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Cystic Fibrosis: Signs, Symptoms, and Treatment

Wednesday 11 March 2020
Chronic Lung Disorders

Table of Contents


I. Cystic Fibrosis Overview

II. Genetic Cause

III. Diagnosis

IV.Symptoms

a. Respiratory

b. Digestive

c. Reproductive effect

Other complications

IV. Treatments and medications

V. Life expectancy


Cystic Fibrosis Overview

Cystic Fibrosis is a fatal genetic disease that occurs in children and young adults. There are around 30,000 people in the United States with cystic fibrosis. White newborns are more commonly affected, with 1 in 2,500-3,500 born with the condition. CF is not as prevalent in other ethnic groups. [1]

Thick mucus that clogs the airway and secreting glands characterizes cystic fibrosis. This condition affects just about every function of the body, including the lungs, pancreas, liver, intestines, sinuses, and sex organs. Medications like Ventolin inhaler can help with respiratory symptoms of this condition, but cystic fibrosis is a complicated disease, so read on to learn more.

Genetic Cause

A mutation of chromosome 7 on the CF gene causes the production of an abnormal protein (CFTR), which disrupts the chloride channels in cells. The defect in the chloride channels also causes sweat to become abnormally salty. There are over a thousand known defects that result from the abnormalities in the CFTR gene. The mutated gene prevents the regular flow of chloride ions and water across cell membranes in the lungs, pancreas, and other organs that produce mucus. This irregular flow creates the sticky mucus that causes problems all over the body.

A person with cystic fibrosis inherits two CFTR genes from their parents. If a child inherits one faulty CFTR gene, and one normal CFTR gene then the child is a “CF carrier.” If both the CFTR genes inherited by the parents are faulty, then the child will most likely have cystic fibrosis. [2]

diagram of organs affected by cystic fibrosisDiagnosis

If a pregnant woman knows that she or her husband is a CF carrier, then they can test the amniotic fluid (amniocentesis) for genetic conditions. This method involves a hollow needle insertion through the abdominal wall and then into the uterus. A pregnant woman can have an amniocentesis for CF at 15 to 20 weeks of pregnancy. She can also undergo chorionic villus sampling (CVS), which checks tissue from the placenta for genetic disorders. A CVS can be done even earlier at 10 to 12 weeks of pregnancy. [3]

If parents do not test for CF in the womb, doctors in every U.S. state check for symptoms of the illness at birth. 75% of new diagnoses occur before the age of 2. There are 1,000 new cases of CF diagnosed in the U.S. each year. If a genetic or blood test suggests CF, a sweat test is given to the child. This test involves rubbing the skin with a sweat-producing chemical and collecting sweat to test for high salt levels. High salt levels are a common symptom of cystic fibrosis.

baby getting a blood test

Once diagnosis occurs, your doctor will most likely suggest further tests such as a chest x-ray, a sinus x-ray, and a sputum culture. The x-rays help determine if any damage is occurring to the structures of the chest (heart, lungs, and blood vessels). The sputum (spit) culture lets the doctor know if specific bacteria (mucoid pseudomonas) are present, which indicates an advanced case of CF.

Symptoms

a. Respiratory

Like most diseases, symptoms of CF vary from person to person and often change over time. At birth, CF signs present themselves in salty skin when kissed as well as the infant’s inability to pass stool when born. As described earlier, those with CF produce sticky mucus that often clogs up airways, making their lungs a prime target for frequent and aggressive infections. When an infection takes hold, coughing brings up thick (sometimes bloody) sputum.

An infection of the sinuses (sinusitis) is also common, affecting the spaces around the forehead, nose, and eyes. Long term lung damage occurs if you experience frequent bouts of pneumonia and bronchitis. These unpleasant illnesses are common in CF. This is a degenerative disease, so more severe conditions are likely to happen as you continue to live with the disease. Free air in the chest cavity can cause the lung to collapse (pneumothorax), and the lung’s bronchi can also widen (bronchiectasis) as symptoms worsen.

two inhalers on a counter

b. Digestive

The tubes in the pancreas often become blocked, preventing enzymes from getting to the stomach. If proteins and fats cannot reach the intestines, greasy stools, persistent diarrhea, and intestinal blockages can occur. All these symptoms make it difficult to gain weight, and children with CF often fall behind average height and weight milestones.

Pancreatitis can occur later in life as well as diabetes and gallstones. If the bile ducts in the liver become blocked, liver disease can also present itself. A more unpleasant side effect is rectal prolapse, which happens when frequent coughing causes the rectal tissue to push itself outside of the rectum.

c. Reproductive effect of cystic fibrosis

 Because the human body is full of glands, the reproductive system is also affected by cystic fibrosis. Men with CF are born without vas deferens, so they are not able to have children. Women with CF have significant difficulties getting pregnant due to the sticky mucus blocking the cervix. In-vitro fertilization is often successful for CF women, so pregnancy is not impossible. Women can continue their CF treatment throughout their pregnancy.

d. Other complications

The lungs of someone with CF cannot move enough oxygen around the bloodstream, which results in clubbing. Clubbing refers to the rounding and widening of the tips of fingers and toes due to low oxygen levels in the blood. [2]

Low bone density is also typical, which can lead to conditions like osteoporosis (porous bone) and osteopenia (weak bones due to low minerals.  Both of these conditions most often present themselves in the later stages of CF. [4]

Treatments and medications for cystic fibrosis

There is no cure for cystic fibrosis. There may be no cure, but treatments have improved dramatically over the years. Medicine is preventative and aims to lessen symptoms and prevent lung infections. Those with CF should drink lots of fluids and stay hydrated. Aerobic exercise is also beneficial because it makes you breathe harder, which loosens the mucus in the airways. A proper food plan from a nutritionist is also helpful to CF patients because of their difficulty in gaining weight. High-calorie shakes can provide a patient with extra calories, and in more severe cases, a feeding tube can provide nutrients at night while a person is sleeping. [2]

If you have CF, your doctor will likely prescribe anti-inflammatory medicines to help thin mucus as well as bronchodilators. Some common short-acting bronchodilators that help widen the airways in the lungs like a Ventolin inhaler, which can also be found in the generic form of an albuterol inhaler. Preventative long-acting inhalers like Advair/Advair Diskus (generic form fluticasone propionate) help keep symptoms under control for the long term. [5]

child using a pulsating vest for cystic fibrosis

Chest physical therapy (CPT) also helps loosen the thick mucus in the chest. CPT involves pounding the back and chest to loosen the mucus so you can cough it up. There are many different techniques of CPT, but some people find it challenging to perform. The creation of several devices has come out of the need for CPT techniques. An inflatable therapy vest that uses high-frequency waves can be applied to the patient’s chest. The waves loosen the mucus, and productive coughing can occur. There are also handheld devices that create vibrations to loosen mucus through which a patient can exhale through. If you do not want to use these tools, various breathing techniques can also help with the excess mucus. [2]

Life Expectancy of a CF patient

Some daily activities can be difficult living with cystic fibrosis, but life expectancy has significantly increased since the 1960s. In 1962 the average lifespan of someone living with CF was 10 years old, but now the average life expectancy in the U.S. is around 37. As science and medicine advances, the lifespan will continue to increase. Those born recently in the 2000s with CF will most likely survive into their 50s with proper medication and treatment. [6]

The content in this article is intended for informational purposes only. This website does not provide medical advice. In all circumstances, you should always seek the advice of your physician and/or other qualified health professionals(s) for drug, medical condition, or treatment advice. The content provided on this website is not a substitute for professional medical advice, diagnosis or treatment.