Respiratory Disease

Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus. It is chronic, progressive, and may be fatal.

Cystic fibrosis affects various systems in children and young adults, including the following:

respiratory system
digestive system
reproductive system

There are about 30,000 people in the US who are affected with the disease, and about 2,500 babies are born with it each year. It occurs mainly in Caucasians who have a northern European heredity, although it also occurs in African Americans, Asian Americans and Native Americans.

Approximately 1 in 20 people in the US are carriers of the cystic fibrosis gene. These people are not affected by the disease and usually do not know that they are carriers.

What are the symptoms of cystic fibrosis?

The following are the most common symptoms for cystic fibrosis; however, people may experience symptoms differently.

Abnormalities in the glands that produce sweat and mucus can cause:

loss of salt, which can cause:

an upset in the balance of minerals in the blood

abnormal heart rhythms

possibly, shock

thick mucus that accumulates in lungs and intestines, which can cause:

malnutrition

poor growth

frequent respiratory infections

breathing difficulties

lung disease

other medical problems, such as:

sinusitis

nasal polyps

clubbing of fingers and toes

pneumothorax - rupture of lung tissue

hemoptysis - coughing blood

cor pulmonale - enlargement of right side of heart

abdominal pain

gas in the intestines

rectal prolapse

liver disease

diabetes

pancreatitis

gallstones

The symptoms of cystic fibrosis may resemble other conditions or medical problems. Consult a doctor for a diagnosis.

How is cystic fibrosis diagnosed?

In addition to a complete medical history and physical examination, diagnostic procedures for cystic fibrosis include a sweat test to measure the amount of sodium chloride (salt) present. Higher than normal amounts of sodium and chloride suggest cystic fibrosis.

Other diagnostic procedures include:

chemical tests
chest x-rays
lung function tests
sputum cultures
stool evaluations

For babies, who do not produce enough sweat, blood tests may be used.

Treatment for cystic fibrosis:

Specific treatment will be determined by the doctor(s) based on:

patient's age, overall health and medical history
extent of the disease
expectations for the course of the disease
patient's tolerance for specific medications, procedures or therapies
patient's (or family's) opinion or preference

Goals of treatment are to ease severity of symptoms and slow the progress of the disease. Treatment may include:

management of problems that cause lung obstruction, which may involve:

physical therapy

exercise to loosen mucus, stimulate coughing and improve overall physical condition

medications to reduce mucus and help breathing

management of digestive problems, which may involve:

appropriate diet (well balanced, high calorie, low fat, high protein)

pancreatic enzymes to aid digestion

vitamin supplements

treatments for intestinal obstructions

This page was last updated on: January 18, 2008.

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