Cystic fibrosis is an inherited disease that affects thousands of children and adults. Affecting breathing and digestion, cystic fibrosis can be life-threatening. Though there is currently no known cure for the disease, there are medical treatments that can improve the outlook for those struggling with cystic fibrosis. Most individuals with cystic fibrosis live to be in their thirties. Sadly, however, many die before reaching adulthood. As cystic fibrosis is inherited, it is not contagious.
In the United States, it is estimated that one in every 30 Americans carries the gene that causes cystic fibrosis. Many individuals carry the gene, yet do not have the disease. These people are called carriers.
In order for a child to be born with the disease, both of his parents must have the gene that causes it. When both parents carry the cystic fibrosis gene, their child has a 25% chance of being born with the disease. Happily, there is a 50% chance the child will be born a carrier and a 25% chance that she will not have the gene at all.
Cystic fibrosis wreaks havoc on the movement of salt through certain cells in the body. It particularly affects the movement of salt in cells lining the lungs and pancreas, resulting in thickened, sticky mucus. It also causes the thickening of other bodily secretions.
The thickened mucus becomes an encouraging place for bacteria to breed and grow. As a result, individuals with cystic fibrosis often suffer from frequent lung infections. Eventually, the lungs become damaged from recurrent infections.
The thickening of digestive fluids as a result of cystic fibrosis can cause the ducts that run from the pancreas to the small intestine to become clogged. When this happens, fluids cannot reach the small intestine. This is problematic because the fluids are necessary for the proper digestion of food. When these ducts are clogged, growth and digestive problems result.
There are many symptoms of cystic fibrosis, ranging from the mild to the severe. Symptoms of cystic fibrosis include coughing, wheezing, frequent lung infections, poor growth, and shortness of breath. Individuals with cystic fibrosis also commonly have intestinal blockages and stools that are greasy and bulky. Infertility is common in affected males.
Certain couples are more at risk of carrying the gene that causes cystic fibrosis and passing it on to their children. If an individual has a family history of cystic fibrosis, he or she is more likely to carry the gene. The gene that causes cystic fibrosis is most common in Caucasians. However, the disease affects individuals of all races.
There is a cystic fibrosis carrier-screening test available to those who are pregnant or planning a pregnancy. The test involves taking a sample of blood or saliva and sending it to a lab to test for the gene that causes the disease. Though the test is elective, many medical authorities recommend it for all couples expecting a baby or planning for pregnancy.
There is no cure for cystic fibrosis, but many treatments and therapies can make cystic fibrosis easier to live with.
It is difficult to predict life expectancy for people with cystic fibrosis as the condition affects everyone differently. According to statistics, around half of all people with cystic fibrosis can expect to live beyond the age of 38.
When a child is born with cystic fibrosis, symptoms usually appear in the first year of life, although occasionally they can develop later.
The thick sticky mucus in the body affects a number of organs, particularly the lungs and digestive system.
The symptoms and related problems of cystic fibrosis can vary in severity from person to person.
The main symptoms and problems are detailed below.
It is common for people with cystic fibrosis to have difficulties such as:
Cough and wheeze. The body tries to shift the thick mucus in the lungs by coughing it up
Recurring chest and lung infections. Infections are caused by the continual build-up of mucus in the lungs, which provides an ideal breeding ground for bacteria
People with cystic fibrosis are vulnerable to harmful lung infections caused by certain strains of bacteria (these bacteria are rarely harmful to people without cystic fibrosis).
Two strains of bacteria that commonly infect people with cystic fibrosis are Pseudomonas aeruginosa and Burkholderia cepacia complex. They multiply in the thick mucus inside the lungs and may cause serious health problems, such as repeated chest infections. The danger is that a person with cystic fibrosis who has such an infection can easily pass it on to another person with cystic fibrosis through close personal contact or by coughing near them. This is known as cross-infection.
As more and more people with cystic fibrosis become infected with these bacteria, the bacteria may become resistant to antibiotic treatment, which is why cross-infection is such a problem.
There is a concern that people with cystic fibrosis are more likely to pick up strains from each other than from the environment. For this reason, it is recommended that people with cystic fibrosis do not come into close contact with each other. Patients infected with these dangerous bacteria may be treated in separate clinics to those without the bacteria, to avoid cross-infection.
You can get more advice on cross-infection from the Cystic Fibrosis Trust website.
Cystic fibrosis can also cause mucus to block the ducts in the pancreas. The pancreas produces essential food-digesting enzymes. When it is blocked, not enough of the enzymes reach the intestines (bowel) to help break down food, which can cause:
Large, smelly stools. If the digestive enzymes are not being produced, food is not adequately digested and excess fat is lost in the stools, making them bulky, oily, smelly and difficult to flush away.
Malnutrition. Because the body cannot digest essential nutrients in food (particularly fat), it is often difficult to gain weight and infants may struggle to put on weight and grow. Adults with cystic fibrosis often find it difficult to gain and maintain weight. In children with cystic fibrosis, this can result in delayed puberty if they are severely underweight.
Diabetes. In older people with cystic fibrosis, the pancreas can become more damaged. Diabetes can develop if the pancreas does not produce enough insulin, a hormone that controls the level of sugar in the blood. Diabetes in people with cystic fibrosis is different from diabetes in people without cystic fibrosis. Usually, the symptoms of diabetes include feeling constantly thirsty, frequently needing to pass urine and feeling extremely tired. These rarely occur in patients with cystic fibrosis. People with cystic fibrosis who develop diabetes may find it difficult to gain weight or may lose weight and see a decline in their lung function. Cystic fibrosis-related diabetes is usually controlled by regular injections of insulin. Diabetes rarely occurs in children with cystic fibrosis.
People with cystic fibrosis can be prone to sinusitis and hay fever, which may need to be treated with nasal sprays or antibiotics. Some older children and adults develop nasal polyps, which are fleshy swellings that grow from the lining of the nose or sinuses. If they become troublesome, they may need to be removed.
Some older children with cystic fibrosis develop a form of arthritis (swelling and pain of the joints), usually in one or two large joints such as the knee. In most cases, symptoms improve with time and treatment.
Older children and adults may also be prone to osteoporosis (thin brittle bones) for many reasons, including repeated infection, poor growth or weight, lack of physical activity and lack of vitamins and minerals due to digestive problems. People with cystic fibrosis are more at risk of developing osteoporosis if they are taking steroids to help with lung infections.
Osteoporosis as a result of cystic fibrosis may cause joint pain and bones may fracture (break) more easily. Some people need to take drugs called bisphosphonates to help maintain their bone density.
Both men and women with cystic fibrosis can have problems conceiving children.
In virtually all men with cystic fibrosis, the tubes that carry sperm do not develop correctly, making them infertile. Women with cystic fibrosis may find that their menstrual cycle becomes absent or irregular if they are underweight. There is also an increased thickness of cervical mucus, which may reduce fertility. However, most women with cystic fibrosis can become pregnant without any difficulty.
In a few people with cystic fibrosis, the tiny bile ducts in the liver can become blocked by mucus. This can be serious as the disease progresses, and in some cases it may be necessary to have a liver transplant.
People with cystic fibrosis, especially females, are more likely to have incontinence. Urine usually leaks during coughing fits. It is important that people with cystic fibrosis are asked about this and encouraged to talk to a member of their cystic fibrosis team as soon as possible so they can get help.
There is no cure for cystic fibrosis, but treatments can ease symptoms and reduce complications.
Antibiotics. These drugs are used to treat and prevent lung infections. They may be swallowed in pill form, inhaled in a mist or delivered intravenously.
Mucus-thinning drugs. Drugs that reduce the stickiness of your mucus make it easier to cough up the mucus, which improves lung function.
Bronchodilators. Medications such as albuterol — delivered by an inhaler or a nebulizer — help keep your airways open by relaxing the muscles around your bronchial tubes.
People with cystic fibrosis need a way to physically remove thick mucus from their lungs. This is often done by manually clapping with cupped hands on the front and back of the chest — a procedure that's best performed with the person's head over the edge of the bed so that gravity helps clear the secretions.
There also are mechanical devices that help loosen lung mucus. They include:
Chest clapper. This hand-held device can mimic the effect of cupped hands clapping over the ribs.
Inflatable vest. This device vibrates at high frequency to loosen chest mucus.
Breathing devices. Performing specific breathing exercises while exhaling through the device's tube or a mask may also be helpful.
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.
Lung transplant. Your doctor may suggest lung transplantation if you have severe breathing problems, life-threatening pulmonary complications or increasing resistance to antibiotics used to treat lung infections. Because both lungs are affected by cystic fibrosis, both need to be replaced. Lung transplantation is a major operation and may lead to serious complications, especially post-surgical infections.
Bowel surgery. If you have developed a blockage in your bowel, you may need emergency surgery to remove it — especially if that part of your bowel has died. Intussusception, where a section of bowel has folded in on itself, also may require surgical repair.