What is Cystic Fibrosis?

Overview

What is cystic fibrosis?

Cystic fibrosis, or CF for short, is an autosomal recessive genetic disorder, meaning you inherit it from your parents and have it from birth. This disease primarily causes issues with the respiratory and digestive systems, although it can impact the whole body. It is caused by a mutation (abnormality or defect) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

These mutations cause the CFTR protein to become dysfunctional, and therefore cannot help move chloride – a component of salt – to the cell surface. Without chloride, water does not make its way to the cell surface which in turn causes the mucus throughout the body to become thick and sticky.

Cystic Fibrosis Symptoms

How does CF affect the body?

The most common symptoms with CF are salty skin, persistent coughs, frequent lung infections, poor weight gain, greasy stools and constipation. Even though these are the most common, every CF case is different and so that individual’s care has to be different.

Watch this video from the Cystic Fibrosis Foundation as CF clinicians explain which body parts are affected, common symptoms, and how this disease is treated.

Cystic Fibrosis Care & Treatment Plans

What does it look like managing CF?

Managing CF is a daily routine and with each case being different, the care plan for each individual is different. Those living with the disease and their families know how their bodies are affected and work closely with their clinical care teams to put together the best treatment plan for them.

Learn More About Olivia's Treatment Plan

Treatment plans can be a combination of these therapies:

Airway Clearance

Inhaled Medicines

Pancreatic Enzyme Replacement Therapy (PERT)

Fitness Plan

CFTR Modulators

Genetics & Testing Cystic Fibrosis

What role does genetics play in cystic fibrosis?

Being that CF is an autosomal recessive genetic disease, the child must inherit one copy of the mutated CFTR gene from each parent. If the child only inherits the mutation from one parent, that child is considered a carrier and will not have the disease.

Each child born from two carrier parents has a 50% chance of being a carrier, 25% chance of having CF and another 25% chance of not being a carrier / not having the disease.

There are over 1,700 known mutations of the disease and most of the genetic tests only screen for the 60 most common ones. Because of this there are multiple steps to get an official diagnosis. First, most states in the US have included CF testing in the newborn screens. Next, a sweat chloride test is completed. This test measures the amount of sodium chloride release in an individual’s sweat. And lastly blood work is collected to analyze the full mark up of a person’s DNA.

These evaluations should be completed at a CF Foundation-accredited care center. Most people with CF were diagnosed by the age of 2 but there are some that do not get diagnosed until later in life as an adult.

Overview