Cystic fibrosis : symptoms, causes, diagnosis, prevention, treatment

Last Updated on December 15, 2022 by Dr. Saqib Mueed

What is Cystic fibrosis?

Cystic fibrosis is a genetic disease that can be transferred from parents to their offspring it affects different parts of the body like the lungs and digestive system along with other organs of the body.

Mucous, sweat, and digestive juice-producing cells are affected by cystic fibrosis. These secretions are naturally vicious, but these secretions become thick and sticky due to cystic fibrosis. Lubricants block the trachea, tubes, lungs, and pancreas. Daily care is needed for a person suffering from cystic fibrosis but the affected person can attend his classes and office work.

Cystic fibrosis makes the fluid in the body concentrated. This concentrated glue-like material accumulates in the body and is a cause behind different problems in the different organs of the body. Improper digestion and infection are caused by cystic fibrosis. Most of the cases are cured at a young age but some unnoticed cases are also observed in aged persons.

Today treatment methods are much improved compared to previous decades. So, the affected person can live much-improved life as compared to previous decades. An affected person can live 50 to 55 years. ^[1]Cystic Fibrosis (cdc.gov)

Symptoms

There are different signs and symptoms of cystic fibrosis. some of them are given below.

• Weak respiratory system is affected
• Weak digestion System
• Pancreas is inflamed
• Inffertility
• Pneumonia

In some cases, symptoms are not visible until adulthood. Symptoms differ indifferent person. Seven cystic fibrosis have very dangerous Symptoms and they decrease the life span of the affected patient.

If parents of affected children taste their sweat it will be salty.

Respiratory signs of Cystic fibrosis

• The thick fluid blocks the air passageway
• Person can not exercise continually
• Coughing
• This mucus can also come out from the mouth and nose.
• Lungs are infected
• Sinus
• Nasal passages are also inflamed

Digestive Signs Cystic fibrosis

• Digestive enzymes are blocked by thick mucus thus affecting the digestive system.
• Mouth smells badly
• Optimum weight is not achieved
• In newborns, Intestines are also blocked
• Constipation
• Rectum is also damaged by cystic fibrosis ^[2]https://www.csp.org.uk/system/files/cystic_fibrosis.pdf

Causes

There are following causes of cystic fibrosis

• A defective gene CFTR alters the protein and changes it’s function. This protein is responsible for the movement of salts in and out of the body. Thus the fluid become sticky and thick.
• Some other defects in gene can also change its function.
• If a children receive only one copy of a gene from each of his parents then there will be severe consequences, but if he receives only one copy then he will be fine then again he will be a carrier and transfer the gene to next generation. ^[3]Cystic Fibrosis (CF): Symptoms, Causes, Diagnosis, Treatment (webmd.com)

Diagnosis

Sweat test

Amount of chloride in the sweat is measured. If the level of chloride is high then the person is affected from the CF.

Genetic test

Genetic test is done by testing the cells taken from the check or blood. This test is used to find the gene responsible for the CF. ^[4]Clinical Care Guide for Diagnosis of CF (cff.org)

Prevention

Nearly same combination of two persons of cystic fibrosis ,before their marriage they have to check their genetic makeup. The laboratory test of blood find the chances of cystic fibrosis in their childrens.

During pregnancy, if you know that your child have chances of cystic fibrosis you conduct extra tests of your child.

Treatment

There are many treatments which are used to decrease the cystic fibrosis.

Medicines

Antibodies

Antibodies are the medicines which have resistance against, the antigen that enters your body. Some antibodies are used for the treatment of cystic fibrosis these are in the form of fluids, tablets, and capsules.

Mucus thinning medicines

These are the medicines that are used to destroy mucus in the throat. These out the mucus from the lungs and lungs function can be improved.

Bronchodilator

These are the medicines that maintain the tubes, muscles and increase the flow of air in the lungs these are used by using inhalers.

Surgical Procedures

• Bowel Surgery is used suddenly and this is used to remove the bowel.
• Feeding wall.
• Cystic fibrosis affects the process of digestion. This wall is used to pass food by a nose.
• Double lung transplant
• The person which has cystic fibrosis does not do proper function with their lungs. So double lung transplants are used to maintain their life.

Transplant Benefits

• By doing transplantation one can extend his life by many years.
• But the chances of infection are always there and medication is used to prevent the infections.

Chest physical therapy

• Chest therapy makes it easier to breathe.
• Chest therapy is performed up to 4 times a day. ^[5]https://ep.bmj.com/content/edpract/90/1/ep1.full.pdf ^[6]https://rc.rcjournal.com/content/respcare/54/5/595.full.pdf

Home Care for Cystic fibrosis

• Different fluids are needed to be drunk at regular intervals to thin the mucus.
• Exercise daily.
• Smoke, mold, pollen, and pollution should be avoided.
• You should be vaccinated against influenza and pneumonia diseases. ^[7]Home care in cystic fibrosis patients | European Respiratory Society (ersjournals.com)

When a visit to the doctor is advised

• Patient affected by cystic fibrosis requires consistent care and treatment. Complete tests should be done after every three months.
• If you observe that your symptoms and signs are worsening, like the amount of mucus is ballooned then immediately see your doctor.
• If you are loosing weight more than usual and are not able to do any kind of work due to lack of energy then please visit your doctor.
• If blood comes out during coughing then immediate medical care is required and it is advised to see your doctor.

Conclusion

Cystic fibrosis is a genetic disease that is transferred from parents to offspring. It has different causes and symptoms. It reduces the life expectancy of the affected person. There are different methods available to treat it. Home care is also advised. Cystic fibrosis is usually cured at a young age.

Reviewed by:

Dr. Akhtar Nawaz Lak

MBBS, FCPS (Internal Medicine)

Ex. Medical Specialist, Services hospital, Lahore

Ex. Medical Specialist, Allied hospital, Faisalabad

Our reviewers’ details, Click Here