How Do You Track Progression of Cystic Fibrosis

Diagnosis

To diagnose cystic fibrosis, doctors typically do a physical exam, review your symptoms and conduct several tests.

Newborn screening and diagnosis

Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin immediately.

In one screening test, a blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released by the pancreas. A newborn's IRT levels may be high because of premature birth or a stressful delivery. For that reason, other tests may be needed to confirm a diagnosis of cystic fibrosis.

To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test once the infant is at least 2 weeks old. A sweat-producing chemical is applied to a small area of skin. Then the sweat is collected to test it and see if it's saltier than normal. Testing done at a care center accredited by the Cystic Fibrosis Foundation helps ensure reliable results.

Doctors may also recommend genetic tests for specific defects on the gene responsible for cystic fibrosis. Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis.

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 CF if you have recurring bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.

Treatment

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.

Managing cystic fibrosis is complex, so consider getting treatment at a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition.

The goals of treatment include:

Preventing and controlling infections that occur in the lungs
Removing and loosening mucus from the lungs
Treating and preventing intestinal blockage
Providing adequate nutrition

Medications

Options include:

Medications that target gene mutations, including a new medication that combines three drugs to treat the most common genetic mutation causing CF and is considered a major achievement in treatment
Antibiotics to treat and prevent lung infections
Anti-inflammatory medications to lessen swelling in the airways in your lungs
Mucus-thinning drugs, such as hypertonic saline, to help you cough up the mucus, which can improve lung function
Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes
Oral pancreatic enzymes to help your digestive tract absorb nutrients
Stool softeners to prevent constipation or bowel obstruction
Acid-reducing medications to help pancreatic enzymes work better
Specific drugs for diabetes or liver disease, when appropriate

Medications that target genes

For those with cystic fibrosis who have certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductance regulator (CFTR) modulators. These newer medications help improve the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat.

The FDA has approved these medications for treating CF in people with one or more mutations in the CFTR gene:

The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and considered a breakthrough by many experts.
The combination medication containing tezacaftor and ivacaftor (Symdeko) is approved for people age 6 years and older.
The combination medication containing lumacaftor and ivacaftor (Orkambi) is approved for people who are age 2 years and older.
Ivacaftor (Kalydeco) has been approved for people who are 6 months and older.

A milestone treatment for CF

Tim Myer has lived with cystic fibrosis (CF) his whole life. He was awaiting a lung transplant when a new medication approved by the Food and Drug Administration changed everything. Myer and Dr. Mark Wylam, a Mayo Clinic pulmonologist who is Myer's physician, share the remarkable story.

Mayo Clinic Q&A podcast

Doctors may conduct liver function tests and eye exams before prescribing these medications. While taking these drugs, testing on a regular basis is needed to check for side effects such as liver function abnormalities and cataracts. Ask your doctor and pharmacist for information on possible side effects and what to watch for.

Keep regular follow-up appointments so your doctor can monitor you while taking these medications. Talk to your doctor about any side effects that you experience.

Airway clearance techniques

A doctor with a person wearing a vest for vest therapy Vest therapy

Using a personalized approach, a Mayo Clinic respiratory therapist discusses inflatable vest therapy with an adult who has cystic fibrosis.

Airway clearance techniques — also called chest physical therapy (CPT) — can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up.

Airway clearing techniques are usually done several times a day. Different types of CPT can be used to loosen and remove mucus, and a combination of techniques may be recommended.

A common technique is clapping with cupped hands on the front and back of the chest.
Certain breathing and coughing techniques also may be used to help loosen the mucus.
Mechanical devices can help loosen lung mucus. Devices include a tube that you blow into and a machine that pulses air into the lungs (vibrating vest). Vigorous exercise also may be used to clear mucus.

Your doctor will instruct you on the type and frequency of chest physical therapy that's best for you.

Pulmonary rehabilitation

Your doctor may recommend a long-term program that may improve your lung function and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:

Physical exercise that may improve your condition
Breathing techniques that may help loosen mucus and improve breathing
Nutritional counseling
Counseling and support
Education about your condition

Surgical and other procedures

Options for certain conditions caused by cystic fibrosis include:

Nasal and sinus surgery. Your doctor may recommend surgery to remove nasal polyps that obstruct breathing. Sinus surgery may be done to treat recurrent or chronic sinusitis.
Oxygen therapy. If your blood oxygen level declines, your doctor may recommend that you breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).
Noninvasive ventilation. Typically used while sleeping, noninvasive ventilation uses a nose or mouth mask to provide positive pressure in the airway and lungs when you breathe in. It's often used in combination with oxygen therapy. Noninvasive ventilation can increase air exchange in the lungs and decrease the work of breathing. The treatment may also help with airway clearance.
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. This tube may be a temporary tube inserted into your nose and guided to your stomach, or the tube may be surgically implanted in the abdomen. The tube can be used to give extra calories during the day or night and does not prevent eating by mouth.
Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it. Intussusception, where a segment of intestine has telescoped inside an adjacent section of intestine, also may require surgical repair.
Lung transplant. If you have severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics for lung infections, lung transplantation may be an option. Because bacteria line the airways in diseases that cause permanent widening of the large airways (bronchiectasis), such as cystic fibrosis, both lungs need to be replaced.

Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with CF — such as sinus infections, diabetes, pancreas conditions and osteoporosis — can still occur after a lung transplant.
Liver transplant. For severe cystic fibrosis-related liver disease, such as cirrhosis, liver transplant may be an option. In some people, a liver transplant may be combined with lung or pancreas transplants.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

You can manage your condition and minimize complications in several ways.

Pay attention to nutrition and fluid intake

Cystic fibrosis can cause malnourishment because the enzymes needed for digestion can't reach your small intestine, preventing food from being absorbed. People with CF may need a much higher number of calories daily than do people without the condition.

A healthy diet is important to growth and development and to maintain good lung function. It's also important to drink lots of fluids, which can help thin the mucus in your lungs. You may work with a dietitian to develop a nutrition plan.

Your doctor may recommend:

Pancreatic enzyme capsules with every meal and snack
Medications to suppress acid production
Supplemental high-calorie nutrition
Special fat-soluble vitamins
Extra fiber to prevent intestinal blockage
Extra salt, especially during hot weather or before exercising
Adequate water intake, especially during hot weather

Keep vaccinations up to date

In addition to receiving other usual childhood vaccines, people with cystic fibrosis should have the annual flu vaccine and any other vaccines their doctors recommend, such as the vaccine to prevent pneumonia. CF doesn't affect the immune system, but children with CF are more likely to develop complications when they become sick.

Exercise

Regular exercise helps loosen mucus in your airways and strengthens your heart. Because people with cystic fibrosis are living longer, maintaining good cardiovascular fitness for a healthy life is important. Anything that gets you moving, including walking and biking, can help.

Eliminate smoke

Don't smoke, and don't allow other people to smoke around you or your child. Secondhand smoke is harmful for everyone, but especially for people with cystic fibrosis, as is air pollution.

Encourage hand-washing

Teach all the members of your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand-washing is the best way to protect against infection.

Attend medical appointments

You'll have ongoing care from your doctor and other medical professionals.

Make sure to attend your regular follow-up appointments.
Take your medications as prescribed and follow therapies as instructed.
Talk to your doctor about how to manage symptoms and the warning signs of serious complications.

Coping and support

If you or someone you love has cystic fibrosis, you may experience strong emotions such as depression, anxiety, anger or fear. These issues may be especially common in teens. These tips may help.

Find support. Talking openly about how you feel can help. It also may help to talk with others who are dealing with the same issues. That might mean joining a support group for yourself, or finding a support group for parents of children with cystic fibrosis. Older children with CF may want to join a CF group to meet and talk with others who have the disorder.
Seek professional help. If you or your child is depressed or anxious, it may help to meet with a mental health professional. He or she can talk with you about feelings and coping strategies, and may suggest medications or other treatments as well.
Spend time with friends and family. Having their support can help you manage stress and reduce anxiety. Ask your friends or family for help if you need it.
Take time to learn about cystic fibrosis. If your child has cystic fibrosis, encourage him or her to learn about CF. Find out how medical care is managed for children with CF as they grow older and reach adulthood. Talk with your doctor if you have questions about care.

Preparing for your appointment

Make an appointment with your doctor if you or your child has signs or symptoms common to cystic fibrosis. After the initial evaluation, you may be referred to a doctor trained in evaluating and treating CF.

Here's some information to help you prepare for your appointment, as well as what to expect from your doctor.

What you can do

You may want to prepare answers to these questions:

What symptoms are you or your child experiencing?
When did the symptoms start?
Does anything make the symptoms better or worse?
Has anyone in your family ever had cystic fibrosis?
Has growth been normal and weight been stable?

What to expect from your doctor

After getting detailed information about the symptoms and your family's medical history, your doctor may order tests to help with diagnosis and plan treatment.

Nov. 23, 2021

How Do You Track Progression of Cystic Fibrosis

Source: https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706