I felt that it was important to get some of the facts surrounding CF into an early blog post. What better way than to replicate the CF Trust’s pamphlet ‘Cystic Fibrosis what, exactly’. If you require any more information then please visit their website http://www.cycsticfibrosis.org.uk where you will find contact details for all aspects of CF support.
In 1938, Dorothy Hansine Andersen published an article, “Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: a Clinical and Pathological Study”, in the American Journal of Diseases of Children. She was the first to describe the characteristic cystic fibrosis of the pancreas and to correlate it with the lung and intestinal disease prominent in CF.
The basics… (Taken from the Cystic Fibrosis Trust’s ‘is what exactly’ leaflet)
Cystic fibrosis (CF) is one of the UK’s most common life-threatening inherited diseases. Cystic fibrosis is caused by a defective gene. As a result, the internal organs, especially the lungs and digestive system, become clogged with thick sticky mucus resulting in chronic infections and inflammation in the lungs and difficulty digesting food. Find out more about what CF is and how it affects the body.
Around 10,400 people in the UK have cystic fibrosis; that’s 1 in every 2,500 babies born. Cystic fibrosis affects around 100,000 people in the world.
Cystic fibrosis is a genetic condition. One person in 25 carries the faulty CF gene, usually without knowing; that’s over two million people in the UK. If two carriers have a baby, the child has a one-in-four chance of having cystic fibrosis.
No, cystic fibrosis can’t be caught or developed; it can only be caused by inheriting two copies of the faulty gene. You could be a gene carrier without having cystic fibrosis. Find out more about carrier testing in our factsheet (PDF).
Cystic fibrosis is also known as CF, mucovoidosis, or mucoviscidosis.
All newborn babies in the UK are now screened for cystic fibrosis shortly after birth using the heel-prick blood test. This tests for the most common mutations of the gene that causes cystic fibrosis.
Around one in 10 children with cystic fibrosis are diagnosed before, at, or shortly after birth, due to a condition called meconium ileus that causes the gut to become blocked with meconium – a thick, dark, sticky substance thatis made in all babies’ intestines before being born. Urgent surgery may be needed to relieve the blockage.
Some children born earlier than 2007 who were not screened at birth, or those with more unusual mutations of the cystic fibrosis gene, may be diagnosed later in life, after they have become unwell and developed symptoms. Find out more about late diagnosis (PDF).
In people with cystic fibrosis the lungs make thicker sputum (mucus) than normal, which can trap bacteria in the small airways and lead to infection. Symptoms that typically develop include persistent cough, wheezing, shortness of breath and breathing difficulties and repeated chest infections. Find out more about how the lungs are affected.
Thickened mucus secretions block the normal flow of digestive juices from the pancreas, which means food can not be digested or absorbed properly, in particular fatty foods and fat-soluble vitamins (vitamins A, D, E and K). This can cause malnutrition, leading to poor growth and poor weight gain, a bloated abdomen and tummy aches, constipation and prolonged diarrhoea. Find out more about how the digestive system is affected.
Other symptoms can include sinus infections and nasal polyps. Some adults with cystic fibrosis may also get cystic fibrosis-related diabetes (CFRD), arthritis, osteoporosis and liver problems. Explore some of these other complications in more detail.
Symptoms usually first develop within the first year of life, but in a minority of cases may not appear until later in childhood or beyond. The severity of symptoms can vary and not all people with cystic fibrosis will have every symptom.
Take a look at our interactive body for more information on the symptoms of cystic fibrosis.
There are over 2,000 identified mutations of the cystic fibrosis gene. Cystic fibrosis is a very complex condition that affects people in different ways. Some suffer more with their digestive system than the lungs. Others have no problem with their pancreas.
Yes, cystic fibrosis affects people of many ethnic backgrounds, although it is more common in the Caucasian population.
According to the most recent report from the UK Cystic Fibrosis Registry, based on people with CF who are recorded as alive 2013-2017, half of people born with cystic fibrosis in 2017 would live to at least 47. However, this figure does not necessarily account for significant advances in CF care, including new treatments that are being developed. For more information please visit our UK CF Registry Annual Data Reports page.
We also report the median age of death in each year. In 2017, the 132 people with CF who died had a median age of 31.
Day to day…
Cystic fibrosis affects everyone differently, but for many it involves a rigorous daily treatment regime including physiotherapy, oral, nebulised and occasionally intravenous antibiotics, and taking enzyme tablets with food. Some people with CF will have a feeding tube overnight. You can read more about each of these treatments in our factsheets.
For those who are very ill with cystic fibrosis and have very poor lung function, daily life can be a struggle as basic tasks can leave them breathless. Some patients use a wheelchair to get around and oxygen to help them breathe.
Children with cystic fibrosis should be encouraged to do things that their peers do, although there are a few things that should be avoided because they may harbour particular bugs which can cause problems for people with cystic fibrosis.
In most people with cystic fibrosis, the small channels that carry the digestive juices from the pancreas to the intestine become clogged with thick, sticky mucus. As a result, people with CF do not absorb and digest their food easily. This is called ‘pancreatic insufficiency’.
As well as taking enzyme pills to help digest food, most people with cystic fibrosis require 20% to 50% more calories each day than people without cystic fibrosis. Some may need considerably more. People with cystic fibrosis are encouraged to eat cakes, crisps, chocolate and other foods that are often considered ‘unhealthy’. It is important to maintain a healthy weight as it helps the body deal more effectively with chest infections or weight loss caused by illness. Find out more about nutrition and cystic fibrosis.
Fertility, or the ability to have children, is usually normal or only slightly reduced in women, but most men with cystic fibrosis are infertile. This is due to an abnormality/absence of the vas deferens (the tube which carries sperm from the testis to the penis). The tubes are effectively blocked or absent altogether. Although sperm is produced and sexual function remains entirely normal, men with CF can seldom father children naturally.
People with cystic fibrosis should not meet each other as they have different bacteria or ‘bugs’ that grow in their lungs. These ‘bugs’ are rarely harmful to those who do not have cystic fibrosis, but may be harmful to other people with the condition. We offer a forum for people with cystic fibrosis so they can interact safely. Find out more about cross-infection.
Treatment and transplants
People with cystic fibrosis often have to undergo a rigorous daily regime of treatments to stay healthy. This can include taking inhaled and injected drugs to clear mucus and fight infections, taking dozens of enzyme pills to digest food and having physiotherapy morning and night. People with cystic fibrosis may also need a transplant. Lung transplants are the most common type for people with cystic fibrosis, as usually these are the organs most affected by cystic fibrosis. However, some people will have problems with their liver, kidneys or pancreas, and may need these organs transplanted.
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On a much more mundate note, my bright yellow Team CF cycling top has arrived. If you see me flashing past you/crawling past very slowly (depending on where I am in my training schedule) on the National Cycle Route trails in the NW of England then give me a wave. More of that in later blogs.
Simon
Simon Egan 