​Cystic Fibrosis

Cystic fibrosis is a genetic disease that affects the pancreas, liver, kidney, intestine and most commonly, the lungs. It affects fluids such as sweat, digestive juices and mucus. In a healthy person, these fluids are thinner and of a slippery texture. However, in a person suffering from cystic fibrosis, these fluids tend to become thick and end up blocking the pathways where the fluid flows from. If you are suffering from cystic fibrosis, there is a mutated gene present in your body that causes mucus to build up in your internal organs.

This mucus, when present in the lungs, causes lung infections and respiratory failure (failure to breathe). When present in the pancreas, your body fails to secrete the right enzymes necessary for digestion and absorb the vital nutrients. 

People with cystic fibrosis inherit two copies of the defective gene that cause it, that is, one from each parent. If you have only one copy of the mutated gene, you are considered a carrier of the disease, but you do not have the disease. If two cystic fibrosis carriers have a child, there is 25% chance that the child will have the disease, 50% chance that the child will also be a carrier but not have the disease, and 25% chance that the child will neither be a carrier, nor have the disease.​​

At times, adults face different symptoms than children, such as pancreatitis, diabetes and male infertility. The symptoms of the disease may vary, depending on the severity of the disease you are suffering from. Some people may not experience any of the usual symptoms until adolescence or adulthood, whereas others may be facing them since birth.

The major symptoms include:

  • Having very salty skin because of higher than normal salt content in your sweat

  • Persistent coughing

  • Shortness of breath

  • Recurrent lung infections (such as pneumonia or bronchitis)

  • Stuffy nose

  • Coughing up blood

  • Inability to gain weight

  • Constipation and difficulty with bowel movements​

If you or your child is experiencing any of the symptoms mentioned above, arrange an appointment with your physician early. The Heart, Lungs and Vascular Service Line at The Aga Khan University Hospital offer quality health care and a range of treatment options.​

Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.​

The medically accredited staff working with the Heart, Lungs and Vascular Service Line at The Aga Khan University Hospital houses a number of tests that can help diagnose cystic fibrosis. Babies, amongst whom the probability of inheriting cystic fibrosis is high, are tested at birth for cystic fibrosis. This is done with a blood test to check the level of IRT (Immunoreactive Trypsinogen) in the blood. If the level of IRT is abnormally high, it may indicate a problem in the pancreas or lungs.

In order to confirm the diagnosis of cystic fibrosis, you may undertake the following tests available at the Hospital:

  • Sweat Test: in this procedure a sweat enhancing chemical will be applied to a small area of your skin. The resultant sweat will then be tested for salt content. A higher than normal level of salt in the sweat is an indicator of cystic fibrosis. 

  • Genetic Testing: a DNA sample from your blood will be tested for genetic defects that cause cystic fibrosis.​​

There is no cure for cystic fibrosis. However, the medical specialists at The Aga Khan University Hospital can help you manage the symptoms of the disease in a number of ways. 

You can take medications that are available to treat cystic fibrosis such as antibiotics for treatment and prevention of lung infections. Alternatively you may be prescribed medications that reduce the thickness of mucus and/or enzymes to help digestion. Furthermore you may be given bronchodilators that will help the airways relax and improve your respiratory function. 

Chest physiotherapy is an important component of management. This can help in reducing the thickness of the mucus in the lungs and make it easier to cough it up. Mechanical devices such as a vibrating vest, or a tube or mask to breathe into can be worn to help loosen the mucus as well. 

If the doctor advises, you can also seek the available surgical options including:

  • Bowel surgery, to improve digestion

  • Lung transplant, for severe breathing problems

  • A feeding tube which will be inserted into the nasal passage or into the abdomen to help your body absorb the right nutrients 

  • Removal of nasal obstructions that hinder breathing

Your doctor may recommend long term treatment options such as exercise, proper nutrition, oxygen therapy to improve oxygen levels in the blood and breathing therapy to facilitate a healthy lifestyle.​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.​

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.​

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.