Get Treatment For Cystic Fibrosis

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Why Choose Cedars-Sinai Marina del Rey Hospital for Cystic Fibrosis Treatment?

We provide a team approach to care founded on board-certified physicians who are experts in the field of pulmonology. Our center is staffed by an experienced team of clinicians who are exploring new tools and approaches to support patients and families by helping them better manage their disease and improve their quality of life.

We offer a multidisciplinary treatment care team including physicians - usually a pulmonologist, or lung specialist - nurses, dieticians, pharmacists, and respiratory therapists. Finally, the most important members of the care team are the patients and their families. Taking an active role in your treatment, and talking to your healthcare team about what works, and what doesn’t, helps them tailor your treatment to your specific needs.

Cystic fibrosis is a progressive disease, caused by a mutated gene that affects multiple body systems but chiefly results in chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients.

The gene affected by cystic fibrosis controls the flow of certain salts and water in and out of the body’s cells. As the movement of salt and water in and out of cells changes, the body produces mucus that is abnormally thick and sticky that clogs certain parts of the body.

This glue-like mucus builds up and causes problems in many of the body's organs and systems, including:

  • Respiratory - sinuses and lungs
  • Digestive - the pancreas, liver, gallbladder, and intestines
  • Reproductive - both men and women may have reproductive system issues
  • Sweat glands - when people with cystic fibrosis sweat, they lose large amounts of salt. This upsets the balance of minerals (salts and sugar) in the body and leads to other health problems.

More than 30,000 people in the U.S. have the disease. More than half of those are age 18 or older. Although cystic fibrosis is a life-threatening condition, better treatments have made it possible for people with this disease to live longer lives. Most people with cystic fibrosis live into their late 30s and many even into their 50s or longer. Some patients now live into their 70s.

Although there is currently no cure for cystic fibrosis, a number of new therapies are available to help control the symptoms, prevent or reduce complications, and extend the patient's lifespan. Our well-trained specialists at Cedars Sinai Marina del Rey Hospital will work with you to develop an individualized plan that may include one or more of the following strategies:

  • Airway Clearance - Freeing mucus from the lungs improves their function and is critical for managing cystic fibrosis.
  • Pulmonary Rehabilitation - Our experienced nurses and respiratory therapists can get you started in a pulmonary rehabilitation program, which includes exercise to improve lung function.
  • Oxygen Therapy - Adults with advanced cystic fibrosis may require oxygen therapy.
  • Surgery - Sometimes cystic fibrosis causes problems that can only be fixed by surgery or another type of medical procedure such as sinus surgery, feeding tube, and bowel surgery.
  • Lung transplant - Adults with severe cystic fibrosis may be candidates for a lung transplant.

Drugs for Cystic Fibrosis

Medications play an important role in managing the challenging symptoms of cystic fibrosis. Our healthcare team can develop a medication regimen that is right for you, which may include:

  • Mucus-thinning medicines and other medications to help keep your airways clear. Dornase alfa, for example, is a highly purified solution that contains an enzyme that liquefies secretions;
  • Bronchodilators and anti-inflammatories. These are used to decrease inflammation and swelling, thin the mucus, open airways, and help to breathe;
  • Antibiotics (oral, inhaled, or intravenous) to control infections;
  • Pancreatic enzyme products to help digestion.

New medications known as Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators have been developed that work on treating the underlying cause of cystic fibrosis by helping to correct the malfunctioning protein made by the CFTR gene.

Because cystic fibrosis is caused by many mutations each modulator therapy works for different mutations. There are four CFTR modulators for patients with certain CFTR mutations: 

  • Kalydeco
  • Orkambi
  • Symdeko
  • Trikafta

Scientists have found over 2,000 different mutations in the CFTR gene that can cause cystic fibrosis. The most recent classification system group mutations by the problems that they cause in the production of the CFTR protein include:

  • Protein production mutations (Class 1)
  • Protein processing mutations (Class 2)
  • Gating mutations (Class 3)
  • Conduction mutations (Class 4)
  • Insufficient protein mutations (Class 5)

Symptoms of Cystic Fibrosis

In people with cystic fibrosis, the lungs make thicker sputum than normal. This can cause symptoms such as:

  • persistent coughing, at times with phlegm
  • wheezing
  • shortness of breath
  • frequent lung infections

Thickened mucus secretions can also block the normal flow of digestive juices from the pancreas, which means food cannot be digested or absorbed properly, in particular fatty foods and fat-soluble vitamins (vitamins A, D, E, and K). This can cause:

  • malnutrition
  • poor weight gain
  • a bloated abdomen
  • tummy aches
  • difficulty with bowel movements

Other symptoms can include facial pain, chronic congestion, postnasal drip, loss of smell or taste, headaches, a constant need to clear the throat. Some adults with cystic fibrosis may also get cystic fibrosis-related diabetes (CFRD), blocked bile duct, liver problems, arthritis, osteoporosis, and distal intestinal obstruction syndrome (DIOS).

Babies born with cystic fibrosis often show symptoms in the first year, but some children may not show symptoms until later in life, which is why identification through newborn screening is so important.

Early signs of cystic fibrosis include:

  • salty sweat – parents may notice a salty taste when kissing their baby
  • low birth weight and/or poor weight gain
  • constant coughing and wheezing
  • thick mucus or phlegm
  • greasy, smelly stools which are bulky and pale-colored

Diagnosis of Cystic Fibrosis

Doctors use many different tests to confirm cystic fibrosis diagnosis, such as:

  • sweat chloride test – to measure the amount of chloride, a part of salt. Test results will confirm cystic fibrosis diagnosis by showing a high chloride level.

Sweat test interpretation:

Chloride Concentration 0 – 29 mmol/L - cystic fibrosis is unlikely

Chloride Concentration 30 – 59 mmol/L - intermediate

Chloride Concentration ≥ 60 mmol/L - indicative of cystic fibrosis

  • cystic fibrosis genotyping - a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis
  • Nasal Potential Difference (NPD) - is a sensitive test of electrolyte transport that provides evidence of the abnormal function of the cystic fibrosis transmembrane conductance regulator (CFTR).

Additional testing:

  • chest CT - cystic fibrosis patients may have mild lung disease and normal chest X-rays may have changes that can be discovered only by a chest CT.
  • sinus CT - sinus CT scans in patients with cystic fibrosis often show complete filling of the sinuses with mucus. Structural abnormalities such as nasal polyps can also be detected.
  • airway culture - sputum cultures from individuals with cystic fibrosis grow characteristic types of bacteria. Approximately, 80 percent of these cultures grow Pseudomonas aeruginosa or Staphylococcus aureus - the most dangerous of all of the many common staphylococcal bacteria.
  • qualitative/quantitative stool fat - this test measures the amount of fat in a stool sample; too much fat may mean the digestive system is not working correctly.

Newborns are screened for cystic fibrosis (CF) as part of each state's newborn screening program; the screening program begins with a blood test from the baby to check for higher than normal levels of a chemical called immunoreactive trypsinogen, which is released by the pancreas.

The tests presented above can also be carried out in older children and adults with symptoms of cystic fibrosis who haven't been screened previously.

People with a family history of cystic fibrosis can be tested to determine if they are at risk of having a child with the condition by checking if they are a carrier of the cystic fibrosis gene.

Risk Factors for Cystic Fibrosis

Because cystic fibrosis is a genetic disorder, it runs in families, so a family history of cystic fibrosis is a risk factor. If your both parents are carriers of the CFTR gene that contains mutations, you would have:

  • 25 percent chance of inheriting two copies and having cystic fibrosis
  • 50 percent chance of inheriting one copy and being a carrier, but will not have cystic fibrosis
  • 25 percent chance that you will not inherit the mutated gene and not being affected

Cystic fibrosis affects both males and females from all racial and ethnic groups, but it is more common in white population from Northern Europe countries. Cystic fibrosis occurs less frequently in the African-American, Hispanic-American, Asian-American, and Native American populations.

According to the Cystic Fibrosis Foundation, the risk of certain ethnicities carrying the non-functioning gene is:

  • 1 in 29 Caucasian-Americans
  • 1 in 46 Hispanic-Americans
  • 1 in 65 African-Americans
  • 1 in 90 Asian-Americans

Causes of Cystic Fibrosis

There are two ways to look at what causes this progressive, genetic disease:

  • how it occurs on the cellular level
  • how a child inherits cystic fibrosis

A mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene causes cystic fibrosis. The CFTR mutations cause dysfunctional regulation of cell electrolytes and water content. Electrolytes are substances in the blood that are critical to cell function and cell signaling.

Cystic fibrosis is caused by mutations or errors, in the CFTR gene that a child inherits from both of their parents. To be born with cystic fibrosis, a child has to inherit two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene - one from each of their parents. Parents who carry the cystic fibrosis gene are often healthy and have no symptoms of the disease, and yet are still likely to pass it on to their children.

Intense treatment regimes can place a significant burden on patients, compromised by medication side-effects, respiratory infections, fatigue, depression, and pain, adversely affecting the quality of life and survival.

Holistic practices - Many people with cystic fibrosis use practices outside of conventional medicine, such as aromatherapy, yoga, massage, meditation, chiropractic, essential oils, reflexology, and reiki. None of these seem to interfere with conventional treatments and often provide great relief for pain, anxiety, and clinical depression while increasing general well-being. Traditional Chinese Medicine can help cystic fibrosis sufferers. Acupuncture, for example, will certainly not do any harm alongside other treatments, and there are preliminary indications that it may be of benefit.

Nutritional management as a part of multidisciplinary care for infants, children, and adults with cystic fibrosis, plays a key role in maintaining a good nutritional status associated with longer survival and a better quality of life. Many parents are so focused on increasing the weight of children with cystic fibrosis that they allow them to eat too much “fatty foods” and/or fast food. Instead, the following strategy is preferable:

A lower ratio of omega-6 fatty acids (most refined vegetable oils, such as safflower, sunflower, corn, and sesame found in many snack foods). Replace these oils with monounsaturated and polyunsaturated fats known as the “good fats”. Good sources include extra virgin olive oil, expeller-pressed canola oil, or grapeseed oil, avocados, nuts (almonds, peanuts, macadamia, hazelnuts, pecans, cashews), and seeds.

Increase intake of omega-3 fatty acids - good sources include wild Alaskan salmon, sardines, freshly ground flaxseeds, walnuts;

Reduce the consumption of ultra-processed foods, especially products sweetened with high fructose corn syrup;

Emphasize carbohydrate foods on the low-glycemic index (fruits and vegetables, chewy, minimally processed grains, beans, sweet potatoes, etc.).

Young patients should take multivitamins as well as antioxidants to build lung and liver health. Probiotics, also known as "the good bacteria", can help lessen both lung and digestive problems. Seek products that contain Lactobacillus GG. Exercise is an important element in cystic fibrosis management, martial arts are often an ideal choice.

Because cystic fibrosis is an inherited disease, there is nothing that you can do to prevent it.

If both parents are carriers of the CFTR gene that contains mutations, they may wish to consider their chances of having a child with cystic fibrosis. Genetic testing of the unborn baby for cystic fibrosis can be done in the uterus and requires taking fluid or tissue samples from the womb. There are no treatments available to prevent the development of cystic fibrosis in children born with the condition.

If you have cystic fibrosis, keep regular follow-up appointments so your doctor can monitor your condition. This will check how well your treatment is working and whether anything needs to be changed.

When you're seen at Cedars Sinai Marina del Rey Hospital, our care team will recommend treatment based on cystic fibrosis clinical care guidelines. These guidelines are based on the latest medical evidence and best practices that make up specialized cystic fibrosis care so that you can receive the safest and most effective treatments.

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