No Longer a Death Sentence

Cystic fibrosis affects the lungs and immune and digestive systems, and is one of the most common incurable hereditary life- threatening diseases in the UK, with 8,000 sufferers.

Advances in treatment mean life expectancy has increased from under ten years in the Sixties, to 40 to 50 years for babies born this year, says Dr Jim Littlewood, chairman of the Cystic Fibrosis Trust.

WHAT CAUSES IT?

A mutation in a gene which produces a protein known as the cystic fibrosis transmembrane conductance regulator (CFTR), responsible for the salt and water salt and water balance in mucus. Mucus is fluid secreted by the mucous membranes, including sweat glands, respiratory passages, pancreas, stomach and intestines.

WHAT ARE THE SYMPTOMS?

CF causes the body to produce copious thick mucus. In early stages, if treatment is not started, a persistent ‘rattling’ cough and frequent chest infections are common. Allergic reactions can worsen breathing problems.

The disease also causes the pancreas, responsible for providing digestive juices which help break down food, to produce thickened mucus.

These thick secretions cause irreversible damage to the pancreas, a difficulty in absorbing nutrients in the stomach and ultimately malnutrition. In older patients damage to the pancreas will lead to diabetes.

Many may experience heartburn and bowel problems. In some, thickened secretions can also lead to liver failure.

‘The combination of these increasingly worsening symptoms is what leads to an early death for many CF sufferers,’ explains Dr Littlewood.

HOW IS IT TREATED?

Because CF affects many organs, treatment is handled in centres staffed by specialist doctors and nurses.

Medication – inhaled and intravenous drugs – helps clear mucus and fight infection.

Drugs in capsules contain digestive enzymes to aid food absorption. Physiotherapy helps clear the lungs of mucus.

‘The real hope is treatment of the basic genetic defect that causes CF,’ says Dr Littlewood.

‘Clinical trials for gene therapy – in which a normal copy of the CFTR gene is placed into affected cells – are beginning this year in the UK.’

(c) 2008 Mail on Sunday; London (UK). Provided by ProQuest Information and Learning. All rights Reserved.