Cystic Fibrosis: Symptoms, Causes and Treatment

Cystic fibrosis (CF) occurs due to a genetic defect, and causes the body to produce thick, sticky mucus. People with CF often have difficulty breathing and are prone to lung infections. The disease also affects other parts of the body. There is no cure for Cystic Fibrosis. However, people with CF now live for longer periods. Cystic Fibrosis Symptoms, Causes and Treatment

Cystic fibrosis (CF) occurs due to a genetic defect. The affected gene produces a protein involved in transferring salt and water in and out of cells. The presence of the genetic defect makes the protein is less effective, leading to the production of overly sticky, very thick mucus. Individuals with Cystic Fibrosis inherited a defective gene from each of their parents. Many adults carry the defective gene and live with no symptoms of the disease. However, should they have a child with another carrier of the defective gene, that child may be born with Cystic Fibrosis.

Thickened mucus causes many lung infections in addition to regularly clogging the lungs, making breathing difficult. However, Cystic Fibrosis affects other parts of the body, including the pancreas. The pancreas, a gland that sits behind the stomach, produces digestive juices that help break down food, and hormones control blood sugar levels. Cystic Fibrosis causes clogging of the pancreas so that it no longer produces necessary food digesting enzymes. The body cannot absorb enough nutrition as a result. Other organs often affected by Cystic Fibrosis include the liver, intestines, and sinuses.

Most people have no idea they carry the defective gene that causes Cystic Fibrosis. The initial symptoms of Cystic Fibrosis in a child born to two carriers include notable salty tasting skin, often discovered when giving the baby a kiss, and no stool passed by a baby when first born.1 Other symptoms vary widely, and often do not show up until children are a bit older, although some have severe Cystic Fibrosis from birth.

Respiratory symptoms are most commonly associated with Cystic Fibrosis, and include2:
  • Thick, sticky mucus
  • Lung infections that thrive in the thick mucus
  • Frequent coughing
  • Bloody sputum
  • Lung infections caused by unusual germs
  • Frequent sinusitis
  • Nasal polyps
  • Frequent bronchitis and pneumonia
  • In advanced disease cases, pneumothorax and bronchiectasis
However, the disease also affects the pancreas, skeletal system, and reproductive system. While there is no cure for Cystic Fibrosis, living for longer periods with the disease is now possible. A generation ago, most people with Cystic Fibrosis died in childhood or as a teenager. Two generations ago, most children with the disease never made it to kindergarten.

Dealing with the disease requires an individualized treatment plan. Most people with Cystic Fibrosis practice airway clearance, which consists of several techniques3:
  • Coughing
  • Huffing, or taking a breath in and exhaling as if trying to steam up a mirror or window
  • Chest Physical Therapy  
  • Postural Drainage & Percussion through assuming different positions that help mucus drain from different areas
  • Oscillating Positive Expiratory Pressure involving exhaling completely through a specific device that causes vibrations in the airways
  • High-frequency Chest Wall Oscillation, using vibrations to loosen mucus
  • Positive Expiratory Pressure (PEP)
  • Active Cycle of Breathing Techniques such as breathing control, thoracic expansion exercises, forced expiration technique, and autogenic drainage
Beyond airway clearance techniques, Cystic Fibrosis patients also often use inhaled medicines, and may take pancreatic enzyme supplements so that they can better absorb nutrients from food.

The information on this page is not intended to be a substitute for professional medical advice, diagnosis, or treatment. For more information about cystic fibrosis, talk to your doctor or primary care provider.

Page last updated: October 14, 2018

Sources

1 https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

2 hhttps://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

3 http://www.cff.org/treatments/Therapies/Respiratory/AirwayClearance/

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