What is Cystic Fibrosis
Cystic Fibrosis is Ireland’s most common life-threatening genetically inherited disease.
CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).
Approximately 35-40 children (one in 1,461) are born in the Republic of Ireland each year with CF. This prevalence is higher than in other European countries (one in 3,500) including Northern Ireland (one in 1850) and England (one in 2,500).
With 1100+ CF Patients, Ireland has the highest proportion of CF people in the world. The prevalence rate of people with Cystic Fibrosis (PWCF) by county of residence is the second highest in Cavan with a rate of 0.36/1000 as against 0.38/1000 rate for Tipperary which is the highest.
Approximately 1 in 19 people are carriers of the CF gene and where two carriers parent a child together, there is a 1 in 4 chance of the baby being born with Cystic Fibrosis.
CF is an inherited chronic disorder of the exocrine glands that the lungs and the digestion of food leading to frequent infections and under-nutrition. CF affects the glands, damaging many organs including the lungs, the pancreas, the digestive tract and the reproductive system. The result is that people with CF are prone to constant chest infections and malnutrition. Difficulty in breathing is the most common symptom.
Thirty or forty years ago, a baby born with Cystic Fibrosis was only likely to live for a few months, but now with the advances in research and in the treatment and management of the disease the majority of PWCF survive well into adulthood. It is estimated that the number of adult PWCF exceeds the number of children PWCF.
The symptoms of Cystic Fibrosis appear in the majority of patients in the first year, but they may appear later in their teens or even in adulthood. The presentation depends in part on the specific mutation(s) present and the most common (F508) is nearly always associated with pancreatic insufficiency and early presentation. Cystic Fibrosis (CF) is a multi organ disease and as the age of survival has increased so has the incidence of late complications formerly thought to be uncommon, such as diabetes or serious liver disease.
It is impossible to predict the outcome of a person with CF even when the precise mutation is known. Some patients despite early diagnosis and treatment experience rapid progression of lung disease, while others will have a much more favourable course and reach adulthood. Other factors are important perhaps decisive in determining the prognosis…they include treatment, nutrition, lifestyle and compliance, and chance events such as exposure to specific viral, bacterial and fungal infections.
Cystic Fibrosis may present in the newborn child with intestinal obstruction (Meconium Ileus). Abnormal x-rays show a characteristic ‘bubbly appearance with distended bowel loops’.
Every newborn who presents with meconium ileus (bowel obstruction) should have a sweat test and be considered to have Cystic Fibrosis until proven otherwise. Prolonged jaundice in the newborn child may also be an isolated first sign and it is present in 50% of the cases of meconium ileus.
The First Year
The typical infant with CF has a repetitive cough, dry bulky offensive motions, and fails to thrive, but in some cases either respiratory or gastrointestinal symptoms may occur. The classic picture is an infant who fails to thrive, with frequent, pale, bulky, foul smelling and sometimes oily stools, containing foodstuffs, which float in water and are difficult to flush away. There is a poor growth pattern despite a normal or even a huge appetite.
Things to look out for in the first year to detect Cystic Fibrosis
• Chronic or recurrent respiratory symptoms such as a cough or wheeze
• Recurrent or chronic pneumonia
• Failure to thrive
• Malformed, bulky, offensive stools with an oily appearance
• Chronic Diarrhoea
• Rectal Prolapse
• Prolonged Jaundice
• Salty taste
• Heat prostration or dehydration in hot weather
• Family History of deaths in infancy, or living children with similar features
The Pre-School Age Child
Although most CF children will show symptoms in their first year, some will show symptoms later in the pre-school age. Delay, however, not only postpones treatment for the child but also deprives the family of time to come to terms with this chronic disorder. A few children however may show more obvious symptoms at this stage, such as malnutrition, progressive changes in the stool appearance and rectal prolapsed. Rectal prolapse is not an uncommon form of presentation and it should raise serious suspicion as to the diagnosis of CF.
How to recognise CF in the Pre-School Age Child
• Persistent cough with or without sputum
• Unexplained chronic or recurrent wheezing
• Slow weight and height gain
• Rectal Prolapsed
• Chronic Diarrhoea
• Clubbing of the fingers
• Salt crystal formation on the skin
• Hypotonic dehydration
• Unexplained Liver Disease
In the School Age Child
By this time very few children should have escaped diagnosis. Those who have may have a mild mutation and pancreatic sufficiency. These children are very likely to show signs of malnutrition, they may have abnormal stools, with continuous respiratory symptoms. Any child with ‘asthma’ associated with suggestive x-ray changes and evidence of infection should have a sweat test. CF occasionally shows at this stage with a severe respiratory infection which may resemble bronchopneumonia and which heralds the onset of the respiratory symptoms.
Recurrent colicky abdominal pain may be among the first symptoms and may start at this age group. A palpable mass can be found in the right lower quadrant of the abdomen and it can be tender.
Abdominal distention, vomiting and constipation may follow. Fluid levels may be shown on plain x-ray, faecal masses mixed with tenacious mucus, collect in lumps within the intestinal lumen, and are the cause of the pain and obstruction. This condition is called Meconium Ileus Equivalent (MIE). Abdominal pain can more rarely be secondary to recurrent attacks of pancreatitis. In this age group other signs and symptoms may become prevalent.
When to recognise CF in the School Age Child
• Chronic unexplained respiratory symptoms
• Pseudomonas Aeruginosa in the sputum
• Chronic Sinusitis
• Nasal Polyposis (nasal blisters)
• Finger Clubbing
• Chronic Diarrhoea
• Intestinal obstruction/Pancreatitis
• Rectal Prolapse
• Diabetes mellitus with respiratory symptoms
• Unexplained liver disease
In Adolescence and Adult Life
It is rare for CF to present in adolescence or adulthood without any previous symptoms, but this may eventually happen and these patients may show the less common characteristics.
When to think of CF in Adolescence and Adult Life
• Chronic and unexplained suppurative pulmonary disease
• Distal Intestinal Obstruction Syndrome (DIOS or MIE)
• Diabetes Mellitus with respiratory symptoms
• Signs of Liver Cirrhosis and Portal Hypertension
• Growth Retardation
• Delay in Sexual Development
• Male Sterility
• Reduced Fertility in Females
It is important to remember that the signs and symptoms in the above four tables show the approximate age groups in which they often appear. However, any item (symptom or sign) from a table may be delayed or appear prematurely for a specific patient for instance, finger clubbing may appear can appear in the first year of life and liver disease can also already be present in the first year of life.
If you or your child has Cystic Fibrosis then you will be no doubt on a range of treatment already, e.g. nebulisers, maintenance medication etc. At every stage there is a range of antibiotics to treat the PWCF and doctor/consultant at the specialist centres will prescribe the appropriate medication to manage recovery.
Improved survival rates depend upon a lifelong programme of a) preventing lung injury (with physiotherapy, oral, nebulised and intravenous specialist antibiotics, anti-inflammatory and other medications, and effective infection control measures) and b) optimising nutrition
There comes a time in a child with Cystic Fibrosis life when he/she has to change from attending a children’s hospital to attending an adult hospital. The same question is always raised…’at what age should they change over?’
Depending on the parents’ consent and the Doctor’s approval the child can decide when they want to change. In Tallaght Hospital there is a new Adolescence Centre being developed so the child will be given the option to attend there for one year if they do not want to attend an Adult hospital immediately. Some may decide to change over at the age of 16 when they are classed as a CF adult.
Transplantation is an important element of CF care and the branch encourages organ donor awareness and the necessity of carrying donor cards. Furthermore it recognises the necessity to maximise all organ procurement and utilisation opportunities to save and enhance lives.
The branch welcomes the national neonatal screening programme that is soon to be established.
The publication section of the home CFAI site is a valuable source of essential information on a variety of subjects including travel insurance, guide to third level for PWCF, infection control, entitlements for people with disabilities etc.