Cystic Fibrosis (CF) is an inherited disease of the secretory glands that produce mucus and sweat. You may only associate mucus with your nose, but this slippery substance lines other major organs and body cavities and the molecular tools used to make it are used in many organs including the lungs, pancreas, liver, intestines, and sex organs.
How Cystic Fibrosis Affects the Body
In a healthy person, mucus serves to keep the nasal passages moist and filters out particles and harmful bacteria as you breathe. But in CF, the molecular tools used to keep the mucus moist are broken. As a result, the mucus becomes extremely thick. It can build up in the lungs, making it hard to breathe and allowing bacteria to grow more easily. Repeated infections cause scarring, called fibrosis, and lead to a gradual deterioration of the lungs.
CF can impair the function of other organs as well. The pancreas produces enzymes that aid in the digestion of food. These enzymes rely on mucus and other fluids to make it to the small intestine. The abnormally thick secretions of CF can blocks the pancreatic ducts that lead to the digestive system, interfering with the body’s ability to digest food and absorb essential vitamins and nutrients.
CF also causes your sweat to become excessively salty because the skin has trouble pumping out the right water balance. This can disrupt the correct balance of minerals in your body.
A Range of Symptoms
Some newborns with cystic fibrosis have symptoms such as an intestinal blockage at birth. People born with a milder form may not start to experience symptoms until they are in their teenage years or young adulthood.
Respiratory system signs
- Repeated lung and sinus infections
- Frequent cases of bronchitis and pneumonia
- Persistent coughing and increased phlegm
Digestive system signs
- Vitamin deficiency, leading to poor growth and malnutrition
- Severe constipation, gas, bulky stools, abdominal pain and bloating
- Frequent diarrhea
- Increased risk of diabetes and osteoporosis
Signs related to salty sweat
- Increased heart rate
- Low blood pressure
There may be a variety of other complications as well.
People who suffer from CF have shorter-than-average life expectancies.
Until the 1980s, children and teens died from the disease. But thanks to advances in treatment, CF sufferers are now living into their thirties, forties and fifties.
The most common cause of death is respiratory failure.
Who has cystic fibrosis?
In the U.S., about 30,000 people have CF (70,000 worldwide). In order to develop the disease, an infant must be born with two copies of the defective gene – one from each parent. If, however, two CF carriers have a child, it doesn’t automatically mean their baby will have cystic fibrosis – health experts say there’s a 25% chance.
Approximately 10 million Americans carry a faulty CF gene without knowing it. While the disease affects people of different races and ethnicities, it’s most frequently seen in white people. While there are over 1,800 known mutations that cause the condition, most genetic tests screen for the most common ones.
When is it diagnosed?
All newborns are screened for cystic fibrosis using a blood test. A sweat test is then done to confirm the diagnosis in babies with a positive screening test. A genetic test is another commonly used way to diagnose CF.
How is it treated?
While there is no cure for CF, significant advances in treatment help manage the disease. Medical care is determined by the severity of the symptoms.
Daily treatment may include:
- Clearing the airways – often through a vibrating inflatable vest or chest physical therapy
- Mucus-thinning medications
- Antibiotics to treat lung infections
- Anti-inflammatory medications
- Bronchodilators (drugs that help open airways)
- Pancreatic enzyme supplement (to help absorb vital nutrients)
- Nutritional therapy (a high-calorie, high-fat diet may be recommended to make up for nutritional deficiencies)
- Oxygen therapy
- Vitamins, minerals or other supplements
People with CF are especially susceptible to lung infections. Health experts advise that people with CF take these additional steps to avoid illness:
- Frequently wash hands with soap and water.
- Avoid contact with people who have a contagious illness, such as a cold.
- Get the flu vaccination every year.
Don’t smoke and avoid secondhand smoke.