Cystic Fibrosis

Cystic fibrosis is a life-threatening disease; there is no cure. Today the average patient lives into their late 30s. Certain medications and dietary supplements can help slow cystic fibrosis symptoms.

A patient with cystic fibrosis has an abnormal electrolyte transport system leading to thick mucus build up in the lungs and digestive tract (particularly the pancreas). The mucus causes breathing problems, destruction of cells, and malabsorption of nutrients. Cystic fibrosis can also affect sweat glands and the male reproductive system.

Cystic fibrosis is an inherited disease. Millions of people across the globe are carriers of the defective gene, but may never be affected by it. To be affected with cystic fibrosis, a child must be born from parents who both carry the defective gene. If only one parent is a carrier, the child will not develop cystic fibrosis. Cystic fibrosis can often be diagnosed during a newborn screening. Otherwise, a diagnosis may come later in childhood or even during adulthood after symptoms develop.

WHAT ARE CYSTIC FIBROSIS SYMPTOMS?

Symptoms of cystic fibrosis can vary depending on what organs are affected.

Cystic fibrosis symptoms when the respiratory tract is affected include:

• Prolonged coughing with mucus build up in the lungs;

• Coughing up blood;

• Nasal congestion or pain caused by sinus infection or nasal polyps;

• Recurring episodes of pneumonia or lung infection.

Cystic fibrosis symptoms when the digestive tract is affected include:

• Stomach pains;

• Smelly stool that float, look greasy, and/or are pale in color;

• Bloating or swollen belly;

• Delayed puberty or poor growth;

• Nausea;

• Lack of appetite;

• Unexplained weight loss.

Cystic fibrosis symptoms that can appear later in life include:

• Male infertility;

• Inflammation of the pancreas (pancreatitis);

• Clubbed fingers.

HOW IS CYSTIC FIBROSIS DIAGNOSED?

Immunoreactive trypsinogen (IRT) test is the standard newborn screening test. High levels of IRT may mean the baby as cystic fibrosis. Further testing is required for definitive diagnosis.

A sweat test can measure the amounts of sodium and chloride produced by the patient’s sweat glands. High levels of sodium and chloride may mean the patient has cystic fibrosis.

Cystic fibrosis may be diagnosed by genetic testing.

Chest x-rays and lung function tests and help diagnose any mucus build up in the lungs.

Stool tests can help diagnose if the digestive tract is affected by cystic fibrosis.

WHAT ARE MY TREATMENT OPTIONS?

There is no cure for cystic fibrosis. However, certain medications and lifestyle habits can help reduce symptoms and potentially slow the disease. Patients can work with their physicians to achieve the following:

• Control airways infection and inflammation;

• Prevent future or prolonged lung infections;

• Clear mucus from the lungs via exercise and airways clearance;

• Ensure adequate nutrition, via increased caloric intake, vitamin supplementation and pancreatic enzyme replacement;

• Treat intestinal blockages;

• Use specific therapies for specific CF mutations that are available.

Good lifestyle habits should include:

• Avoiding irritants for the lungs (smoke, dust, fumes, mold, mildew, etc.);

• Staying well hydrated;

• Exercising regularly;

• Clearing mucus from the lungs every day (physicians will help develop individuals’ regimens).

The gene that causes cystic fibrosis has been identified and research is currently being done to develop additional drug regimens and gene therapy as potential treatment options for cystic fibrosis patients. A number of clinical trials are currently ongoing.