Cystic fibrosis (patient information)

Cystic fibrosis
Overview
What are the symptoms?
What are the causes?
Who is at highest risk?
Diagnosis
When to seek urgent medical care?
Treatment options
Where to find medical care for Cystic fibrosis?
Prevention
What to expect (Outlook/Prognosis)?
Possible complications
Cystic fibrosis On the Web
Ongoing Trials at Clinical Trials.gov
Images of Cystic fibrosis
Videos on Cystic fibrosis
FDA on Cystic fibrosis
CDC on Cystic fibrosis
Cystic fibrosisin the news
Blogs on Cystic fibrosis
Directions to Hospitals Treating Cystic fibrosis
Risk calculators and risk factors for Cystic fibrosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor-in-Chief: Meagan E. Doherty, Shaghayegh Habibi, M.D.[2]

What are the symptoms of Cystic fibrosis?

Symptoms in newborns

• Delayed growth
• Failure to gain weight during childhood
• No bowel movements in first 24 to 48 hours of life
• Salty-tasting skin

Symptoms related to bowel function

• Belly pain from severe constipation
• Increased gas, bloating and distended abdomen
• Nausea and loss of appetite
• Pale or clay colored stool, foul smelling with mucus
• Weight loss

Symptoms related to the lungs and sinuses

• Coughing or increased mucus in the sinuses or lungs
• Fatigue
• Nasal congestion caused by nasal polyps
• Recurrent episodes of pneumonia (Symptoms include fever, increased coughing, increased shortness of breath, loss of appetite, more sputum, sinus pain or pressure caused by infection or polyps)

Diagnosis

A blood test is available to help detect cystic fibrosis. The test looks for variations in a gene known to cause the disease.

Other tests use to diagnose CF include:

• Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for cystic fibrosis. A high level of IRT suggests possible cystic fibrosis and requires further testing.
• Sweat chloride test is the standard diagnostic test for cystic fibrosis. A high salt level in the patient's sweat is a sign of the disease.

Other tests that identify problems that can be related to cystic fibrosis include:

• Chest x-ray or CT scan
• Fecal fat test
• Lung function tests
• Measurement of pancreatic function
• Secretin stimulation test
• Trypsin and chymotrypsin in stool
• Upper GI and small bowel series

Diseases with similar symptoms

• Asthma
• Chronic bronchitis
• Pneumonia
• Celiac disease

When to seek urgent medical care?

Call your health care provider if an infant or child has symptoms of cystic fibrosis.

Call your health care provider if a person with cystic fibrosis develops new symptoms or if symptoms get worse, particularly severe breathing difficulty or coughing up blood.

Call your health care provider if you or your child experiences:

• Fever, increased coughing, changes in sputum or blood in sputum, loss of appetite, or other signs of pneumonia
• Increased weight loss
• More frequent bowel movements or stools that are foul-smelling or have more mucus
• Swollen belly or increased bloating

Treatment options

An early diagnosis of cystic fibrosis and a comprehensive treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important. If possible, patients should be cared for at cystic fibrosis specialty clinics, which can be found in many communities. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults.

Treatment for lung problems includes:

• Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins 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
• DNAse enzyme replacement therapy to thin mucus and make it easier to cough up
• Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly
• Lung transplant is an option in some cases
• Oxygen therapy may be needed as lung disease gets worse

Treatment for bowel and nutritional problems may include:

• A special diet high in protein and calories for older children and adults
• Pancreatic enzymes to help absorb fats and protein
• Vitamin supplements, especially vitamins A, D, E, and K
• Your doctor can suggest other treatments if you have very hard stools

Care and monitoring at home should include:

• Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew
• Clearing or bringing up mucus or secretions from the airways. This must be done one to fours times each day. Patients, families, and caregivers must learn about doing chest percussion and postural drainage to help keep the airways clear
• 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
• Exercising two or three times each week. Swimming, jogging, and cycling are good options. Avoid contact sports, scuba diving, and endurance activities such as marathons

Where to find medical care for Cystic fibrosis?

Directions to Hospitals Treating Cystic fibrosis

Prevention of Cystic fibrosis

There is no way to prevent cystic fibrosis. Screening those with a family history of the disease may detect the cystic fibrosis gene in 60 - 90% of carriers, depending on the test used.

What to expect (Outlook/Prognosis)?

Most children with cystic fibrosis are fairly healthy until they reach adolescence or adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with cystic fibrosis finish college or find employment.

Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with cystic fibrosis who live to adulthood is approximately 35 years, a dramatic increase over the last three decades.

Death is usually caused by lung complications.

Possible complications

The most common complication is chronic respiratory infection.

• Bowel problems, such as gallstones, intestinal obstruction, and rectal prolapse
• Coughing up blood
• Chronic respiratory failure
• Diabetes
• Infertility
• Liver disease or liver failure, pancreatitis, biliary cirrhosis
• Malnutrition
• Nasal polyps and sinusitis
• Osteoporosis and arthritis
• Recurrent pneumonia
• Pneumothorax
• Right-sided heart failure (cor pulmonale)

Sources

http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html

http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm

https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

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