severe breathlessness, serious lung complications or antimicrobial resistance. Cystic fibrosis affects both lungs, so both need to be replaced. 

6 Prevention

To prevent cystic fibrosis, you must first check your family history of the condition.

You may consider a genetic testing to determine the risk for your future baby if you or your partner has a family history of the disease. For an ongoing pregnancy, genetic testing can help your doctor determine the risk for your developing baby. Consult your doctor or a genetic counselor before going for a genetic testing.

7 Lifestyle and Coping

Lifestyle modifications are necessary in order to manage cystic fibrosis and reduce the risk of complications. These modicications inlude:

  • Consult your doctor before starting home remedies. 
  • Maintain nutrition and optimum fluid intake. People with cystic fibrosis may need up to 50 percent more daily calories than healthy people. 
  • Take pancreatic enzyme supplements with every meal and snack. 

You may also try these:

  • Acid-neutralizing medications 
  • High-calorie nutritional supplements 
  • Supplements of fat-soluble vitamins 
  • Consume extra fiber and extra salt 
  • Get regular immunizations: Get annual flu shots. 
  • Exercise regularly to keep your heart healthy and facilitate mucus thinning. 
  • Stay away from smoke of any type. 
  • Maintain proper hygiene and sanitation. Regular hand -washing is the key to protect against infection.
  • Join a support group to vent your emotions and feelings.
  • Consider psychological assistance from registered practitioners. 

8 Risks and Complications

There are several complications associated with cystic fibrosis, which include:

  • Male fertility problems. Fertility problems in women are less prominent. However, consult your doctor if you are planning for pregnancy.
  • Loss of bone mass (osteoporosis): Cystic fibrosis increases your risk of developing a dangerous thinning of bones. 
  • Electrolyte imbalances and dehydration: Watch for dangerous signs of dehydration such as increased heart rate, fatigue, lethargy and low blood pressure.
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