Cystic Fibrosis Explained

Signs and Symptoms of Cystic Fibrosis

What Are the Signs and Symptoms of Cystic Fibrosis?

Most of the symptoms of cystic fibrosis (CF) are caused by the thick, sticky mucus. The most common symptoms include:

• Frequent coughing that brings up thick sputum, or phlegm (flem).
• Frequent bouts of bronchitis and pneumonia. They can lead to inflammation and permanent lung damage.
• Salty-tasting skin.
• Dehydration.
• Infertility (mostly in men).
• Ongoing diarrhea or bulky, foul-smelling, and greasy stools.
• Huge appetite but poor weight gain and growth. This is called “failure to thrive.” It is a result of chronic malnutrition because you do not get enough nutrients from your food.
• Stomach pain and discomfort caused by too much gas in your intestines.

CF can also lead to other medical problems, including:

• Sinusitis. The sinuses are air-filled spaces behind your eyes, nose, and forehead. They produce mucus and help keep the lining of your nose moist. When the sinuses become swollen, they get blocked with mucus and can become infected. Most people with CF develop sinusitis.
• Bronchiectasis. Bronchiectasis is a lung disease in which the bronchial tubes, or large airways in your lungs, become stretched out and flabby over time and form pockets where mucus collects. The mucus provides a breeding ground for bacteria. This leads to repeated lung infections. Each infection does more damage to the bronchial tubes. If not treated, bronchiectasis can lead to serious illness, including respiratory failure.
• Pancreatitis. Pancreatitis is inflammation in the pancreas that causes pain.
• Episodes of intestinal blockage, especially in newborns.
• Nasal polyps, or growths in your nose, that may require surgery.
• Clubbing. Clubbing is the widening and rounding of the tips of your fingers and toes. It develops because your lungs are not moving enough oxygen into your blood stream.
• Collapsed lung. This is also called pneumothorax.
• Rectal prolapse. Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum.
• Liver disease due to inflammation or blocked bile ducts.
• Diabetes
• Gallstones
• Low bone density because you do not get enough Vitamin D.

How Is Cystic Fibrosis Diagnosed?

First, your doctor will obtain a detailed medical and family history and perform a thorough physical examination. Next, your doctor may order some tests to ensure an accurate diagnosis.

The sweat test is the most useful test for diagnosing cystic fibrosis (CF). It measures the amount of salt in your sweat. For this test, doctors rub a small amount of a chemical called pilocarpine on your arm or leg. They then attach an electrode to this spot. The electrode provides a mild electric current that produces sweat. This may cause tingling or a feeling of warmth. They then cover the area with a gauze pad or filter paper and wrap in plastic. After 30 to 40 minutes, they remove the plastic so the sweat that collected on the pad or paper can be analyzed. The test is usually done twice. High salt levels mean CF.

Your doctor may also do the following tests to understand more about your condition and how to treat it:

• Blood tests to look for an abnormal CF gene or other things that indicate CF.
• Chest x ray. A chest x ray takes a picture of your lungs. It can show scarring from inflammation in your lungs.
• Sinus x ray. This test may show signs of sinusitis.
• Lung function tests can measure:
  • How much air your lungs can hold
  • How quickly you can breathe air out of your lungs
  • How well your lungs add oxygen to and remove carbon dioxide from your blood
• Sputum (phlegm) cultures. Doctors take a sample of your sputum to see what bacteria are growing in it.

CF Carrier Testing

You may want to check whether you are a CF carrier, if:

• You have a family history of CF.
• You are a partner of someone with CF.
• You are a couple planning a pregnancy.

A genetics counselor at your local hospital can take a blood or saliva sample to see if it contains the abnormal CFTR gene that causes CF. It will detect 9 out of 10 cases of CF. Some insurance plans cover genetic testing.