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Cystic fibrosis is the most common fatal and inherited disease in Caucasian populations, caused by the acquisition of two recessive genes from carriers who are typically not affected themselves. The abnormality affects the so-called exocrine glands and the most obvious and troublesome feature is the development of chronic infections of the respiratory tract. Many organ systems are affected by the glandular abnormalities but it is the eventual failure of the respiratory system which is the most common cause of death.

The genetic abnormality affects the thickness of the body’s mucus, making it stickier which in turn makes it more vulnerable to bacterial infection. Thickened secretions can be present in the respiratory tract which makes them difficult to clear, but they are also present in the pancreas, sweat glands and the digestive tract. Initially the lungs are normal but soon after birth an infection develops at some time and the cycle of infection and inflammation is set up along with a continual presence of specific bacteria in the lungs. Gradually the lung membranes become thickened and less efficient, leading eventually to respiratory failure.

The gastrointestinal tract can be obstructed or otherwise negatively affected by thicker mucus and this reduces the efficiency of absorption of nutrients from the food, often an early sign of problems as a baby fails to thrive, i.e. does not grow as expected. Obstruction from adhesions can occur and surgical removal of part of the gut be needed, further limiting absorption of nutrients. Reduced efficiency of the pancreatic enzymes occurs and if insufficiency of the pancreas develops then fat soluble vitamins such as K, E, D and A are poorly absorbed.

In terms of frequency cystic fibrosis is the most commonly occurring inherited condition which has a fatal outcome, inherited as a recessive gene trait. Typical incidence in white European populations is one in 3200 while Asian populations may only see one in 90,000 children born. Typical survival age for adults is around 37 years, with males living on average significantly longer than females. The lung changes progress from bronchitis to bronchiectasis and then to end stage lung disease with heart failure. The way the disease progresses, how old the person is at the diagnosis, how severe the symptoms are and how fast the disease progresses are all very variable.

Gallbladder inflammatory changes and the presence of gallstones have a higher incidence in patients with cystic fibrosis. Secondary sexual characteristics and the onset of puberty are typically delayed and males are infertile due to absence of a vas deferens, while female patients may have reduced fertility to some degree. Progression of lung disease is worse in patients who come from the lower socioeconomic levels. Overall the severity of lung symptoms is less in male patients than in female patients, with females suffering worse lung prognosis and a lower life expectancy.

Due to the complexity of cystic fibrosis and the involvement of many bodily systems the most effective diagnosis and management of this condition is performed by a multidisciplinary team in a specialist centre. Apart from the initial diagnosis and baseline measurements, followed by the plan of treatment, there are many other parts to the overall management. Education of the patient or the parents is of vital importance as adherence to the treatment regime is so important if the patient is to make the best of their remaining life. Counselling may be employed as patients face the difficulties of managing a lifelong condition. Physiotherapy instruction for airway clearance technique is also vital, with instruction on how to use inhalers and nebulisers.

Management of the complications of respiratory disease may require surgery to treat problems such persistent blood in sputum and lung collapse. Obstruction and other conditions of the gastrointestinal system may also require surgical management. The management of lung disease in the end stages may include transplant, either heart-lung transplant or lung transplant, which may improve the quality of life but not increase life expectancy. Patients can take a normal diet but need to add increased fat and energy content and increased mineral and vitamin intake. Poor absorption of nutrients and chronic inflammation increases the demand for nutrients and along with the possible limitation of a child’s growth or a delay in puberty this necessitates nutritional supplements.

Jonathan Blood Smyth, editor of the Physiotherapy Site, writes articles about Physiotherapy, back pain, orthopedic conditions, neck pain, injury management and Local Bristol Physiotherapists. Jonathan is a superintendent physiotherapist at an NHS hospital in the South-West of the UK. Article Source: http://EzineArticles.com/?expert=Jonathan_Blood-Smyth

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