Cystic fibrosis is a hereditary disease that causes the body to produce thick and sticky mucus that can clog the lungs and obstruct the pancreas. This genetic disease can be life threatening, and affects an estimated 30,000 children and adults in the US, with around 1,000 new cases diagnosed each year. The majority (75%) of these new diagnoses are made in children under the age of two.1
People with cystic fibrosis (CF) tend to have a shorter-than-normal life span.2 In the 1950s, many children with CF died before attending elementary school. Now, though, people with CF often live into their 30s, 40s and beyond, thanks to significant improvements in treatment for this disease. However, there is still no known cure for cystic fibrosis.
Contents of this article:
You will also see introductions at the end of some sections to any recent developments that have been covered by MNT's news stories. Also look out for links to information about related conditions.
Fast facts on cystic fibrosis
Here are some key points about cystic fibrosis. More detail and supporting information is in the main article.
- Cystic fibrosis primarily affects the lungs and digestive system.
- It leads to the production of mucus that is much thicker and more sticky than usual.
- Cystic fibrosis is a hereditary condition, caused by a defective gene.
- The cystic fibrosis gene must be present in both parents for a child to have the condition.
- Over 10 million Americans are carriers of the cystic fibrosis gene.
- All newborn babies in the US are screened for cystic fibrosis.
- Cystic fibrosis is most commonly diagnosed via a sweat test.
- There are over 1,900 known mutations of the cystic fibrosis gene.
- Even people with the same gene variation can have vastly different phenotypes, causing significant differences in symptoms and prognosis.
- There is currently no absolute cure for cystic fibrosis.
- Problems caused by cystic fibrosis can be lessened through good nutrition and by taking steps to thin mucus and improve mucus expectoration.
What is cystic fibrosis?
Respiratory failure is the most common cause of death in people with cystic fibrosis.
Cystic fibrosis is a genetic disease that primarily affects the lungs and digestive system, although it can also result in sterility in men, and is associated with co-morbidities such as liver disease and diabetes.11
The defective gene responsible for cystic fibrosis leads to the creation of thicker, stickier mucus than is usual. This mucus is difficult to cough out of the lungs, which can hamper breathing and lead to severe lung infections.
The digestive effects of cystic fibrosis are due to mucus interfering with pancreatic function by preventing enzymes from breaking down food properly. This can lead to malnutrition.2,3
Cystic fibrosis is a serious condition, with potentially life threatening consequences. The most common cause of death in people with CF is respiratory failure.2
What causes cystic fibrosis?
Cystic fibrosis is an inherited condition caused by a defective gene.
Cystic fibrosis is an inherited condition. For someone to have CF, they need to inherit the defective gene from both of their parents.
The defective gene codes for production of a protein that controls the flow of salt and water outside the organs, including the lungs and the pancreas. In cystic fibrosis, the balance of salt is disturbed, leading to too little salt and water outside of the cells, resulting in the production of thicker mucus than normal.
People with only one copy of the defective gene are called carriers, but they do not suffer from the condition or its symptoms. In order for an individual to have the disease, both of their parents must be carriers.
If two carriers have a child, there is a:
- 25% (1 in 4) chance the child will have CF
- 50% (1 in 2) chance the child will be a carrier but will not have CF
- 25% (1 in 4) chance the child will not be a carrier and will not have CF.3
Over 10 million Americans carry the cystic fibrosis gene and are unaware.2
Recent developments on cystic fibrosis causes from MNT news
Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis (CF); it is unclear how many of them contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious.
The microorganisms that complicate the health of people with cystic fibrosis can survive on little to no oxygen, biologists have found.
Signs and symptoms
Here is a list of the most common symptoms of CF:34
- Salty tasting skin
- Persistent coughing
- Shortness of breath
- Poor weight gain in spite of excessive appetite
- Greasy, bulky stools
- Nasal polyps: small fleshy growths found in the nose.
Because of the way in which CF leads to obstruction of the lungs, CF creates excellent conditions for the growth of pathogens, increasing the risk of lung infections such as bronchitis and pneumonia; obstruction in the pancreas can lead to malnutrition and poor growth, and has been associated with an increased risk of diabetes and osteoporosis.5
Tests and diagnosis
All babies in the US are screened for CF by testing a small blood sample or samples. This can indicate that a baby might have a health condition and require further investigation.6
CF is usually diagnosed by carrying out a sweat test. Sweat is collected and the amount of chloride, a component of salt in the sweat, is measured. If a high level of chloride is present then the patient has cystic fibrosis.
Genetic tests can also be carried out by analyzing cells from inside the cheek or a blood sample. These tests are mainly used to find out if a person carries the CF gene, but they can also be used to confirm a CF diagnosis if a sweat test result is unclear.
There are over 1,900 known mutations of the CF gene. As a result, most genetic tests for the condition only screen for the most common mutations. Three-quarters of people with CF are diagnosed by the age of 2.3
Recent developments on cystic fibrosis diagnosis from MNT news
On November 19th, 2013, the US Food and Drug Administration allowed marketing of four diagnostic devices that can be used for high throughput gene sequencing, often referred to as "next generation sequencing" (NGS). These instruments, reagents and test systems allow labs to sequence a patient's DNA (deoxyribonucleic acid).
There is currently no cure for CF. There are, however, forms of treatment that can be used in order to tackle the symptoms of the disease and improve the quality of life. CF symptoms can vary from person to person, and so treatment plans for people with CF will be individualized.3
It is very important for people with CF to get rid of mucus from their lungs. The thicker than normal mucus restricts breathing and increases the risk of lung infections.
Inhaled medication can thin the mucus, kill bacteria and draw more water into the airways in people with cystic fibrosis.
People with CF are able to use airway clearance techniques (ACT) to loosen and get rid of mucus from their lungs. An example of the ACT would be "postural drainage and percussion;" a person with CF has their chest and back clapped whilst they sit, stand or lie in a position that should help to free up mucus.
Inhaled medication is commonly used as it is effective at reaching the airways. The medication can be given by aerosol or as a metered dose inhaler. These medications can thin mucus, kill bacteria and draw more water into the airways.
Antibiotics are an important part of regular care for people with CF; these can be taken orally, intravenously or inhaled.
Other drugs, such as ibuprofen and azithromycin, have been found to preserve and improve lung function, and are now considered to be a part of standard therapy for people with CF.
People with CF can also help reduce their risk of lung infection by taking the following steps:8
- Wash hands frequently
- Get a flu shot every year
- Do not smoke and avoid second-hand smoke
- Avoid unnecessary contact with people who have colds or other contagious illnesses.
Other forms of treatment
- Implanted Devices: these can allow long-term access to the bloodstream in order for frequent and regular administration of drugs7
- Kalydeco: this is a new form of medication that targets the faulty gene that is the underlying cause of CF. It allows for proper flow of salt and fluids on the surface of the lungs, thinning the thick mucus that people with CF usually have built up in their lungs. It is available for children aged 6 and older who have the G551D mutation of CF.9
As CF can affect the way in which the digestive system works, it is advisable for people with CF to discuss their diets with their doctors. A different kind of diet or additional supplements such as pancreatic enzyme supplements or vitamins may be required to make up for the improper absorption of nutrients.8
People with CF can have impaired growth, meaning that children and teens with CF will need extra calories in their diets in order to grow and develop properly.
Good nutrition is very important for people with CF, as they need to maintain a robust defence against an increased risk of lung infection.7 A high-calorie, high-fat diet is essential for normal growth and development in children with CF, and can help adults to maintain optimal health.10
The median predicted age of survival for people with CF is currently in the early 40s. Life expectancy is strongly affected by the severity of the disease, age of diagnosis and the type of CF gene mutation the person has.3 With routine therapies and by looking after themselves, most people with CF are able to lead active lives.10
Recent developments on cystic fibrosis treatment from MNT news
A ground-breaking new form of treatment for cystic fibrosis could benefit nearly half of patients with the disease, a study has found.
The results of a trial provide the first proof of concept that non-viral gene therapy is safe and can benefit lung function in patients with cystic fibrosis, say investigators writing in The Lancet Respiratory Medicine.
Yeast is helping to tackle the root cause of cystic fibrosis - a disease that results from faulty ion channels. A new study shows how a small molecule can take the place of a missing protein in yeast cells with faulty ion channels, enabling them to work again.
In the past, attempts to find out if gene therapy could work as a treatment for cystic fibrosis have not been met with much success. Now, new research shows how an improved gene therapy showed promising results in mice with cystic fibrosis.