Cystic Fibrosis

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Introduction

What is cystic fibrosis?

Cystic fibrosis is an inherited disease that affects the lungs, intestines, liver and pancreas. In cystic fibrosis, mucus-producing glands make excessive amounts of abnormally thick and sticky mucus, which clogs and obstructs the body’s digestive tract and air passages. The excessive mucus leads to serious problems with digestion and breathing, which often results in an early death. Cystic fibrosis is one of the most common chronic lung diseases in children and young adults (Source: NIH).

Cystic fibrosis most often affects the lungs and pancreas. In healthy lungs, air and oxygen pass through the upper respiratory tract, through the bronchioles, and into the alveoli. The alveoli are tiny hollow sac-like structures where oxygen is absorbed into the bloodstream. In people with cystic fibrosis, the buildup of thick, sticky mucus in these air passages reduces the effectiveness of breathing and the intake of oxygen. Extra mucus also encourages the growth of bacteria and viruses and chronic lung infections.

Cystic fibrosis can also cause serious problems with the pancreas, which produces enzymes that are important for food digestion. Cystic fibrosis can cause mucus to block the ducts that carry enzymes from the pancreas to the digestive tract, leading to abnormal digestion, malnutrition, and vitamin and mineral deficiencies.

Cystic fibrosis is generally diagnosed in infancy and early childhood. Cystic fibrosis is fatal, although life expectancy can be significantly extended with an early diagnosis and consistent medical care. Life expectancy has increased dramatically in recent decades because of the development of new and improved treatments. In the 1950s, children generally died of cystic fibrosis as infants or toddlers. At this time, the average life span is about 35 years, although some people with cystic fibrosis are living into their 40s, 50s and older.

Cystic fibrosis can lead to serious and life-threatening complications, such as nutritional deficiencies, diabetes, chronic lung infections, and respiratory failure. Seek prompt medical care if you, or your child, have symptoms of cystic fibrosis, such as growth delays, weight loss, a cough that does not go away, excessively salty sweat or skin, and constipation or greasy, foul-smelling stools.

Seek immediate medical care (call 911) if you, your child, or someone you are with, have severe shortness of breath, severe difficulty breathing, chest pain, or an unexplained decrease in alertness or consciousness.

Symptoms

What are the symptoms of cystic fibrosis?

Typically, symptoms of cystic fibrosis and its complications affect the respiratory system and the digestive system. However, the symptoms vary between individuals, and not all people will experience symptoms in both body systems.

Symptoms of cystic fibrosis that affect the respiratory system

Symptoms of cystic fibrosis generally affect the lungs and the respiratory system. In healthy lungs, air and oxygen pass through the upper respiratory tract, through the bronchioles, and into the alveoli. The alveoli are tiny, hollow sac-like structures where oxygen is absorbed into the bloodstream. However, cystic fibrosis causes the buildup of thick, sticky mucus in these air passages, reducing the effectiveness of breathing and the intake of oxygen. This results in shortness of breath and a chronic cough. Mucus buildup also encourages the growth of bacteria and viruses, leading to chronic lung infections.

Symptoms related to problems with breathing and the respiratory system include:

  • Chronic cough

  • Coughing up thick sputum that may contain blood

  • Fatigue with or without exertion

  • Frequent or chronic lung infections such as pneumonia

  • Nasal congestion

  • Shortness of breath

  • Sinus pain or pressure

  • Symptoms of respiratory infections, such as fever and malaise

Symptoms of cystic fibrosis that affect the digestive system

Cystic fibrosis can cause serious problems with the pancreas, which produces enzymes that are required to digest food. Cystic fibrosis can cause mucus to block the ducts that carry enzymes from the pancreas to the digestive tract, leading to difficulties with digestion as well as vitamin and mineral deficiencies. Symptoms related to problems with digestion and the gastrointestinal system include:

  • Abdominal pain

  • Constipation

  • Feces that are fatty, greasy, unusually foul smelling, or unusually pale

  • Gas, bloating, and abdominal swelling

  • Growth delays and failure to gain weight in infants and children

  • Lack of a bowel movement in first day or two of life in a newborn

  • Nausea

  • Nutritional deficiencies and malnutrition

  • Poor appetite

  • Weight loss

  • Yellowing of the skin and whites of the eyes (jaundice) due to liver dysfunction

Other symptoms of cystic fibrosis

Symptoms of cystic fibrosis and its complications that can affect areas of the body outside the digestive and respiratory systems include:

Symptoms that might indicate a serious or life-threatening condition

Cystic fibrosis can lead to serious complications, such as diabetes, respiratory failure, liver failure, and heart failure. Seek immediate medical care (call 911) if you, your child, or someone you are with, have any of the following symptoms that may be associated with these conditions:

  • Change in consciousness or alertness including lethargy, unresponsiveness, passing out, confusion, or disorientation

  • Severe abdominal pain

  • Severe difficulty breathing including shortness of breath or wheezing (high-pitched whistling sound made with breathing)

Causes

What causes cystic fibrosis?

Cystic fibrosis is an inherited disease. It is caused by a mutation in the CFTR gene that triggers the mucus-producing glands of the body to make excessive amounts of abnormally thick and sticky mucus. A person must inherit two copies of the defective gene, one from each parent, in order to develop cystic fibrosis. Each parent of an affected individual carries one copy of the defective gene, but they do not usually show symptoms of the disease.

Cystic fibrosis is traditionally diagnosed in children. However, an increasing number of adults who have had recurring bouts of pneumonia are being diagnosed with the disease as well.

What are the risk factors for cystic fibrosis?

The major risk factor for cystic fibrosis is a family history of the disease. The defective gene is passed down through families, but you must inherit two copies of the defective cystic fibrosis gene, one from each of your parents, in order to develop the disease. The defective gene is more common in people of Northern and Central European ancestry.

Reducing your risk of cystic fibrosis

Cystic fibrosis cannot be prevented. However, couples with a family history of cystic fibrosis who are planning on having a baby can elect to determine if either or both parents carry the defective cystic fibrosis gene (CFTR).

Treatments

How is cystic fibrosis treated?

There is no cure for cystic fibrosis, but early diagnosis and consistent compliance with a treatment program can help to reduce symptoms and complications and extend life. Treatments for cystic fibrosis include a multifaceted approach that is tailored to your specific symptoms, the presence of coexisting diseases and complications, your age and medical history, and other factors.

The goals of treatment are to keep the airways in the lungs open, minimize symptoms, such as shortness of breath and frequent cough, and reduce the development of complications, such as frequent lung infections.

Drug treatment of cystic fibrosis

Cystic fibrosis is treated with a variety of medications, which vary depending on the specific symptoms and body systems that are affected. Medications can include:

  • Antibiotics to treat bacterial pneumonia and other bacterial lung infections

  • Bronchodilators to help relax and open up the lower airways in the lungs

  • Digestive enzymes to help with digestion

  • DNase enzyme treatment to thin mucus and make it easier to cough up and keep the airways clear

  • Oxygen therapy to treat moderate to severe cystic fibrosis, which results in low levels of oxygen in your blood

  • Steroid inhalers to reduce airway inflammation

  • CFTR modulators (Ivacaftor, Lumacaftor) that counteract a defective protein in select cystic fibrosis patients

  • Vitamins and other nutritional supplements to minimize vitamin deficiencies and malnutrition

Other treatments of cystic fibrosis

Cystic fibrosis is also treated with a variety of therapies, lifestyle and dietary interventions, and possibly surgery. Other treatments of cystic fibrosis include:

  • Chest physical therapy, such as chest percussion and postural drainage, which are techniques performed daily to several times a day to physically loosen and remove mucus in the lungs

  • High-protein, high-calorie diet

  • Lung transplant (definitive treatment in selected patients)
  • Lung transplant

  • Participation in a clinical trial that is testing promising new treatments

  • Prevention measures to avoid diseases that can seriously complicate cystic fibrosis and become life threatening, such as preventing pneumonia and the flu with vaccination

  • Pulmonary rehabilitation, which is a medically supervised exercise program

  • Regular but moderate exercise program

  • Staying hydrated by drinking lots of fluids to keep mucus as loose as possible

What are the possible complications of cystic fibrosis?

Complications of cystic fibrosis are serious, progressive, and eventually become life threatening and fatal. Respiratory failure is the most common cause of death in people with cystic fibrosis. You can reduce the risk of serious complications or delay their development by following the treatment plan you and your health care provider design specifically for you. Complications of cystic fibrosis can include:

  • Diabetes

  • Disability

  • Gastrointestinal conditions, such as pancreatitis, gallstones, and intestinal obstruction

  • Growth deficiencies in children and infants

  • Heart failure

  • Infertility

  • Lung disease, such as asthma, permanent lung damage, and respiratory failure

  • Recurrent and chronic sinus infections and lung infections, such as bronchitis and pneumonia

  • Serious liver problems, such as cirrhosis, portal hypertension, and liver failure

  • Sinus infections

  • Skeletal diseases, such as arthritis and osteoporosis

  • Vitamin and mineral deficiencies and malnutrition

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Medical Reviewer: William C. Lloyd III, MD, FACS
Last Review Date: 2018 Nov 12
  1. Cystic Fibrosis. PubMed Health, a service of the NLM from the NIH. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167#adam_000107.disease.prognosis
  2. About Cystic fibrosis. Cystic Fibrosis Foundation. http://www.cff.org/AboutCF/
  3. What Is Cystic Fibrosis? National Heart Lung and Blood Institute, National Institutes of Health http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html
  4. Cystic Fibrosis Transmembrane Conductance Regulator; CFTR. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim/602421
  5. Tierney LM Jr., Saint S, Whooley MA (Eds.) Current Essentials of Medicine (4th ed.). New York: McGraw-Hill, 2011.
  6. Davis PB. Another Beginning for Cystic Fibrosis Therapy. N Engl J Med 2015;373:274.

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