Cystic Fibrosis: Symptoms, Causes, Risks, Complications, Diagnosis, Treatment, Prevention and Outlook

Cystic Fibrosis


Cystic fibrosis is a progressive, genetic disorder that has an effect on the cells that produce mucus, which acts as a lubricant for organs to function properly. This causes the creation of thick mucus, which can be damaging to the body’s organs. Patients with this disorder are at high risk of developing infections in the vital organs including the lungs, liver, pancreas, among others, resulting in the development of problems in the bodily systems. This is because the thick mucus can cause ducts, tubes, and passageways to become clogged.

Many people with cystic fibrosis are sufferers of digestive and respiratory problems. The buildup of thick mucus can clog the ducts of the pancreas as well, resulting in the organ to fulfill its role including in the production of insulin and in the production of enzymes. Insulin is needed to control the sugar levels in the bloodstream, while the enzymes are highly involved in the digestion and absorption of food.

Since cystic fibrosis cannot be cured or prevented, parents would have to be attentive when it comes to the mental health of their children who have this disorder to prevent complications including anxiety or depression. Many children with cystic fibrosis were able to grow up to become productive adults. Parents need to support their children, especially when they need to immediate treatment for their recurring symptoms, such as constipation and cough, as well as to figure out a way to prevent severe infections.


Some of the symptoms commonly observed among patients with this disorder include:

  • Meconium ileus (at an early age)
  • Wheezing
  • Nasal congestion
  • Mucus in the lungs
  • Recurring lung infections
  • Stuffy nose
  • Chronic cough
  • Breathlessness or difficulty breathing
  • Intolerance in exercising
  • Belly pain
  • Bloating
  • Severe constipation
  • Inflamed pancreas
  • Greasy and foul-smelling stools
  • Nausea
  • Underdevelopment of growth
  • Poor weight
  • Salty skin
  • Poor appetite
  • Fatigue
  • Infertility
  • Clubbed fingers
  • Joint pain



The cause of cystic fibrosis is the mutation in the CFTR gene, which is responsible for providing a channel that carries chloride ions in and out of the cells. The chloride ions are involved in controlling the water in cell tissues and are necessary for the creation of free-flowing, thin mucus. Therefore, this disorder can only be passed on through genetics, but this is passed in an autosomal recessive pattern. This means a person with cystic fibrosis often have both parents carry one copy of the mutated gene. However, they don’t experience the symptoms of the disease.

4Risk Factors


Cystic fibrosis is caused mainly by the passing of two mutated genes by parents. The origin or race of the patient may also add up to their chances of having this disease, as white people in some European races have a higher tendency to carry this mutated gene than the rest of the people in the world.


Cases will differ according to the health and lifestyle of a patient. They may develop other illnesses as a result of their habits, such as whether they are smokers, are often exposed to dust, or are frequently taking medication.

Complications that may be experienced by patients may include:

  • Coughing up blood
  • Formation of gall stones
  • Rectal prolapse
  • Osteoporosis or osteogenesis imperfecta (brittle bones)
  • Arthritis
  • Pneumonia
  • Cor pulmonale (enlargement of right side of heart)
  • Liver failure
  • Lung failure
  • Pancreatitis
  • Kidney failure (due to drugs were taken)
  • Nephrotoxicity (due to drugs were taken)
  • Hearing problems
  • Sinusitis
  • Abnormally high-level of salt in the skin
  • Late puberty
  • Prolonged obstructive jaundice
  • Gastroesophageal reflux disease
  • Allergic bronchopulmonary aspergillosis
  • Acid reflux
  • Hypertrophic pulmonary osteoarthropathy
  • Metabolic alkalosis
  • Intussusception
  • Depression

As a result of a weak digestive system, patients could eventually suffer from malnutrition and weight loss. As a result of a shortage of insulin in the body, they are at risk of developing a type of diabetes called cystic fibrosis-related diabetes mellitus (CFRDM).

Patients, especially adult ones, have a high chance of experiencing problems in their reproductive system. Men are often diagnosed with having a congenital bilateral absence of the vas deferens (CBAVD). This is because their vas deferens (the tubes that deliver sperm) is blocked by mucus, resulting in their sterility. Women, likewise, are likely having problems in their pregnancy.


Early diagnosis will help a patient with cystic fibrosis greatly as the gravity of the disease will depend on how much the patient is receiving special care from health professionals and how well the treatments are working for them. Some of the tests the patient may have to undergo include:

  • Blood Tests – These can be done to determine the presence of the mutated gene.
  • Sweat chloride test – It can determine the salt level of a person’s sweat. This can be used to diagnose the disease, as one of its symptoms is salty-tasting skin.
  • Secretin stimulation test
  • Assessment of pancreatic function
  • Assessment of lung function
  • Chest X-ray
  • Stool exams
  • Sputum culture
  • Sinus X-ray
  • Upper GI and small bowel series
  • Immunoreactive trypsinogen (IRT) test – It is one of the tests conducted as part of newborn screening.
  • Genetic tests – These may find out whether a person has the mutated gene. There is a test that enables a genetics counselor to examine the blood or saliva of a person and detect the mutated gene.


Cystic fibrosis can affect not just the respiratory and digestive systems but also the reproductive system. In the past, this disorder was considered as fatal. Nowadays, with the advancement of technology brought about by many kinds of research, cystic fibrosis is now considered as treatable, and many patients diagnosed with the condition were able to live as normally as any ordinary person.

The treatments provided to patients with cystic fibrosis may include:

Antibiotics and medication

This help prevents the onset or the worsening of an infection of vital organs, especially the lungs and sinuses. Patients with cystic fibrosis are considered as high risk in terms of a recurring cough and infections and so preventing or curing cough immediately is vital to avoid complications. Some patients may prefer to take inhaled medicines to open their airways or to take medication to reduce the inflammation of their vital organs.


Most patients with cystic fibrosis are recommended to get themselves vaccinated against the flu, pneumococcal disease (PPV vaccine), among other respiratory diseases.

Oxygen therapy

This may be needed by patients who suffer from lung diseases.

Chest physiotherapy

High-protein diet

Patients may be advised to follow a high-protein diet to improve the development of their muscles.


Patients with cystic fibrosis may be advised to drink more water, especially during hot weather.

Extra fiber

They may be asked to take more fiber in order to lessen their chances of experiencing constipation.


(vitamins A, D, E, K)

Change of lifestyle

Patients will need to be vigilant when it comes to their lifestyle. They may be monitored in terms of their water intake, whether they are exposed to dust, fumes, and other harmful particles, and if they are exercising regularly. They also have to make it a habit of washing their hands, as microbes, bacteria, and viruses are often passed through the hands. They need to stay away from these in order to prevent infection.

 Fertility treatment

Patients who wish to have their fertility examined or cured may reach out to a clinic specializing in fertility to help them.


Patients suffering from severe cases of infection or clogged ducts in their organs may need to undergo surgery to drain the fluids, to remove nasal polyps, or to remove bowel obstruction among other problems.


Patients whose lungs have started losing their function may be given the option to have a transplant.


Since this disorder can only be caused by the presence of a mutated gene, this cannot be prevented by those who have it. Sufferers of this disorder can only slow down or prevent the symptoms from worsening. They will need to lead a healthy lifestyle, and be attentive when it comes to being exposed to particles, microbes, bacteria, dust, smoke, and the like. In a case of having a cough, they need to seek for cure immediately to prevent it from infecting the lungs. In case they are suffering from constipation, they may need to drink more water and to take more fiber.


The life expectancy of a person with cystic fibrosis is short due to the tendency of the organs, especially the lungs, to eventually fail to function. At the moment, the average age an adult with cystic fibrosis can reach is around the age of 37. Children with this disorder are able to function normally in school and everyday life despite the symptoms. Most of them are able to finish school and become productive people.