Monday, July 30, 2012

Cystic Fibrosis Life Expectancy

Cystic fibrosis is a serious genetic disorder with reduced life expectancy. A common genetic disorder among Caucasian people, this disease occurs in one of every 3,200 Caucasian births. The mutation in the gene varies according to the geographical background. Cystic fibrosis occurs in one out of every 15,000 African-American births. The life expectancy of cystic fibrosis patients has been increasing over the past 40 years. In the 1980s life expectancy of people with cystic fibrosis was 14 years.

10 years back, the life expectancy of a person with cystic fibrosis was around 18 years. Today it is 35 years. The median life expectancy of a newborn with cystic fibrosis has increased from 4 years to 32 years. It has been estimated that there has been more than 10 year increase in the average life expectancy of affected people in North America. Over 90% of the affected infants now survive beyond one year. Studies show that life expectancy of children will exceed 40 years. Life expectancy of individuals with adequate pancreatic function can be more than 50 years.

In the United States, approximately 30,000 people have cystic fibrosis. Around 1,000 new cases of cystic fibrosis are diagnosed each year. One child of every 3,500 is born with cystic fibrosis. In Canada, the overall cystic fibrosis birth rate from 1971-1970 was stable. From 1988, cystic fibrosis birth rate increased to a rate of 1 in 3,608. Cystic fibrosis birth rate is stable for the last few years. In the UK, cystic fibrosis birth is about 1 in 2400 and 4% of the people are cystic fibrosis carriers.

80% of patients are diagnosed by the age of three. 10% of patients are diagnosed at the age of 18 and 3% patients are diagnosed in adulthood. Vast improvements in treatment have increased the life expectancy of cystic fibrosis patients.

Wednesday, July 4, 2012

Cystic Fibrosis Treatments

Cystic fibrosis, which affects 30,000 American children and adults, is a multisystem disease caused by a defective gene. Presently only symptomatic management is possible, but there are very promising gene-therapy trials under way.

In the respiratory system the thin mucus lining becomes thick and sticky. In cystic fibrosis management, the primary treatment of the system is to thin or clear this mucus. Bronco dilators like albuterol are used to clear the clogged airways. Mucus thinning drugs delivered by aerosol, like pulmozyme, are helpful. The most effective way of clearing this mucus is by mechanically dislodging it. Clapping on the chest and back, with the head tilted on the edge of a table, is quite effective. There is an electrical clapper that does the job safely. There is an electrical inflatable vest that vibrates and dislodges the mucus. Infection is an ever-present risk with cystic fibrosis patients. Regular shots for pneumonia and influenza are very important. Bacterial infection is fought with newer antibiotics like TOBY, which delivers the medicine directly into airways with aerosols.

Because of the blocked ducts of the pancreas and liver, the enzymes and bile do not reach the intestine. Though the patient eats normally or even in excess, the fats and proteins are not digested. So the cystic fibrosis patient needs to have the enzymes supplemented with oral pancreatic enzymes. There is also the need to take vitamins, especially the fat-soluble ones. If lung function is completely damaged, the only alternative would be lung transplantation. This would involve many factors, like the availability of a donor and the patient's present health, prior to undergoing major surgery.

The Cystic Fibrosis Foundation has 115 centers all over America, and provides guidelines and advice. They support many studies to find gene therapy to cure cystic fibrosis. The target is to add normal genes to the cells of the airways to prevent further damage. Biotech laboratories produce healthy genes, which need to be delivered to the appropriate cells. These vectors, or delivery systems, are the key areas of research to combat cystic fibrosis. One method that is actively pursued is to modify the common cold virus to carry the healthy genes into the correct cells. On another track, the DNA molecules are compacted to their minimum size and delivered directly to the relevant cells without the need for a carrier such as a virus. This technology is called PLAS min.

As this gene therapy experiments are at an advanced stage, the cystic fibrosis sufferers can hope for a permanent cure in the near future.