Cystic Fibrosis

What is Cystic Fibrosis?

cystic fibrosis

Cystic fibrosis (CF) is a disease of the secretory glands which produce mucus and sweat. Mucus is a substance made by the tissues that line certain organs and body cavities, such as the lungs and nose. Normally, mucus is a slippery and watery substance which keeps the linings of these organs moist and prevents them from drying out or getting infected. CF causes mucus to be thick and sticky. The mucus builds up in the lungs which clogs the airways causing breathing difficulties and increased bacteria production. The result is repeated and serious lung infections which lead to lung damage over time.

CF also affects the pancreas, liver, intestines, sinuses and sex organs. This thick and sticky mucus can block the ducts in the pancreas which prevents digestive enzymes from reaching the small intestine. These enzymes help breakdown food. Without them, fat and protein are not absorbed properly in the small intestine which leads to vitamin deficiency and malnutrition. Additionally patients experience intestinal gas, constipation and abdominal pain/swelling.

CF causes sweat to become very salty which causes patients to lose large amounts of salt. This can upset the balance of minerals in the blood which results in many health problems such as: dehydration, increased heart rate, fatigue, weakness, low blood pressure, heat stroke and in severe cases, death.

Children with CF are at higher risk of developing diabetes and bone-thinning diseases such as osteoporosis and osteopenia. CF can cause infertility (inability to have children) in men and difficulty becoming pregnant for women.

CF Statistics

  • 10 million Americans are carriers of the defective gene
  • 1 in 3,700 live births result in Cystic Fibrosis
  • 1,000 new cases are diagnosed every year
  • Current estimated life span is 37 years
  • High cost utilization (Kalydeco $248,000 annual)
  • Associate conditions not studied/treated
  • CF related diabetes, arthritis, renal insufficiency, cancer risk, gastro paresis, neuropathy


Symptoms of Cystic Fibrosis

The symptoms and severity of CF vary widely. Some people have serious problems from birth. Others have a milder version of the disease and symptoms are not present until they are teens or young adults.

 Newborn Signs and Symptoms

  • Skin tastes salty (parents notice when they kiss their child)
  • Failure to pass a stool when first born
  • Delayed growth and failure to gain weight

Respiratory System Signs and Symptoms

  • Wheezing or shortness of breath
  • Frequent coughing and excessive mucus in the sinuses and/or lungs
  • Frequent lung infections such as pneumonia and bronchitis (usually caused by Pseudomonas) that do not respond to standard antibiotics
  • Frequent bouts of sinusitis (sinus infection)
  • Nasal congestion and sinus pressure caused by polyps (growths) in the nose
  • Fatigue

Digestive System Signs and Symptoms

  • Poor weight gain and growth in children
  • Weight loss in adults
  • Frequent diarrhea or foul-smelling, greasy stools
  • Increased gas, severe constipation and bloating which causes stomach pain and discomfort
  • Nausea and loss of appetite

Other Signs and Symptoms

  • Sweat is very salty which leads to increased risk of dehydration
  • Low bone density which leads to osteoporosis and osteopenia
  • Clubbed fingers (widening and rounding of the tips of the fingers due to low levels of oxygen in the blood)
  • Infertility in men/Difficulty for women to become pregnant
  • Repeated inflammation of the pancreas (pancreatitis)


 

Diagnosing Cystic Fibrosis

Cystic fibrosis is an inherited disease which means the disease is passed from parents to children through genetics. People who have CF inherit two faulty genes, one from each parent. Typically the parents do not have the disease themselves. Screening those with a family history of the disease may detect the cystic fibrosis gene in many carriers.

  • A blood test is available to help detect cystic fibrosis. This test looks for changes in a gene known to cause the disease.
  • Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing.
  • Sweat chloride test is the standard diagnostic test for CF. A high salt level in the patient’s sweat is a sign of the disease.


Treatment of Cystic Fibrosis

Although there is no cure for cystic fibrosis, treatments have improved significantly in recent years. In the 1950’s, few children with CF lived long enough to go to elementary school. In 1985, the median survival age increased to 25 years. Today, with improved treatments, the median survival age for CF is 37. An early diagnosis of CF and treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important.

Treatment for lung problems:

  • Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, intravenously or by breathing treatments. People with cystic fibrosis may take antibiotics only when needed, or all the time. Doses are usually higher than normal.
  • Inhaled medicines to help open the airways
  • Other medicines that are given by a breathing treatment to thin mucus and make it easier to cough up are DNase enzyme therapy and highly concentrated salt solutions (hypertonic saline)
  • Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly (ask your health care provider)
  • Lung transplant is an option in some cases
  • Oxygen therapy may be needed as lung disease gets worse
  • Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew.

Lung problems are also treated with physical therapies to thin the mucus to make it easier to cough the mucus out of the lungs.

  • Activity or exercise that causes you to breathe deeply. Swimming, jogging, and cycling are good options.
  • Clearing or bringing up mucus or secretions from the airways through daily chest percussion and postural drainage to help keep the airways clear.
    1. Airway clearance and high frequency chest compression devices that are used during the day to help clear the airways of too much mucus
    2. Manual chest percussion (or chest physiotherapy), in which a family member or a therapist lightly claps the patient’s chest, back, and area under the arms

Treatment for digestive and nutritional problems

  • A special diet high in protein and calories for older children and adults
  • Pancreatic enzymes to help absorb fats and protein, which are taken with every meal
  • Vitamin supplements, especially vitamins A, D, E, and K
  • Treatments if you have very hard stools
  • Drinking plenty of fluids. This is particularly true for infants, children, in hot weather, when there is diarrhea or loose stools, or during extra physical activity.


TPIRC is the first Cystic Fibrosis Immunology Center

  • Dual approach focuses on immune system evaluation as part of the overall CF therapy plan and treatment

TPIRC is the first Cystic Fibrosis Exercise Rehabilitation Center

  • Focus on exercise therapy for CF which is a vital component of successful pulmonary disease clinical care

TPIRC is focused on Providing a Bridge for Lung Transplant Access for CF Patients

  • It is estimated that over 50% of CF patients listed for lung transplantation do not survive long enough to receive donor organs.
  • The process of lung transplantation candidacy is lengthy. Too often, CF patients are referred in a last minute, rushed approach. This difficult, quick referral does not allow CF patients enough time to wait for donor organs.
  • Patients who are listed for transplantation often have to wait over 8-15 months for organs. If a CF patient is referred too late, there is no bridge to survive the 8-15 months of time.
  • TPIRC is focusing on novel modalities of treatment, referral processes, rehabilitation and more to ensure lung transplantation access is available for CF patients.

TPIRC goes beyond the Status Quo

An average life expectancy of 37 is not a “great achievement”

  • TPIRC is pushing the boundaries to advance cutting edge clinical treatments which improve prognosis and life expectancy
    1. Development of improved therapies and protocols of currently available CF drug treatments
    2. Development of novel clinical treatments
    3. Development of disease stability models to allow “time” for genetic small molecule drugs to become available
  • Limited organization and protocols exist to transition care from Pediatric to Adult CF centers
    1. TPIRC is establishing protocols to provide congruous transition of care
  • NO focus on adults with moderate to severe lung function in any clinical trials
    1. TPIRC is working with the CF Center at Long Beach Memorial to develop clinical trial treatments
    2. Studying tissue samples, blood samples and more (of nearly 1,200 Southern California patients) will cross over much needed clinical and basic science CF research
  • TPIRC is training the next generation of pulmonologists who care for CF
      1. CF care is primarily served by the under represented field of pediatric pulmonology
      2. The field continues to gain interest by graduating medical students and residents

    1. Through teaching, research and academics, TPIRC is stimulating growth in this critical field, by providing access to training for multiple specialists involved in CF care

Find a Doctor

The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.

We expressly disclaim responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site.