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Cystic Fibrosis

Cystic Fibrosis: What You Need to Know

  • Cystic fibrosis is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus.

  • Cystic fibrosis affects various organ systems in children and young adults, including the respiratory system, digestive system and reproductive system.

  • Due to improved treatments, people with cystic fibrosis, on average, live into their mid to late 30s.

  • There are about 30,000 people in the U.S. who are affected with cystic fibrosis.

  • Cystic fibrosis occurs mainly in Caucasians of northern European ancestry, although African-Americans, Asian Americans, and Native Americans may have the disease as well.

  • Approximately one in 31 people in the U.S. are carriers of the cystic fibrosis gene.

How does cystic fibrosis affect the respiratory system?

The basis for the problem with cystic fibrosis lies in an abnormal gene. The result of this gene defect is an atypical electrolyte transport system within the cells of the body. Electrolytes are substances in blood that are critical to cell function. The abnormal transport system in cystic fibrosis causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water. This causes the normal thin secretions in our lungs to become very thick and hard to remove. These thick secretions put the child with cystic fibrosis at risk for frequent respiratory infections.

Recurrent respiratory infections lead to progressive damage in the lungs, and eventually death of the cells in the lungs. The most common causes for infection in the lungs of the cystic fibrosis patient are the following bacteria:

  • Staphylococcus aureus

  • Haemophilus influenzae

  • Pseudomonas aeruginosa (PA)

PA is the most common bacteria that causes infection and can be difficult to fight with standard antibiotics.

As a result of the high rate of infection in the lower respiratory tract, people with cystic fibrosis may develop a chronic cough, blood in the sputum, and even have a collapsed lung. The cough is usually worse in the morning or after activity.

People with cystic fibrosis also experience upper respiratory tract symptoms. Some patients have nasal polyps that require surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that can obstruct and irritate the nasal cavity. Children with cystic fibrosis may also have a higher rate of sinus infections.

How does cystic fibrosis affect the gastrointestinal (GI) system?

The organ primarily affected is the pancreas, which secretes substances that aid digestion and help control blood-glucose levels.

As a result of the abnormal electrolyte transport system in the cells, the secretions from the pancreas become thick and can lead to obstruction of the ducts of the pancreas. This obstruction may cause a decrease in the secretion of enzymes from the pancreas that normally help to digest food. A person with cystic fibrosis has difficulty absorbing proteins, fats, and vitamins A, D, E, and K.

The problems with the pancreas can become so severe that some of the cells in the pancreas are destroyed. This may lead to glucose intolerance and insulin-dependent diabetes. About 35 percent of cystic fibrosis patients develop this type of diabetes in their 20s and about 40 percent develop the disease after 30 years of age.

The symptoms that may be present due to the involvement with the GI tract include the following:

  • Bulky, greasy stools

  • Rectal prolapse. A condition in which the end part of the bowels comes out of the anus.

  • Delayed puberty

  • Fat in the stools

  • Stomach pain

  • Bloody diarrhea

The liver may also be affected. A small number of patients may actually develop liver disease. Symptoms of liver disease may include:

  • Enlarged liver

  • Swollen abdomen

  • Yellow color to the skin

  • Vomiting of blood

How does cystic fibrosis affect the reproductive system?

Most males with cystic fibrosis have obstruction of the sperm canal known as congenital bilateral absence of the vas deferens (CBAVD). This results from the abnormal electrolyte transport system in the cells, causing the secretions to become thick and may lead to obstruction and even infertility. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with cystic fibrosis are able to have children.

What are the symptoms of cystic fibrosis?

Illustration of  the anatomy of the respiratory system, showing which parts of the body are affected by cystic fibrosis
Click Image to Enlarge

The following are the most common symptoms of cystic fibrosis. However, individuals may experience symptoms differently. Symptoms may include:

  • Abnormalities in the glands that produce sweat and mucus. This may cause a loss of salt. A loss of salt may cause an upset in the balance of minerals in the blood, abnormal heart rhythms, and, possibly, low blood pressure and shock.

  • Thick mucus that accumulates in the lungs and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing difficulties, and chronic lung disease.

  • Other medical problems, such as:

    • Sinusitis

    • Nasal polyps

    • Clubbing of fingers and toes. A condition marked by extremely thickened fingertips and toes due to decreased oxygen in the blood.

    • Pneumothorax. Collapse of the lung often due to intense coughing.

    • Hemoptysis. Coughing up blood.

    • Cor pulmonale. Enlargement of the right side of the heart due to increased pressure in the lungs.

    • Abdominal pain

    • Excess gas in the intestines

    • Rectal prolapse

    • Liver disease

    • Diabetes

    • Pancreatitis. Inflammation of the pancreas that causes severe abdominal pain.

    • Gallstones

    • Congenital bilateral absence of the vas deferens (CBAVD) in males

As stated above, the symptoms of cystic fibrosis differ for each person. Infants born with cystic fibrosis usually show symptoms by age two. Some children, though, may not show symptoms until later in life. The following signs are suspicious of cystic fibrosis, and infants having these signs may be tested for cystic fibrosis:

  • Diarrhea that does not go away

  • Foul-smelling stools

  • Greasy stools

  • Frequent episodes of wheezing

  • Frequent episodes of pneumonia or other lung infections

  • Persistent cough

  • Skin tastes like salt

  • Poor growth despite a good appetite

The symptoms of cystic fibrosis may resemble other conditions or medical problems. Consult a doctor for a diagnosis.

How is cystic fibrosis diagnosed?

Most cases of cystic fibrosis are now identified with newborn screening. In addition to a complete medical history and physical examination, diagnostic procedures for cystic fibrosis include a sweat test to measure the amount of sodium chloride (salt) present. Higher than normal amounts of sodium and chloride suggest cystic fibrosis. Other diagnostic procedures include:

  • Chemical tests

  • Chest X-rays

  • Lung function tests

  • Sputum cultures

  • Stool evaluations

For babies, who do not produce enough sweat, blood tests may be used.

Treatment for cystic fibrosis

Specific treatment for cystic fibrosis will be determined by your doctor based on:

  • Your age, overall health, and medical history

  • Extent of the disease

  • Expectations for the course of the disease

  • Your tolerance for specific medications, procedures, or therapies

  • Your opinion or preference

Currently, there is no cure for cystic fibrosis. A cure would call for gene therapy at an early age and this has not been developed yet, although research is being done in this direction. The gene that causes cystic fibrosis has been identified and there are hopes that this will lead to an increased understanding of the disease. Also being researched are different drug regimens to help stop cystic fibrosis. Goals of treatment are to ease severity of symptoms and slow the progress of the disease. Treatment may include:

  • Management of problems that cause lung obstruction, which may involve:

    • Physical therapy

    • Exercise to loosen mucus, stimulate coughing, and improve overall physical condition

    • Medications to reduce mucus and help breathing

    • Antibiotics to treat infections

    • Anti-inflammatory medications

  • Management of digestive problems, which may involve:

    • Appropriate diet

    • Pancreatic enzymes to aid digestion

    • Vitamin supplements

    • Treatments for intestinal obstructions

Newer therapies include lung transplantation for patients with end-stage lung disease. The type of transplant done is usually a heart-lung transplant, or a double lung transplant. Not everyone is a candidate for a lung transplant. Discuss this with your doctor.

More Information About Cystic Fibrosis from Johns Hopkins Medicine

Novel Drug Combo Improves Function of Cystic Fibrosis Protein

A novel two-drug combination has the potential to target and restore a defective protein underlying cystic fibrosis (CF), according to two phase III clinical trials conducted at 187 medical centers around the world, including Johns Hopkins. The drug led to modest improvements in lung function, but significant reductions in hospitalizations and antibiotics needed for lung infections.

Read more.

The genetics of cystic fibrosis

Cystic fibrosis is a genetic disease. This means that cystic fibrosis is inherited. A person will be born with cystic fibrosis only if two cystic fibrosis genes are inherited--one from the mother and one from the father. A person who has only one cystic fibrosis gene is healthy and said to be a carrier of the disease. A carrier has an increased chance of having a child with cystic fibrosis. This type of inheritance is called autosomal recessive. Autosomal means that the gene is on one of the first 22 pairs of chromosomes which do not determine gender, so that the disease equally affects males and females. Recessive means that two copies of the gene, one inherited from each parent, are necessary to have the condition. Once parents have had a child with cystic fibrosis, there is a one in four, or 25 percent chance with each subsequent pregnancy, for another child to be born with cystic fibrosis. This means that there is a three out of four, or 75 percent chance, for another child to not have cystic fibrosis.

The birth of a child with cystic fibrosis is often a total surprise to a family, since most of the time (in eight out of 10 families) there is no previous family history of cystic fibrosis. Many autosomal recessive conditions occur this way. Since both parents are healthy, they had no prior knowledge that they carried the gene, nor that they passed the gene to their baby at the same time.

Genes are founds on structures in the cells of our body called chromosomes. There are normally 46 total, or 23 pairs of two chromosomes in each cell of our body. The seventh pair of chromosomes contains a gene called the cystic fibrosisTR (cystic fibrosis transmembrane regulator) gene. Mutations or errors in this gene are what cause cystic fibrosis. This gene is quite large and complex. Over 1,000 different mutations in this gene have been found which cause cystic fibrosis.

The risk for having a sporadic mutation in the gene for cystic fibrosis depends on your ethnic background (for persons without a family history of cystic fibrosis):

Ethnic background

Risk of cystic fibrosis mutation

Risk of child with cystic fibrosis

Caucasian

1 in 29

1 in 2,500-3,500

Hispanic

1 in 46

1 in 4,000-10,000

African-American

1 in 65

1 in 15,000-20,000

Asian

1 in 90

1 in 100,000

Testing for the cystic fibrosis gene can be done from a small blood sample or from a cheek swab, which is a brush rubbed against the inside of your cheek to obtain cells for testing. Laboratories generally test for the most common mutations.

There are many people with cystic fibrosis whose mutations have not been identified. In other words, all of the genetic errors that cause the disease have not been discovered. Because not all mutations are detectable, a person can still be a cystic fibrosis carrier even if no mutations were found by carrier testing.

Testing for the cystic fibrosis gene is recommended for anyone who has a family member with the disease, or whose partner is a known carrier of cystic fibrosis or affected with cystic fibrosis.

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