Cystic fibrosis


Cystic fibrosis (CF) is a hereditary or genetic disease that results in the buildup of thick mucus in the organs, which seriously harms the lungs, digestive system, and other body organs.

The cells that make mucus, sweating, and digestive fluids are affected by cystic fibrosis. Normally, these secreted fluids are slippery and thin. However, an abnormal gene in CF patients makes the secretions thick and sticky. The secretions clog up tubes, ducts, and passages rather of lubricating them, particularly in the pancreas and lungs.

Mucus obstructs the pancreatic ducts, which makes it difficult to digest food. It’s possible that CF prevents babies and young children from absorbing enough nutrients from food. CF is a chronic and progressive condition. Liver, lungs, intestines, and sex organs are also affected by CF.

Although cystic fibrosis is a progressive condition requiring daily care, the majority of CF patients can still attend school and hold down jobs. Their quality of life often surpasses that of CF patients from earlier decades, thanks to remarkable advancements in screening and therapy. Today, individuals with CF can anticipate living well into their mid to late 30s or even their late 40s, with some even reaching their 50s, all due to these medical breakthroughs.


The signs and symptoms of cystic fibrosis are influenced by the disease’s severity. These symptoms can vary in intensity and may even change within the same individual over time. Some individuals may only exhibit symptoms during adolescence or adulthood. Those who are diagnosed later in life often have milder forms of the disease and are more likely to experience atypical symptoms such as infertility, recurrent pneumonia, and pancreatic inflammation (pancreatitis).

The newborn screening allows for the diagnosis of cystic fibrosis within the first month of life, before any symptoms appear. However, those who were born prior to the availability of newborn screening may not receive a diagnosis until the signs and symptoms of CF manifest.

The digestive tract and respiratory system are most frequently affected by the CF signs and symptoms.

  • Respiratory signs and symptoms: The tubes that carry air into and out of the lung get clogged with the thick, sticky mucus related to cystic fibrosis. Signs and symptoms of this include:
    • Persistent cough with thick mucus (sputum).
    • Recurrent wheezing.
    • Intolerance to exercise.
    • Recurrent sinusitis or lung infections.
    • Inflamed nasal passages or a stuffy nose.
  • Digestive signs and symptoms: The digestive enzymes that are sent from the pancreas to the small intestine can become obstructed by the thick mucus. The intestinal tract can’t fully absorb the nutrients in the food that has been eaten without these digestive enzymes. This results into the following:
    • Loose, foul-smelling, greasy stools.
    • Poor weight gain and slow growth.
    • Meconium ileus, which is an intestinal obstruction, especially in newborns.
    • Chronic or severe constipation, which may result in frequent straining while attempting to pass feces and finally lead to rectal prolapse (when portion of the rectum protrudes outside the anus).

If you or a family member are displaying symptoms associated with cystic fibrosis or if there’s a history of the condition in your family, it’s advisable to have a conversation with your healthcare provider about undergoing testing for the disease.

Patients with cystic fibrosis should aim to schedule healthcare provider appointments every three months. However, if a patient notices any new or worsening symptoms, such as increased mucus production, alterations in mucus color, fatigue, unexplained weight loss, or severe constipation, it is essential to promptly reach out and consult their healthcare provider.

Anyone who is coughing up blood, experiencing significant stomach discomfort and distention, having trouble breathing, or experiencing chest pain should get an immediate medical attention.


The cystic fibrosis transmembrane conductance regulator (CFTR) gene, which has a mutation, alters a protein that controls the flow of salt into and out of cells. The end result is increased sweat salt content as well as thick, clingy mucus in the reproductive, digestive, and respiratory systems.

Gene defects can manifest in various forms, and the severity of the condition is closely linked to the specific gene mutation involved. In the case of cystic fibrosis, for a child to inherit the condition, they must inherit one copy of the mutated gene from each parent. Children will not develop cystic fibrosis if they inherit only one copy of the gene, but they will be carriers, which means they could potentially pass the gene on to their own offspring in the future.

Risk factors

A significant risk factor for cystic fibrosis is a family’s medical history, as this condition is hereditary and often runs in families. Although cystic fibrosis can impact individuals from diverse ethnic backgrounds, it is most commonly observed in individuals of Northern European descent, particularly those of white ethnicity.