Definition and Overview

Cystic fibrosis is a genetic condition affecting many people of all ages all over the world and up to 30,000 people in the United States, not including about a thousand new cases diagnosed every year. It is a common health problem that plagues even young children.

This condition affects the glands that produce sweat and mucus, causing the mucus they produce to become thicker and stickier than normal. This causes a ripple of negative effects on the body, particularly the lungs and the pancreas. The excess sweat production causes more salt to exit the body, causing a mineral imbalance. And when the mucus builds up, it can block the airways and make the person vulnerable to bacterial infection in the lungs. It also blocks the passage of digestive enzymes going to the intestines, making digesting food, especially fats and carbohydrates, a challenge. This may cause a problem in absorbing these nutrients.

In the past, cystic fibrosis significantly shortens a person’s lifespan, but at the present time, the disease can be managed, with most patients living up to almost 40 years of age.


Cystic fibrosis is a hereditary disease caused by a mutation or change in a gene. Thus, it is usually diagnosed when a patient is young; in fact, in some babies, this causes a blockage of the small intestine, making them unable to pass their first stool – this is an early warning sign that the baby may have cystic fibrosis. Due to the telltale signs that appear early in life, testing for this disease is already included in infant screening tests conducted right after birth. If symptoms do not appear after birth, they may develop over time.

However, a person will only get the disease if both his parents are carriers of the gene that causes it. Currently, up to 10 million people in the United States are carriers, although the majority are not aware of it.

Key Symptoms

The symptoms of cystic fibrosis tend to vary from one patient to the next. Although some early signs may crop up during infancy, there are cases in which the disease does not become obvious until the child is fully-grown. Early signs that affect children, however, may include:

  • A blocked small intestine (can be determined right after birth, especially if the baby is unable to pass his first stool)
  • Salty sweat
  • Low energy level
  • Not eating well
  • Losing weight or inability to gain weight normally
  • Bowel problems, such as chronic diarrhea, greasy stool, extremely smelly stool, or recurrent constipation
  • Breathing problems
  • Getting tired easily
  • Chronic cough
  • Wheezing

Later symptoms include:

  • Coughing up mucus
  • Bloody mucus
  • Rectal prolapse

Symptoms that may crop up in adult years include:

  • Infertility
  • Growths or polyps in the nose
  • Sinus problems
  • Clubbing of the fingers

Who to See and Types of Treatments Available

If cystic fibrosis is suspected, it is important to consult your primary care physician immediately. There are many tests used to determine whether a person has cystic fibrosis or if he is a carrier of the changed gene. If there is suspicion of the disease, it is important to get tested before or during a pregnancy.

Your primary care physician will use your medical history and physical exam results to determine your vulnerability to the disease. This will be followed by laboratory screening and diagnostic tests, which include:

  • A genetic test – A person who has cystic fibrosis has inherited one or two of the CFTR (cystic fibrosis transmembrane regulator) genes.

  • A sweat test – A person must have two positive sweat tests conducted on different dates. In both times, the level of salt present in the sweat will be measured. A higher than normal amount of salt is enough to confirm the diagnosis.

  • A nasal potential difference test – This tests how well the salt in the body flows in and out of the cells found in the electrodes on the nasal lining.

If it is confirmed that a person has cystic fibrosis, more tests need to be conducted to determine the extent of the disease and identify possible problems caused by said condition. Some examples are:

  • Lung function tests – checks the health of the lungs

  • Sputum culture – checks the kind of bacteria that may be present in a person’s body

  • CT scan – checks the health of the lungs, pancreas, and other parts of the body

  • Chest x-ray – checks the heart and lungs

  • Blood test – checks blood sugar levels and whether the liver is functioning well

  • Stool analysis – checks whether the patient is digesting nutrients well

  • Arterial blood gas analysis – compares the level of oxygen and carbon dioxide to determine the health of the lungs

Since symptoms differ for each patient, treatment for cystic fibrosis is also customized, depending on the patient’s age, health, and symptoms. A large part of treatment will focus on relieving the specific health problems that the disease causes. Following a treatment plan and working closely with a doctor will help patients live long and healthy lives despite the condition. This means you will have to go on regular trips to the doctor for checkups and monitoring.

Available treatment options included in most treatment plans include:

  • Respiratory therapy – The goal is to improve breathing and slow down lung damage by preventing infection. This involves getting rid of the mucus that accumulates in the lungs on a regular basis, either with medication or airway clearance techniques. Oxygen therapy is sometimes necessary in severe cases.

  • Digestive therapy – This involves the digestive enzyme replacement therapy; the main goal is to help the body absorb all the nutrients received from food. This may be followed by a nutritional therapy, which ensures the body gets all the nutrients it needs. In severe cases, intravenous supply of nutrients is necessary.

  • Antibiotic medication – Although this can be done through normal oral medication, some cases require the placement of an IV tube that periodically delivers antibiotics to the patient.

  • Postural drainage

All treatment plans include a home care plan. Home treatment is important and can have a huge impact on a patient’s life span. The main goal of home treatment is to prevent infection; thus, it involves maintaining a healthy and balanced diet paired with regular exercise.


  • Flume P, Sullivan B, Robinson K, Goss C, Mogayzel P, Bujan J, Finder J, Lester M, et al. (2007). “Cystic fibrosis pulmonary guidelines.” ATS Journals.
  • Longo D. (2015). “Origins of Cystic Fibrosis Lung Disease.” The New England Journal of Medicine.
  • Hurt K, Bilton D. (2012). “Cystic Fibrosis.” Medicine Journal.
  • Journal of Cystic Fibrosis
Share This Information: