Call Us: 800.658.6046

Cystic Fibrosis & Adult Diagnosis

Wed, 12/23/2015 - 15:29 -- IV Solutions

Cystic fibrosis is classically a pediatric disease. This means that it presents and is diagnosed in infancy. Until fairly recently, cystic fibrosis would never be considered a diagnostic option for an adult presenting CF related symptoms. This is due to the fact that historically, untreated cystic fibrosis resulted in early mortality.

However, recent occurrences have manifested where cystic fibrosis has been diagnosed in adulthood. It usually involves unique mutations of the CFTR and can present itself in a number of ways.

Due to the rigorous assessment of cystic fibrosis in children who are susceptible to cystic fibrosis, it is very uncommon for a case to go undiagnosed into adulthood. This type of case is almost always presented as atypical cystic fibrosis which presents milder to very few symptoms and is genetically distinct from the most common CFTR mutations.

Genetic testing has been estimated to be inconclusive in 15% of patients with CF due to the number of mutations. Tests will be comprehensively administered in patients who are at risk for CF and have parents who are carriers.

So you can see that the number of cases where a child with atypical cystic fibrosis goes undiagnosed is very small and only occurs in instances where they are already determined to be at low risk for inheriting CF.


Pathways of Cystic Fibrosis & Adult Diagnosis

Asymptomatic

This category mostly consists of people who are generally healthy before some type of sudden CF related problem manifests. This could be a respiratory infection, fertility issues, or a digestive problem. This group can even be diagnosed by having children with cystic fibrosis.

Suspicious for cystic fibrosis

This category may have been suspicious that they had cystic fibrosis, especially with modern internet and self diagnostic tools. They might be confused that cystic fibrosis is diagnosed in childhood and wonder why their search results continue to point towards it. The mildness of their symptoms are the cause for this late diagnosis.

Mildly symptomatic

This is the category of people who have had mild unexplained symptoms throughout their life and may often visit the doctor because of them. It can be surprising to learn that what was a collection of mild symptoms has turned out to be something more serious, but this group of people are often relieved to have an explanation and treatment options for the health problems they’ve been experiencing through their lives.

Symptomatic

This is a category of people who probably have had a history of chronic health problems that were all individually diagnosed. These could include respiratory problems that may be classified as asthma, digestive problems that may be classified as IBS, and sinus problems that may be attributed to allergies. This category generally sees a much improved quality of life after beginning a treatment track and managing their symptoms.


Impact of Late Diagnosis

Though some patients may have suffered damage from such a late diagnosis, the majority of atypical cases present milder symptoms that improve the prognosis. It may be difficult to fit treatment into your already established life, but patients usually find that the increase in quality of life that they feel is worth finding the time for managing their symptoms.

Educating the adult diagnosed patient on how to incorporate symptom management into their lifestyle is the most important step. Your lifestyle changes are generally limited to beginning treatment and management therapies and keeping an infection controlled household. Many people find that joining support groups can help them through their transition.


Learn more about Cystic Fibrosis with us

Cystic Fibrosis Symptoms

Understanding the symptoms of cystic fibrosis is the first step in effective treatment. Read more about the symptoms, management, and preventing further complications.

Cystic Fibrosis Diet

There are many negative symptoms that cystic fibrosis can have on the digestive system. People with cystic fibrosis need to keep up with daily treatment and pay close attention to their diet. Learn about the foods and dietary habits that help people with cystic fibrosis lead healthier lives.

Cystic Fibrosis Treatments

Daily treatment is necessary for the proper management of cystic fibrosis. Learn more about the best methods for managing symptoms, medications and non medicinal suggestions.

CF & Common Complications

There are a few common complications that are associated with cystic fibrosis. These affect the respiratory and digestive systems, the sinuses, and can even affect blood sugar. Learn more about the general symptoms of cystic fibrosis and some of the best ways to manage them.


REFERENCES:

Late Diagnosis. Cystic Fibrosis Canada. June 20, 2014. Accessed Sept 21, 2015

Newly diagnosed cystic fibrosis in middle and later life. Hunt & Geddes. Sept 28, 1984. Accessed Sept 21, 2015

Cystic fibrosis diagnosed at age 45 based on symptoms of acute pancreatitis. PMC. Jan 21, 2009. Accessed Sept 21, 2015

Atypical cystic fibrosis. Canadian Family Physician. Dec 13, 2012. Accessed Sept 21, 2015

Manifestations of Cystic Fibrosis Diagnosed in Adulthood. Medscape. July 25, 2013. Accessed Sept 21, 2015

Late Diagnosis. Cystic Fibrosis Education. Accessed Sept 21, 2015