- Diseases, Disorders & Conditions
A Brief Overview of Cystic Fibrosis
Cystic Fibrosis Meaning
Cystic Fibrosis (CF) is an inherited genetic disorder. Person suffering from cystic fibrosis would have inherited two faulty cystic fibrosis genes, one cystic fibrosis gene from each parent.
Cystic Fibrosis Causes Early Death
This disease was first observed in the 1930s. It affects lungs and the digestive system of the patient and causes progressive disability and early death. Currently more than 30,000 people in the USA are affected by CF; around 1,000 new cases emerge every year.
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More than 30,000 people in the US are affected by cystic fibrosis
Cystic Fibrosis is a Life Shortening Disease
CF is one of the main life shortening diseases. Patients suffering from cystic fibrosis die before they reach 30 years of age, mainly due to lung failure. It is observed that Caucasians and Ashkenazi Jews are more susceptible to this disease.
Cystic Fibrosis Causes
Cystic Fibrosis has got its name from two terms "cyst" (cyst formation in the pancreas) and "fibrosis" (scarring). It is caused due to variations in the CFTR gene. This gene regulates secretion of digestive juices, mucus and sweat in the human body.
The Cystic Fibrosis Purple Awareness Ribbon T-shirt is ideal for an event or a group walk.
Cystic Fibrosis can be diagnosed before childbirth by genetic testing. In children, it can be diagnosed by sweat test, blood test and x-ray.
People with cystic fibrosis will be underweight
Mucus of the person suffering from cystic fibrosis becomes thick and sticky. Person suffering from cystic fibrosis will be underweight. Skin will be salty.
Coughing Is a Common Symptom of Cystic Fibrosis
The patient will suffer from cough and excessive phlegm secretion. Difficulty in breathing is another common symptom. Patient will also suffer from thickened secretions from the pancreas. Pancreas is responsible for secretion of digestive juices which helps in digestion. Person finally dies due to heart failure, liver failure or respiratory failure. Most of the patients suffering from cystic fibrosis will be infertile.
When you’re running with cystic fibrosis.... It's equal to running with nose clips on and breathing in and out of a straw the whole time.— Michael Caruso Davis, a long-distance runner who is affected by cystic fibrosis
Infections are treated with antibiotics. Transplantation along with gene therapy is recommended in some cases.
Lot of research is going on. Research scientists are working on inhaled spray which contain normal copies of the CF gene. Experts are working really hard to increase the life expectancy of the patients suffering from this disease and there has been a significant improvement in this over a period of time.
Kalydeco (ivacaftor) is a medicine developed and commercialized by Vertex for patients who are affected by cystic fibrosis. The drug was approved in the United States of America by the U.S. Food and Drug Administration to be used in patients older than two years. It is also available in Europe, Canada, Australia and New Zealand.
Kalydeco is a potentiator of the CF transmembrane conductance regulatory (CFTR) and was the first medicine to address the underlying causes of the disease, instead of only treating its symptoms.
This oral medication was first introduced in the country in January, 2012 to treat CF adult patients. It provides a new hope due to its unique mechanism of action. In March, 2015, new research led the FDA to approve the use of the medicine in children with determined mutations of the CF gene.
Hope for Cystic Fibrosis Patients All Over the World
"Turning 18-year- old just a few days ago was a major celebration in my life. This is not only because I have officially entered adulthood, but have reached this milestone birthday living with a genetic disease: cystic fibrosis. Had I been born with CF just a few decades earlier, reaching 18 would be highly unlikely. In fact, children born with CF often didn’t live long enough to attend kindergarten.
Thanks to advancements in science there are more drugs available for CF patients and many more in development that will allow me to live a longer, healthier and more productive life. I am happy to say that my future is bright," says Kate Marshall, York, Maine.
The Purple Leather Braided Cystic Fibrosis Bracelet is a handmade bracelet.
A Cystic Fibrosis Medicine That Halts Lung Damage
One medicine for cystic fibrosis has improved lung function in children who are less than 12 years of age. This has raised hopes that the lung damage caused by the medical condition can be halted or even reversed.
“It’s a major step forward,” said Nick Medhurst, head of policy at the Cystic Fibrosis Trust. “What these results show is that it can prevent irreversible damage.”
Ever since the CFTR gene was discovered in 1989 research scientists have strived to develop medicines that directly target the faulty protein it makes in those who have the disease, with some success.
Kalydeco helps cells make a correct version of the CFTR protein and has been available since 2012, but it only works for CFTR mutations present in 5 per cent of people with the condition.
By combining Kalydeco with another medicine known lumacaftor to create a single medicine called Orkambi, clinicians have since targeted the most common CFTR mutation and extended treatment options to half of all people suffering from the disease.
Orkambi has been approved in the US, EU and other nations. It has been shown to decrease the number of lung infections people with this disease get. However, the treatment costs £104,000 a year.
New results from a phase III clinical trial suggest that the medicine can stop the otherwise inexorable damage to the lungs that people affected by the condition experience throughout their lives.
The results also indicate that the medicine can be beneficial for young children. At present, Orkambi is only approved in the EU for people over the age of 12.
“We’ve shown that even in younger patients who have relatively mild disease, Orkambi led to improvements in lung function,” says Felix Ratjen, of the Hospital for Sick Children at the University of Toronto, in Canada.
Ratjen and his team did a trial involving 204 children between the ages of 6 and 11. Of these, 103 received Orkambi twice a day for six months, while 101 received a placebo. At the end of the trial, children who took the medicine showed improvements in two important measures of lung health.
Firstly, these children were 10 per cent better at taking in oxygen from their lungs. Secondly, the amount of chloride in their sweat dropped by around 20 per cent.
Typically, people with cystic fibrosis have three times as much chloride in their sweat than other people – a result of having malfunctioning CFTR proteins.
“I think the results are important because they provide evidence that correcting the basic defect associated with the most common mutation of cystic fibrosis is also feasible in children,” says Carla Colombo of the University of Milan in Italy.
Ratjen says that longer-term trials are needed to prove Orkambi can halt cystic fibrosis damage, but the early signs are good. “The idea of early intervention is just that,” he says. “Intervene when the damage is still limited.”
Medhurst said the latest results will strengthen calls from the Cystic Fibrosis Trust and others for Orkambi to be made more widely available. “The case is significantly strengthened by these and other data emerging worldwide.”
As for patients with cystic fibrosis who are genetically unable to benefit for Orkambi, a third medicine known as tezacaftor is being developed. It might extend treatment to 90 per cent of all people with the condition. Early results suggest this medicine and Kalydeco together can improve lung function in certain genetic types, and larger trials are planned.
Patients should make sure that they have an active life style. They should get themselves treated for any kind of lung related ailment as soon as possible to avoid further complications. They should have nutritious food and a lot of healthy fluids.
- Cystic Fibrosis is an inherited genetic disorder.
- People suffering from cystic fibrosis usually die due to lung failure.
- Cystic Fibrosis can be diagnosed before childbirth by genetic testing.
- Person suffering from cystic fibrosis will be underweight.
- Cystic fibrosis genetics is a subject of research for many scientists worldwide.
- Cystic Fibrosis is caused due to variations in the CFTR gene.
Did you know about cystic fibrosis before reading this hub?
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Poor posture and flexibility are common features in patients with CF. CF-related bone disease and abnormal respiratory mechanics lead to a high incidence of musculoskeletal pain, thoracic kyphosis, and vertebral fracture rates. All patients should have an annual musculoskeletal and postural assessment from childhood (age ~8 years), with monitoring and treatment of any musculoskeletal issues.— Alex Horsley