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Cystic fibrosisis a life-threatening disorder that causes severe damage to the lungs and digestivesystem.An inherited condition, cystic fibrosis affects the cells that produce mucus, sweat and digestive

juices. These secreted fluids are normally thin and slippery. But in cystic fibrosis, a defective gene causes

the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes,

ducts and passageways, especially in the lungs and pancreas.Although cystic fibrosis requires daily care,

most people with the condition are able to attend school and work, and have a better quality of life thanin previous decades. Recent improvements in screening and treatments mean most people with cystic

fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same

person, symptoms may worsen or improve as time passes. In some children, symptoms begin during

infancy. Other people may not experience symptoms until adolescence or adulthood.

Screening of newborns for cystic fibrosis is now performed in all 50 states. As a result, the condition is

diagnosed within the first month of life, before symptoms develop. For people born before newborn

screening was performed, it's important to be aware of the signs and symptoms of cystic fibrosis.

People with cystic fibrosis tend to have a higher than normal level of salt in their sweat. Parents often

can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis

affect the respiratory system or the digestive system.

Respiratory signs and symptoms

The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your

lungs. This can cause:

A persistent cough that produces thick spit (sputum) and mucus Wheezing Breathlessness A decreased ability to exercise Repeated lung infections Inflamed nasal passages or a stuffy nose

Digestive signs and symptoms

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small

intestine. Without these digestive enzymes, your intestines can't fully absorb the nutrients in the food

you eat. The result is often:

Foul-smelling, greasy stools Poor weight gain and growth Intestinal blockage, particularly in newborns (meconium ileus) Severe constipation

Frequent straining while passing stool can cause part of the rectum the end of the large intestine

to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic

fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse inchildren may require surgery.

In cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movementof salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and

reproductive systems, as well as increased salt in sweat. Many different defects can occur in the

gene. The type of gene mutation is associated with the severity of the condition.

The affected gene, which is inherited from a child's parents, is a recessive gene. Children need toinherit one copy of the gene from each parent in order to have the disease. If children inherit

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only one copy, they won't develop cystic fibrosis, but will be carriers and possibly pass the gene

to their own children.

The sticky mucus associated with cystic fibrosis causes many complications, the most common in the

respiratory, digestive and reproductive systems.

Respiratory system complications

Bronchiectasis. Cystic fibrosis is one of the leading causes of bronchiectasis, a condition whichdamages the airways, making it harder to move air in and out of the lungs.

Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground forbacteria and fungi. People with cystic fibrosis may have frequent bouts of sinusitis, bronchitis or

pneumonia.

Nasal polyps. Because the lining inside the nose is inflamed and swollen, it can develop soft,fleshy growths (polyps). Nasal polyps can obstruct your breathing during sleep.

Cough up blood. Over time, cystic fibrosis can cause thinning of the airway walls. As a result,teenagers and adults with cystic fibrosis may cough up blood (hemoptysis).

Pneumothorax. This condition, in which air collects in the space that separates the lungs fromthe chest wall, is also more common in older people with cystic fibrosis. Pneumothorax can

cause chest pain and breathlessness.

Collapsed lung. Repeated lung infections damage the lungs, making it more likely for the lung tocollapse.

Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longerworks. Lung function typically worsens gradually, and it eventually can become life-threatening.

Digestive system complications

Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes fromyour pancreas to your intestines. Without these enzymes, your body can't absorb protein, fats

or fat-soluble vitamins.

Diabetes. The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosisincreases the risk of diabetes. Nearly 20 percent of people with cystic fibrosis develop diabetes

by age 30.

Blocked bile duct. The tube that carries bile from your liver and gallbladder to your smallintestine may become blocked and inflamed, leading to liver problems and sometimes

gallstones.

Rectal prolapse. Frequent coughing or straining during constipation can cause internal rectaltissue to protrude outside the anus.

Intussusception. Children with cystic fibrosis are at higher risk of intussusception, a condition inwhich a section of the intestines folds in on itself like an accordion. The result is bowel

obstruction, an emergency that requires immediate treatment.

Reproductive system complications

Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate

gland (vas deferens) is either blocked with mucus or missing entirely. Certain fertility treatments and

surgical procedures sometimes make it possible for men with cystic fibrosis to become fathers.

Although women with cystic fibrosis may be less fertile than other women, it's possible for them to

conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of

cystic fibrosis, so be sure to discuss the possible risks with your doctor.

Other complications

Osteoporosis. People with cystic fibrosis are at higher risk of developing osteoporosis, adangerous thinning of bones.

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Electrolyte imbalances. Because people with cystic fibrosis have saltier sweat, the balance ofminerals in their blood may be upset. Signs and symptoms include increased heart rate, fatigue,

weakness and low blood pressure.

Newborn screening and diagnosis

Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means

treatment can begin immediately. In the screening test, a blood sample is checked for higher than

normal levels of a chemical (immunoreactive trypsinogen, or IRT) released by the pancreas.

A newborn's IRT may be high because of premature birth or a stressful delivery. For that reason other

tests are needed to confirm a diagnosis of cystic fibrosis:

Sweat test. A sweat-producing chemical is applied to a small area of skin. The collected sweat isthen tested to see if it's saltier than normal.

Genetic testing. DNA samples from blood or saliva can be checked for specific defects on thegene responsible for cystic fibrosis.

The sweat test is usually done when the infant is a month old, to ensure the sample is large enough to

be analyzed. The sweat test can determine if the infant carries the cystic fibrosis gene or has the

condition. Testing should be done at a center specializing in cystic fibrosis.

Testing of older children and adults

Cystic fibrosis tests may be recommended for older children and adults who weren't screened at birth.Your doctor may suggest genetic and sweat tests for cystic fibrosis if you have recurring bouts of

inflamed pancreas (pancreatitis), nasal polyps, chronic sinus or lung infections, bronchiectasis, or male

infertility.

Testing after diagnosis

If you have cystic fibrosis, you will need regular tests to help manage the condition:

Imaging tests. Damage to your lungs or intestines can be monitored with X-rays, CT scans andMRI.

Lung function tests. These tests measure the size of your lungs, how much air you can breathein and out, how fast you can breathe in and out, and how well your lungs deliver oxygen to your

blood.

Sputum culture. Your spit (sputum) is analyzed for bacteria.

Organ function tests. Blood tests can measure the health of your pancreas and liver. Childrenwith cystic fibrosis should be regularly tested for diabetes after age 10.

There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close

monitoring and early, aggressive intervention is recommended. Managing cystic fibrosis is complex, so

consider obtaining treatment at a center that specializes in cystic fibrosis.

The goals of treatment include:

Preventing and controlling lung infections Loosening and removing mucus from the lungs Preventing and treating intestinal blockage Providing adequate nutrition

Medications

The options include:

Antibiotics to treat and prevent lung infections Mucus-thinning drugs to help you cough up the mucus, which improves lung function Bronchodilators to help keep your airways open by relaxing the muscles around your bronchial

tubes

Oral pancreatic enzymes to help your digestive tract absorb nutrientsChest physical therapy

Loosening the thick mucus in the lungs makes it easier to cough up. Chest physical therapy helps loosen

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mucus and is usually done from one to four times a day. A common technique is clapping with cupped

hands on the front and back of the chest.

Mechanical devices also can help loosen lung mucus. The options include:

Chest clapper, a hand-held device that mimics the effect of cupped hands clapping over the ribs Inflatable vest, a device worn around the chest that vibrates at high frequency Breathing devices, usually a tube or mask through which you exhale while performing breathing

exercises

Pulmonary rehabilitation

Your doctor may recommend a long-term program to improve your lung function and overall well-being.

Pulmonary rehabilitation is usually done on an outpatient basis and may include:

Exercise training Nutritional counseling Energy-conserving techniques Breathing strategies Psychological counseling or group support or both

Surgical and other procedures

Nasal polyp removal. Your doctor may recommend surgery to remove nasal polyps thatobstruct breathing.

Oxygen therapy. If your blood-oxygen level declines, your doctor may recommend yousometimes breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary

hypertension).

Endoscopy and lavage. Mucus may be suctioned from obstructed airways through anendoscope.

Lung transplant. If you have severe breathing problems, life-threatening lung complications orincreasing resistance to antibiotics used to treat lung infections, lung transplantation may be an

option. Because both lungs are affected by cystic fibrosis, both need to be replaced. Lung

transplants for people with cystic fibrosis are controversial because studies indicate the

procedure is associated with many complications, and may not prolong life or enhance quality of

life. Feeding tube. Cystic fibrosis interferes with digestion, so you can't absorb nutrients from food

very well. Your doctor may suggest using a feeding tube to deliver extra nutrition while you

sleep. This tube may be threaded through your nose to your stomach or surgically implanted

into the abdomen.

Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it.Intussusception, where a section of bowel has folded in on itself, also may require surgical

repair.