Radiologists Look for Patterns in Cystic Fibrosis as More Adults Are Diagnosed

Recent research shows that there is an increasing number of adults being diagnosed with cystic fibrosis. This information is leading scientists to believe cystic fibrosis is now just as much of an adult condition as a childhood condition. This increase has caused scientists and radiologists to further examine new patterns of the disease.

Brief history of cystic fibrosis

Cystic Fibrosis was first documented in 1938 by a pathologist who called it “Cystic fibrosis of the pancreas”. This was based on autopsy findings of children who had passed away from malnutrition and it was concluded they had pancreas damage. Interestingly enough, there are actually medical records that mention the condition as far back as 1595, where again autopsies of newborns revealed salty skin and pancreas damage. It wasn’t until the late 1940s that it was discovered that the sweat of a child with CF contained a large amount of salt. Medical advances in the 1980s finally led to the discovery of the protein defect and a few years later the gene responsible for the disorder CFTR. The research on this condition has continued to grow and it has become very clear that yesterday's cystic fibrosis is nowhere near what it is today.

Cystic fibrosis today

When the disorder was first diagnosed back in the 1930s, the life expectancy of someone with cystic fibrosis was nowhere near what it is today. With the constant research efforts and development of new therapies, it is not uncommon for these patients to live well beyond their 40s. The registry at the CFF documents that there are more than 70,000 people living with cystic fibrosis in the world. They also indicate that more than half of those people are over the age of 18. That means that the majority of patients affected as a child are still alive and managing the illness.
The condition itself is no longer what it used to be. The Cystic Fibrosis Foundation has reported that there are over 1,700 current mutations of the disease. Some of these forms are very common and some are very rare. There are the classic forms of cystic fibrosis and non-classic variants. More research into the non-classic form will bring more answers to the ever-evolving illness. A recent study is reporting that 7% of the patients with this disorder are newly-diagnosed adults.

Testing for cystic fibrosis

In 2010, all hospitals in the United States implemented newborn screening for cystic fibrosis. This is done through a genetic test that shows the faulty CFTR gene or a blood test that tells doctors whether the child's pancreas is working properly. If those tests come back showing the potential of a positive diagnosis, then a sweat test is performed. That’s where the high salt level typically found in a cystic fibrosis patient’s sweat comes in. If the salt levels are high in two sweat tests done, a diagnosis is made. Doctors can also screen for the disorder by checking amniotic fluid of an unborn child prenatally if parents feel the child is at high risk. Carrier testing can be done as well.

A radiologist’s role

The rise in diagnosis of adults with rare forms of cystic fibrosis has caused radiologists to look closer at the disease occurrence patterns. Medical imaging plays an important role in not only helping to diagnose cystic fibrosis, but it also helps in the treatment. If other tests are inconclusive it is a way to see what systems are affected in a patient. Chest x rays are used to evaluate the lungs for things like scarring. A CT scan can be used for a very detailed look at the lungs or a patients intestines. Recent studies in adult cases found that recurring pancreatitis, chronic sinusitis, and CBAVD were all common identifiers in adult cystic fibrosis. Researchers are now calling on radiologists to understand the wide spectrum of the disorder. X rays and scans will be a close way to monitor progression and response to treatment in this new group of adult patients.

Complexity of diagnosis in adults

United States hospitals in all fifty states perform screenings on newborn babies for cystic fibrosis. It is a genetic disorder, but neither mom or dad need to have the condition; they can be a carrier of the gene responsible. If both parents are carriers, the chances the child will have cystic fibrosis go up dramatically. Testing is available for parents that wish to know if they are at risk of passing this to an unborn child. Cystic fibrosis is typically a multi-system disease, meaning it affects multiple regions of the body such as the lungs and pancreas. Patients with this form tend to suffer a more difficult time with the disorder. They typically show more issues with respiratory, digestive, and reproductive systems. Other manifestations of the disease present in single organs (Atypical CF), which is where discovering the disorder as an adult seems to make more sense.

Newborn screenings didn’t start in the United States until 2010. If a patient had no alarming symptoms as a child and no family history of the disease, why would it be considered as a diagnosis until they become ill enough? The other factor is that screenings are useful for specific forms of cystic fibrosis. The symptoms in some adult cases present in what seems as simple as a recurring sinus infection. It can also cause pancreatitis in these adult patients. A forty-year-old man showing up in the ER with pancreatitis is certainly not going to raise suspicions of cystic fibrosis as a final diagnosis.

As the typical patterns and forms of the disorder changes, physicians need to get on board with the changes as well. They need to recognize that a patient may not present with the typical symptoms of cystic fibrosis anymore. If a person is experiencing a sudden onset of certain symptoms, doctors need to be more willing to screen for the disorder.

The majority of adult cases are people who were sick their entire lives and it just wasn’t suspected that they had cystic fibrosis. In other cases, either the patient or family members did have suspicions, but getting physicians to agree with the idea was a battle on its own. One woman shared her story in a guest blog on Scientific America. She was finally diagnosed with cystic fibrosis at the age of 33 after going from physician to physician. She was ill most of her life and had many of the common symptoms associated with cystic fibrosis. She was the daughter to two medical researchers who argued with doctors themselves, due to an inconclusive sweat test, and no one was listening. She suffered many of the symptoms with the exception of damage to the pancreas and liver. You can read more about her story here: https://blogs.scientificamerican.com/guest-blog/better-late-than-never-on-being-diagnosed-with-cystic-fibrosis-at-33/

An internet search will lead to forums of newly diagnosed adult patients. The commonality among most of them was that the doctors simply did not suspect cystic fibrosis. One woman was diagnosed at the age of 50. She had repeat infections of her lungs and sinuses that doctors believed were due to allergies and asthma. There are countless other stories of people with mild illness that never went away and it ultimately ended with a diagnosis of cystic fibrosis.
Are some physicians too busy going by the book? If so, this needs to change in order to properly care for the growing population of adults affected.

Reference

https://www.sciencedaily.com/releases/2017/07/170726161136.htm