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Cystic Fibrosis (CF)
Wednesday, 25 June 2003
Monday, 25 July 2005

What

Cystic fibrosis (CF) is a genetic disease that leads to thick secretions in the lungs, pancreas, liver, intestine, and reproductive tract.

Who

CF is the most common inherited disease resulting in mortality among Caucasians, particularly of western and central European origin. In the United States Caucasian population, it occurs at an incidence of 1 in 2,000-2,600 live births. Among Hispanics, the incidence is 1 in 9,200, and in African-Americans, the incidence is 1 in 17,000. Asian populations have an incidence of 1 in 90,000. Among the Caucasian population, 5% are carriers, meaning they have one of at least 1,000 genetic mutations that may cause cystic fibrosis in their children. Cystic fibrosis occurs equally frequently in boys and girls. The diagnosis is usually made before the age of 3, however it may also manifest itself after age 18 in as many as 10% of patients.

Signs and Symptoms

As a genetic disease, cystic fibrosis can affect almost every organ system of the body. About 40% of patients find out they have CF because they have chronic respiratory symptoms such as frequent pneumonia, bronchitis, or cough. Sinusitis occurs in almost all CF patients over 8 months old, and nasal polyps (benign tissue growths in the nose) are found at some time in approximately 30% of CF patients. CF is often detected by poor growth in young children in their early years of life, due to their poor ability to absorb nutrients from the food they eat. CF may affect the pancreas, the organ that makes enzymes important for digestion in addition to hormones that regulate sugar such as insulin. The damage to the pancreas has three major effects. First, most babies with CF have greasy, smelly stools because they cannot digest the fat they eat. In fact, 10-15% of newborns with CF may not be able to pass their first stool, known as “meconium ileus.” This causes an intestinal blockage that may require surgery to correct. Second, older children with CF may develop diabetes because they cannot produce enough insulin. Third, children with CF are prone to forming gallstones, because the thickened mucous blocks the ducts which drain bile through the pancreas. In older patients, infertility can be a significant symptom. Over 95% of men with CF, and 20% of women have problems with fertility. Nevertheless those with CF can, on occasion, become pregnant or father a child, and adequate birth control is still necessary if avoiding pregnancy is desired.

Possible Causes

Cystic fibrosis is an autosomal recessive disorder caused by the inheritance of changes in the CF gene. The most common change in the gene is called F508 (pronounced “delta F 5-oh-8”), but there are a wide variety of other changes that can result in CF. The CF gene is responsible for making a protein known as the cystic fibrosis transmembrane conductance regulator, or CFTR. This protein is in tissues that secrete substances and is responsible for transporting chloride molecules and ultimately regulating water transport in and out of tissues. With a non-working protein, thick secretions build up in the lungs, pancreas, liver, intestine, and reproductive tract and cause more salt and sweat to be lost from sweat glands. With the build up of mucus in the lungs, more bacteria can stick to the lungs, leading to a vicious cycle of inflammation, obstruction, and infection.

Diagnosis

Cystic fibrosis is suspected based on the symptoms that are mentioned above, and can be confirmed by either a sweat test or genetic testing. The gold standard test is a sweat chloride test that collects sweat and measure the amount of chloride in the sweat. Large amounts of chloride in the sweat give the diagnosis of CF. The sweat test is difficult to perform in young children because a specific amount of sweat must be obtained for an accurate diagnosis. Malnutrition and swelling, in addition to steroids, can also falsely decrease the amount of chloride in sweat. Genetic testing can avoid some of these problems. Testing for 20-30 of the most common CF gene changes can detect about 90% of CF. Of the remaining 10% of CF patients, there are over 1,000 possible changes in the gene that can lead to CF. Because there are so many different kinds of changes in the CF gene, genetic tests can be falsely negative, meaning that the patient has CF but the genetic test is unable to detect it, so the test is reported as false. False negatives are a particular problem for patients who are not Caucasian, because these populations tend to have the less common gene changes.

Treatment

CF is a lifelong, multi-system disease that shortens the patient’s lifespan. Treatment therefore requires a multidisciplinary team approach to the symptoms, including respiratory, nutrition, and psychosocial issues, preferably by a major regional medical center with appropriate services geared towards cystic fibrosis. Commonly, respiratory exacerbations occur with increased coughing, more phlegm, and difficulty breathing. Breathing status is monitored by pulmonary function tests (PFTs), which are a series of breathing tests measured by a special machine which the patient breathes into during different exercises. The goal is to keep lung function as close to normal as possible for as long as possible. Bacteria and/or fungi will eventually infect the lungs and will require antibiotic therapy. It may be difficult to eradicate these infections, and the bacteria themselves may acquire resistance to the medications. Frequent cultures are done on the phlegm/sputum of CF patients to determine what organisms are present and what medications will be effective against them. Infection control is also important to prevent the spread of organisms, especially treatment resistant ones, from patient-to-patient. Good hand washing and appropriate masks, gowns, and gloves may be necessary when patients are hospitalized to prevent the spread of these organisms. Other medications are available for symptomatic relief. Clearing mucus from the lungs is an important and basic part of the daily treatment regimen to ensure adequate oxygenation and comfort. Medication such as dornase alfa is available to decrease the thickness of sputum. Albuterol and other inhaled medications are useful to decrease coughing, help clear secretions, and decrease the hyper-reactivity in the lungs that can interfere with breathing. Chest physiotherapy and exercise are key parts of therapy. Chest physiotherapy can be done by using a series of positions and gently pounding the patient’s back, or using a special vest which vibrates the chest to help loosen secretions. CF patients survive better if their nutrition can be optimized. Adequate calories are necessary for catch up growth and may require supplemental formulas and special diets. Supplemental vitamins are needed to provide those vitamins that CF patients have trouble absorbing. Pancreatic enzymes may also be given to help digest food for better absorption. CF patients may require insulin if they develop diabetes because their pancreas is so damaged. For CF patients whose airways have become too damaged to function adequately, lung and heart-lung transplantation is an option.

Prognosis

The severity of the symptoms of CF varies widely because there are many different genetic mutations that cause CF. Most patients die prematurely from respiratory failure. However, over the last 30 years, there has been a dramatic increase in survival. According to the National Patient Registry of the Cystic Fibrosis Registry, the average age of survival for a person with CF in 2004 has increased to 35.1 years. Approximately 40% of the CF population is over 18 years of age. Careful attention to optimizing lung function with medicines, physiotherapy, and nutrition can clearly improve patient’s outcomes.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The Cystic Fibrosis Foundation
A comprehensive website with information about the disease, about treatment options and about ongoing research and clinical trials. C

ystic Fibrosis.com
A resource center for cystic fibrosis information and a special kids information site.

Cystic-L 
The focus of this group is to provide support to individuals with cystic fibrosis and their families. The website is also a place for the sharing of information, including important medical information. You can find a plethora of pictures and personal bios from individuals living with cystic fibrosis.

The Breathing Room
This site, aimed at reaching patients and their families, offers guidance about living with cystic fibrosis.

Healing Well 
This is a great directory of CF resources and a great starting point for web-based CF research.

Google Search for Cystic Fibrosis (CF)

References and Sources

MacLusky I , Levison H (1998). “Cystic Fibrosis.” Kendig’s Disorders of the Respiratory Tract in Children. Ed. Chernick V and Boat TF. Philadelphia, PA: WB Saunders, 838-882. Ramsey BW. Management of pulmonary disease in patients with cystic fibrosis. New England Journal of Medicine. 335(3): 179-188. Borowitz D, Baker RD, Stallings V (2002). Consensus report on nutrition for pediatric patients with cystic fibrosis. Journal of Pediatric Gastroenterology and Nutrition. Sept 35:246-259. www.cff.org