The Process of Diagnosing Cystic Fibrosis

Cystic fibrosis is an involved condition that can impact many aspects of one’s life. You or your loved one needs to get the appropriate diagnosis as early as possible. Sweat tests and gene tests are the gold standards for diagnosing cystic fibrosis. But they’re not without fault. Sometimes these two measures alone aren’t enough to get an accurate diagnosis. When this happens, healthcare providers take additional steps to diagnose you or your loved one with cystic fibrosis. They may consider one or all of the following when diagnosing your cystic fibrosis. 

Sweat Tests

First up are sweat tests. Sweat tests are the standard when it comes to diagnosing cystic fibrosis. They help healthcare providers determine the amount of sodium chloride in your body. As a general rule of thumb, raised sodium chloride levels are a hallmark sign of cystic fibrosis. So many of you can expect a diagnosis based on that. When sweat tests alone aren’t enough to diagnose cystic fibrosis, your healthcare provider will do additional tests.

Genotype Testing

Did you know that there are over 1,500 genetic mutations that can result in cystic fibrosis? It’s true; 1,500 different mutations! So, gene testing or genotype tests are also used to diagnose your cystic fibrosis. Healthcare providers look for two condition-causing mutations because that’s typical for cystic fibrosis. So in many instances, a positive sweat test and two genetic mutations are enough to diagnose cystic fibrosis. But everyone with cystic fibrosis doesn’t have two mutations. Or the same signs or symptoms. We say that they have atypical cystic fibrosis. Diagnosing atypical forms of cystic fibrosis is a bit more challenging but not impossible. Healthcare providers take additional steps to come up with the appropriate diagnosis. 

Clinical Features

Healthcare providers look for the presence of one or more of these features when diagnosing your cystic fibrosis. Find out if you have one or more of the classic signs or symptoms. 

Related Conditions

Some conditions look a lot like cystic fibrosis but aren’t cystic fibrosis. Healthcare providers rule out one or more of these conditions to diagnose cystic fibrosis. These are some of the conditions they must consider. 

Pancreatic & Liver Function Tests

Cystic fibrosis affects different organ systems. Some of you have lots of organs involved, while others have few. Despite some variability in how it manifests, cystic fibrosis almost always affects the respiratory system, pancreas, and liver. 

Pancreatic tests can be part of the process to diagnose your cystic fibrosis. They help healthcare providers determine if you have pancreatic insufficiency. You may wonder why healthcare providers need that information. Pancreatic insufficiency is a serious condition where your body doesn’t make or use enough digestive enzymes. This causes digestive problems and contributes to the gastrointestinal issues many people with cystic fibrosis have. 

Liver tests are also part of the diagnostic process. Blood tests help healthcare providers determine the levels of your liver enzymes. Elevated levels could indicate a liver disease that’s common in people with cystic fibrosis. Imaging tests like CT scans, MRIs, and ultrasounds give healthcare providers a glimpse of your liver. They help them to determine any abnormalities which could point to liver disease. 

Chest Radiograph

Remember that cystic fibrosis is a condition that affects the respiratory system and lungs. So, chest radiographs are also used to diagnose cystic fibrosis. They help healthcare providers identify lung damage and determine how well your lungs function.

Chest radiographs alone aren’t enough to diagnose your cystic fibrosis. They don’t always show or account for the small changes in your lung functioning. But, they are a crucial piece of the puzzle when it comes to getting an accurate diagnosis.