Cystic Fibrosis

Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

It is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs. The disorder’s most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Although cystic fibrosis requires daily care, people with the condition are usually able to attend school and work, and often have a better quality of life than people with cystic fibrosis had in previous decades. Improvements in screening and treatments mean people with cystic fibrosis now may live into their mid- to late 30s, on average, and some are living into their 40s and 50s.

The most commonly affected organs include the:

lungs
pancreas
liver
intestines

Symptoms of CF

The symptoms of cystic fibrosis can vary depending on the person and the severity of the condition. The age at which symptoms develop can also differ. Symptoms may appear at infancy, but for other children, symptoms may not begin until after puberty or even later in life. As time passes, the symptoms associated with the disease may get better or worse.

One of the first signs of cystic fibrosis is a strong salty taste to the skin. Parents of children with cystic fibrosis have mentioned tasting this saltiness when kissing their children.

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 signs and symptoms such as:

A persistent cough that produces thick mucus (sputum)

Wheezing
Breathlessness
Exercise intolerance
Repeated lung infections

Inflamed nasal passages or a stuffy nose

Digestive Problems

The abnormal mucus can also plug up the channels that carry the enzymes produced by the pancreas to the small intestine. Without these digestive enzymes, the intestine can’t absorb the necessary nutrients from food. This can result in:

greasy, foul-smelling stools

constipation
nausea
a swollen abdomen
loss of appetite
poor weight gain in children

delayed growth in children

Causes of Cystic Fibrosis

In cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of 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.

Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won’t develop cystic fibrosis. However, they will be carriers and possibly pass the gene to their own children.

Risk of Cystic Fibrosis

Cystic fibrosis is most common among Caucasians of Northern European descent. However, it’s known to occur in all ethnic groups.

People who have a family history of cystic fibrosis are also at an increased risk because it’s an inherited disorder.

Complications

Respiratory system complications

Damaged airways (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a condition that damages the airways. This makes it harder to move air in and out of the lungs and clear mucus from the airways (bronchial tubes).

Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosismay often have sinus infections, bronchitis or pneumonia.
Growths in the nose (nasal polyps). Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps).
Coughing up blood (hemoptysis). Over time,cystic fibrosis can cause thinning of the airway walls. As a result, teenagers and adults with cystic fibrosis may cough up blood.
This condition, in which air collects in the space that separates the lungs from the chest wall, also is more common in older people with cystic fibrosis. Pneumothorax can cause chest pain and breathlessness.
Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function usually worsens gradually, and it eventually can become life-threatening.
Acute exacerbations. People with cystic fibrosis may experience worsening of their respiratory symptoms, such as coughing and shortness of breath, for several days to weeks. This is called an acute exacerbation and requires treatment in the hospital.

Digestive system complications

Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can’t absorb protein, fats or fat-soluble vitamins.

The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes. Around 30 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 small intestine may become blocked and inflamed, leading to liver problems and sometimes gallstones.
Intestinal obstruction. Intestinal obstruction can happen to people with cystic fibrosisat all ages. Children and adults with cystic fibrosis are more likely than are infants to develop intussusception, a condition in which a section of the intestines folds in on itself like an accordion.
Distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine.

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 biological 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

Thinning of the bones (osteoporosis). People with cystic fibrosis are at higher risk of developing a dangerous thinning of bones.
Electrolyte imbalances and dehydration. Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.

Preventions of Cystic Fibrosis

Cystic fibrosis can’t be prevented. However, genetic testing should be performed for couples who have cystic fibrosis or who have relatives with the disease. Genetic testing can determine a child’s risk for cystic fibrosis by testing samples of blood or saliva from each parent. Tests can also be performed on you if you’re pregnant and concerned about your baby’s risk.

Treatment of Cystic Fibrosis

Although there’s no cure for cystic fibrosis, there are various treatments available that may help relieve symptoms and reduce the risk of complications.

Medications of Cystic Fibrosis

Antibiotics may be prescribed to get rid of a lung infection and to prevent another infection from occurring in the future. They’re usually given as liquids, tablets, or capsules. In more severe cases, injections or infusions of antibiotics can be given intravenously, or through a vein.

Mucus-thinning medications make the mucus thinner and less sticky. They also help you to cough up the mucus so it leaves the lungs. This significantly improves lung function.
Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and indomethacin, may help reduce any pain and fever associated with cystic fibrosis.
Bronchodilators relax the muscles around the tubes that carry air to the lungs, which helps increase airflow. You can take this medication through an inhaler or a nebulizer.
Bowel surgery is an emergency surgery that involves the removal of a section of the bowel. It may be performed to relieve a blockage in the bowels.
Cystic fibrosismay interfere with digestion and prevent the absorption of nutrients from food. A feeding tube to supply nutrition can be passed through the nose or surgically inserted directly into the stomach.
A lung transplant involves removing a damaged lung and replacing it with a healthy one, usually from a deceased donor. The surgery may be necessary when someone with cystic fibrosishas severe breathing problems. In some cases, both lungs may need to be replaced. This can potentially lead to serious complications after surgery, including pneumonia.

Surgical Procedures

Chest Physical Therapy

Chest therapy helps loosen the thick mucus in the lungs, making it easier to cough it up. It’s typically performed one to four times per day. A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest. Mechanical devices may also be used to clear mucus. These include:

a chest clapper, which imitates the effects of clapping with cupped hands along the sides of the chest

an inflatable vest, which vibrates at a high frequency to help remove chest mucus

Home Care

Cystic fibrosis can prevent the intestines from absorbing necessary nutrients from food. If you have cystic fibrosis, you might need up to 50 percent more calories per day than people who don’t the disease. You may also need to take pancreatic enzyme capsules with every meal. Your doctor may also recommend antacids, multivitamins, and a diet high in fiber and salt.

If you have cystic fibrosis, you should do the following:

Drink plenty of fluids because they can help thin the mucus in the lungs.

Exercise regularly to help loosen mucus in the airways. Walking, biking, and swimming are great options.
Avoid smoke, pollen, and mold whenever possible. These irritants can make symptoms worse.
Get influenza and pneumonia vaccinations regularly.

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Mohini Arora

Team Infertility Help