Cystic Fibrosis

What's In This Guide?

    Cystic fibrosis is a life-threatening disorder that results in a shortened life for those afflicted. Because it’s rare, knowing what it entails is critical for parents, caretakers and patients alike.

    We want to make sure you have all the information you need at your fingertips so you can make the best decisions possible in cooperation with your doctor.

    Quick Overview

    A fatal disorder, cystic fibrosis is a rare disease that’s only diagnosed approximately 1,000 times each year.

    It results in the thickening of secretions including mucus, and the failure to remove excess salt from the skin, which can result in secondary conditions, some of which can be life-threatening.

    The life expectancy, while it used to be in the teens, has vastly improved thanks to medical and technological advancements that make it possible to protect a person’s quality of life. While there is no cure for the disorder, treatment makes living longer and better possible.

    What Is Cystic Fibrosis?

    Cystic fibrosis is a genetically-inherited disorder that drastically shortens the lifespan of the person who has the disease.

    It’s passed down by both parents who carry a mutated gene that affects the way the body secretes. As the disorder affects people differently, depending on the type of defect in the CF gene, some of those afflicted have more severe symptoms than others.

    As it progresses, cystic fibrosis leads to damage in the body’s major organs including, but not limited to the digestive system, lungs and pancreas. Ultimately, it claims the life of the person who has it, and the average life expectancy of someone with the disorder is 37.5 years.

    This is a far cry from when children were dying in their teens just 50 years ago. As research continues to advance, the life expectancy continues to grow and there are currently rare cases of patients with cystic fibrosis living into their 40s or 50s.

    Currently, there are approximately 30,000 people with cystic fibrosis in the United States. Up to 10 million more Americans are carriers and risk passing the gene mutation onto their children.

    What Are the Symptoms of Cystic Fibrosis?

    The severity of the symptoms of cystic fibrosis varies from person to person, but they affect the same organs and systems within the body.

    Most of the symptoms a cystic fibrosis patient will experience involve the digestive and respiratory systems. The main area that concerns doctors is the lungs because 90 percent of cystic fibrosis patients die due to lung disease and complications.

    Respiratory System Symptoms

    Because the mucus in a person with CF is stickier and thicker, it can cause a host of symptoms in the respiratory system including the bronchial tubes. Some of the signs that a person has the disorder include, but are not limited to:

    • Wheezing
    • Inability to catch one’s breath
    • Stuffy nose
    • Inflamed nasal passages
    • Chronic lung infections
    • Chronic cough that produces thick sputum
    • Intolerance for exercise
    • Emphysema

    While these are not always indicative of cystic fibrosis, they will prompt your doctor to take a closer look and potentially test for the disorder.

    Digestive System Symptoms

    The disorder also affects the digestive system in numerous ways, particularly with the thick mucus blocking critical passageways that transport digestive enzymes from the pancreas to the small intestine. This results in:

    • Inability to absorb nutrients
    • Intestinal blockages – especially in newborns
    • Greasy stools that smell foul
    • Chronic, severe constipation
    • Poor growth and weight gain despite a large appetite
    • Pancreatitis
    • Gallstones
    • Liver disease

    Newborns who don’t pass their first stool, also known as meconium ileus, may be held in the hospital longer, at least until they do. The inability to pass this stool may be a clear indicator that more testing is needed before they’re discharged.

    Furthermore, children who are constipated tend to strain during bowel movements which can result in rectal prolapse.

    Other Symptoms

    There are some symptoms that don’t involve the digestive or respiratory function, but rather relate to the salt level of CF patients. Parents may taste the saltiness on their child’s skin when they kiss them.

    Additionally, when people with CF sweat, they lose a larger amount of salt than normal people do. This can lead to other symptoms, such as:

    • Weakness
    • Fatigue
    • Low blood pressure
    • Increased heart rate
    • Dehydration
    • Heat stroke

    In very rare instances, the loss of extreme amounts of salt can lead to death. This is why it’s important for patients to follow their doctor’s treatment and care plans to avoid these severe symptoms.

    What Are the Complications of Cystic Fibrosis?

    The further the disorder progresses, the more complications a patient is likely to experience. This results in worsening of symptoms and the introduction of new ones.

    Respiratory System Complications

    Because of the persistent coughing and blockages, the respiratory system is especially susceptible to complications, some of which can be life-threatening.

    • Bronchiectasis – a condition that causes damaged airways, makes it hard for patients to breathe and even to clear mucus from the bronchial tubes.
    • Pneumothorax – a condition that results in trapped air between the chest wall and lungs, results in breathlessness and chest pain in CF patients.
    • Chronic infections – both in the sinus area and lungs, caused by the thick mucus that can harbor bacteria and fungi.
    • Respiratory failure – CF damages lung tissue to the point that it severely affects lung function to the point that it becomes life-threatening.
    • Hemoptysis – when the airway walls thin out, it can lead to hemoptysis, which is when a person coughs up blood.
    • Polyps in the nose – polyps, which are soft, fleshy growths, tend to appear in the nasal passages because of the inflammation that cystic fibrosis causes.

    Digestive System Complications

    The most common digestive system complications result in blockages in the intestine. These blockages can be partial or complete. Other complications may include:

    • Diabetes – because the disorder affects the pancreas, the organ responsible for insulin production, cystic fibrosis comes with a higher risk of diabetes. It affects approximately 30 percent of patients by the time they hit their 30s.
    • Bile duct blockages – the blockage of a person’s bile duct can lead to the development of gallstones or worse, liver problems that require additional treatment.
    • Nutritional deficiencies – because mucus blocks the passage of digestive enzymes to the intestines, it becomes nearly impossible for the body to absorb the nutrients it needs, including fats, protein and vitamins.

    Other Complications

    In addition to respiratory and digestive system complications, cystic fibrosis patients may experience other complications such as osteoporosis, which is a thinning of the bones, and dehydration or electrolyte imbalances when they lose dangerous amounts of salt.

    Fertility is often a major concern for those who have the disorder. Women with cystic fibrosis, for example, may be less fertile than women without the disorder.

    However, they can still become pregnant and carry babies to term. They should consult with their doctors because there is the possibility that the pregnancy could exacerbate the symptoms of the disorder and they may need additional monitoring.

    Most men with the condition, on the other hand, are unable to father children because the thicker mucus tends to block the vas deferens. Sometimes the vas deferens is simply missing, so there’s no route for the sperm to travel.

    Having children is not impossible, however, as there are surgical procedures that can help or at the very least, fertility treatments such as in-vitro fertilization are an option.

    How Is Cystic Fibrosis Inherited?

    Cystic fibrosis is inherited in an autosomal recessive pattern. This means that there have to be two copies of the mutated gene in order for the disease to take root.

    Those who develop cystic fibrosis inherit one copy of the gene from each parent.

    Not everyone who has a copy of the mutated gene will develop the disease; those with only one copy are considered carriers. However, if they have a baby with someone else who has the gene defect, they can have a child who develops the disease.

    What Causes Cystic Fibrosis?

    Cystic fibrosis is caused by a mutation in the CF gene, which is located on chromosome 7.

    This mutation affects the cystic fibrosis transmembrane regulator protein, which is responsible for your body’s secretions. Where in most people the secretions are slippery, aiding in digestion, removing sweat and mucus from the body, those with cystic fibrosis have secretions that are instead thick and sticky.

    Diagnosis of Cystic Fibrosis

    Since a person is born with cystic fibrosis, screening for the disorder now begins at birth.

    Doctors in the hospital will test newborns through a blood sample that tests the pancreas and a genetic test looking for the mutated CF gene. In the event that the test comes back negative, whether due to human error or overlooking the mutation, and parents suspect that there’s an issue, doctors have other ways of diagnosing the disorder.

    How Do You Diagnose Cystic Fibrosis?

    Cystic fibrosis requires a doctor’s diagnosis, and in order to get that diagnosis, a physician will evaluate the patient’s symptoms as well as take a family history. If they suspect cystic fibrosis as one of the possibilities, they will proceed with testing.

    How Do Doctors Test for Cystic Fibrosis?

    In the case of a missed diagnosis during newborn screening or in children and adults who weren’t screened, doctors can order different tests to diagnose it later in life. The two most common are sweat and genetic.

    Sweat Testing

    A sweat test involves the application of a sweat-inducing chemical to a small area of a patient’s skin. Once the sweat’s collected, doctors check the salt content to see if it’s higher than standard norms.

    This type of test is usually administered at least twice to confirm. If the sweat test is positive or inconclusive, it’s normally followed up by a genetic test.

    Genetic Testing

    The genetic testing for CF is relatively simple, the doctor will collect a blood sample and send it off to a lab to test for the mutated gene. Two copies of the mutation must be present in order to come back with a positive diagnosis.

    If only one copy of a mutated gene is present, the patient is considered a carrier, not one who’s actively suffering from the disorder.

    If either of these tests come back positive, they will begin treatment which may involve a variety of care options including, but not limited to:

    • Medications
    • Physical therapy
    • Surgical options
    • Rehabilitation
    • Clinical trials

    The type of treatment a patient with CF receives largely depends on the severity of the symptoms and any complications that may be present.

    Cystic Fibrosis and Genetics

    Genetics play a very critical part in whether a person develops the disorder, or even if they are a carrier who can pass it onto their children.

    As a matter of fact, genetic testing is the only way to absolutely confirm a diagnosis of cystic fibrosis and it’s used following a sweat test.

    Genetic Tests for Cystic Fibrosis: Are They Available?

    There are a variety of genetic tests for cystic fibrosis. There are those that you can have done through your doctor’s office or lab, and then there are those that you can buy for at-home use.

    The tests you get through your doctor’s office will be done either in the clinic or at a laboratory and usually involve a blood sample.

    Companies like 23andMe and Sema4 offer DNA tests that check for carrier status. You simply do a buccal swab at home and mail it to the lab in the included envelope.

    Within 4 to 8 weeks, you’ll be able to view your results online. The important thing to note is that you shouldn’t take your results from the at-home kits as a definitive or as a diagnosis.

    DNA Testing to Spot or Detect Cystic Fibrosis Early

    One of the main reasons why it’s important to undergo genetic testing to spot or detect the disorder early is to implement a care plan and treatment as soon as possible.

    People with a long family history of being carriers or having the disorder should do testing with their partners prior to attempting to conceive. This way they can determine the risks of passing down the defective gene and decide whether a pregnancy is feasible or if they should forego having children altogether.

    DNA Tests Currently Available for Cystic Fibrosis Include:

    There are currently medical diagnostic DNA tests and at-home DNA kits that are purely informational in nature.

    Though they can test for carrier status, no decisions should be made without a doctor’s input.

    Where Can I Go For a Genetic Test for My Child?

    Genetic testing for your child is typically best done by a doctor’s request through an approved laboratory. However, you can use at-home DNA tests to determine if they have carrier status, though any treatments or lifestyle changes should be discussed with a medical professional.

    DNA Testing for Cystic Fibrosis: Strengths and Limitations

    There are certain strengths to getting tested for cystic fibrosis, whether the physician is looking for carrier status or a firm diagnosis.

    Knowing if you’re a carrier can help you make future family-planning decisions. This way you can speak with a genetic counselor and learn the different potential outcomes.

    When it comes to limitations, the main downside is if you find out that you’re a carrier or that your child has the disorder, there’s really nothing you can do besides prepare for the future. Knowing you’re a carrier comes with the knowledge that you could pass it down, but it also gives you the advantage of preparing.

    And knowing whether you or your child has the disorder lets you put a treatment plan into effect so that you can improve the quality of life.

    What Are the Chances That I Will Pass Cystic Fibrosis Onto My Child?

    This can be a tricky question because there are a few different factors that go into passing the mutated gene down.

    If you are a carrier, for instance, and your partner isn’t, you don’t have to worry about your child developing the disorder. You can, as a carrier, however, pass the gene mutation down and then your child becomes a carrier.

    If you and your partner both have a copy of the mutated gene and you both pass it down to your child, the child will be born with the disorder.

    However, the odds of this are only 25 percent. The odds of your child being a carrier when both parents are, is significantly higher at 50 percent. The good news is there’s a 25 percent chance that your child will neither be a carrier nor have the disorder.

    If I have One Child With Cystic Fibrosis, Will All my Children Have it?

    No, the odds of your child having the disorder are only 25 percent, and that’s only if you and your partner are both carriers of the faulty CF gene.

    Testing for Cystic Fibrosis on a Pregnancy or Before a Pregnancy is Achieved

    If you’re a known carrier of the disease, and you suspect or confirm that your partner is, too, it’s only natural to wonder if you’re at risk of passing this defective gene onto your children.

    Before you get pregnant, both you and your partner can get genetically tested for carrier status which is usually done with a blood sample or buccal swab. If you both test positive as carriers, a genetic counselor can help you talk through the potential risks of passing the gene mutation down as well as teach you how to prepare for the possibility of having a child with the disorder.

    If you’re pregnant, you can still get tested either through amniocentesis or chorionic villus sampling, or CVS. Amniocentesis involves your doctor taking a sample of your amniotic fluid through a hollow needle that’s inserted through your abdominal wall. CVS involves collecting a placenta tissue sample.

    Who Does Cystic Fibrosis Typically Affect?

    The majority of patients diagnosed with cystic fibrosis tend to be children, though there are some that aren’t diagnosed until adulthood.

    Caucasians, typically of Northern European descent, are at a higher risk than other races. The disorder doesn’t discriminate according to gender and affects females and males equally.

    Does Cystic Fibrosis Occur in Children?

    Yes, those who have cystic fibrosis do so from birth, though it may go undetected. The majority of patients with the disorder are diagnosed by the age of 2.

    Cystic Fibrosis Treatment Options

    Is Cystic Fibrosis Treatable?

    To a point, yes, the symptoms of the disorder are treatable. The disorder will last a person’s lifetime, and eventually be responsible for their death. There are different types of treatments including medicine, surgery, rehab and physical therapy.

    The treatment plan a doctor prescribes is based on the severity of the symptoms and the person’s current quality of life.

    Medicines

    As far as medications go, a person with cystic fibrosis may be on one or several at once.

    • Antibiotics – these are commonly prescribed for those who get chronic infections due to mucus buildup.
    • Mucus-thinning medicine – this type of medication helps with removing mucus from airways, making it easier for the patient to cough it up, improving their overall lung function.
    • Pancreatic enzymes – taken orally, they help a patient absorb the nutrients that their body needs to thrive. They can help with gaining and maintaining weight.
    • Bronchodilators – these inhaled medications relax the bronchial tube muscles reducing inflammation and making it easier to breathe.
    • Anti-inflammatories – these work in the same way as bronchodilators, except they reduce swelling instead of relaxing the muscles.

    Rehabilitation and Physical Therapy

    Pulmonary rehabilitation and physical therapy can both prove to be extremely beneficial to a patient with cystic fibrosis. Physical therapy is typically focused on the chest and may involve vest therapy or clapping on the back with cupped hands, both of which are aimed at loosening up the mucus in the chest.

    Pulmonary rehabilitation tends to be a bit more involved, but it teaches patients how to cope with the disorder as well as vital information such as keeping up with nutritional needs and how to incorporate breathing techniques. Some physical exercise may be recommended to preserve the quality of your lungs as more exercise tends to slow down the progression of the disorder.

    Surgery

    In some instances, surgery is necessary to improve the quality of or remove a threat to a person’s life. Surgery ranges from simple procedures such as polyp removal and lavage to more serious situations such as removal of parts of the bowel to a double lung transplant.

    Surgery is often the last resort, so speak to your doctor about any concerns and alternative treatment measures that may be available.

    The Prognosis for Cystic Fibrosis

    While the disorder is almost always fatal, the prognosis continues to improve with medical advancements.

    Patients today are living an average of 20 years longer than they were just half a century ago. In fact, more than half of the cystic fibrosis population is already in their late teens.

    Despite the advancements, patients with the disorder will, unfortunately, live a shorter lifespan, typically only into their 30s. While there are cases of people living beyond this into their 40s and 50s, it’s pretty rare.

    There’s hope though, that in the years to come, this will become the new norm.

    Does Cystic Fibrosis Go Away?

    Is There a Cure For Cystic Fibrosis?

    Currently, there is no cure for the disorder, but clinical trials are ongoing for treatments that may enable patients to live longer than the average lifespan of 37.5 years. Since the lifespan has improved drastically over the last 50 years, there’s no reason to think the next 50 years will be any different, especially considering the technology available.

    What Are Cystic Fibrosis Care Options?

    The most commonly prescribed care options are a combination of physical exercise, therapy and medications as discussed above. The outcome for each patient will be different as the severity of the symptoms differs.