Author: Dr. Catherine Buckley
Based on a simulation case discussion led by Dr. Michelle Hughes, let’s talk about Cystic fibrosis (CF) from an emergency medicine stand point.
Briefly- CF is an autosomal recessive disease that is caused by mutations in the CFTR channel which prevents Cl- from being secreted. Without the normal levels of Cl-, secretions become more viscus than normal. Obviously we think about pulmonary secretions. But this affects secretions all over the body (sinuses, pancreas, biliary, intestinal, sweat.)
Pulmonary Exacerbations
The reason why we most often think about pulmonary issues in CF patient’s is because 85% of CF patient mortality is from pulmonary disease. Frequently, already colonized bacteria will take advantage of the viscous secretions and overgrow- causing what we call pulmonary exacerbations. Typically this will look like respiratory distress + decrease in PFTs. At person with CF will likely undergo recurrent pulmonary exacerbations, each one can worsen their baseline function. The earlier that the exacerbation is treated, the slower the decline in their lung function will be.
Treatment will include bronchodilators, nebulized saline(7%), Non-invasive ventilation (if needed), steroids (only if significant wheezing), and of course, Antibiotics! If you are lucky enough to know this patient’s personal antibiogram from previous cultures and sensitivities then by all means ignore the next sentence. Typical bugs need to be covered: such as S.aureus, H. influenza (Augmentin) and, the big one, Pseudomonas (Ciprofloxacin oral, Aminogylcoside IV) Treatment should be about 2 weeks. (1) The medications will have to be VERY high compared to normal, look it up. Though there has been a movement to only admit for the most severe exacerbations AND to give IV medicines at home, there is not sufficient evidence to say that at home IV treatment is equivalent. (2.)
So instead of giving you over arching advice, I’d instead suggest a case by case decision making process… which I presume you are doing no matter what I write on our lovely little blog. You should know though, these exacerbations can result in a spontaneous pneumothorax so make sure you keep your eyes open and double check that XRay.
GI disease
CF patients are high risk for recurrent obstructions, volvulus, abdominal pain etc. Why you ask? Because of stool changes secondary to abnormal pancreatic secretions, biliary secretions and decreased water content in the feces – all causing thick, dry stool and decreased motility. Specifically this stool causes problems in the ileocecal junction (making high risk for intussussecption as well!) and in the distal intestines. On top of this, CF patients are 12x more likely than the general population to develop Crohn’s disease. (3) As much as we like to avoid scans in young patients, CF young adults may have more concerning etiologies for their pain and therefore may need the imaging.
Most CF patients have exocrine pancreatic issues- causing malabsorbtion of protein, fat and therefore those fat-soluble vitamins (A,D,E,K.) This can lead to further stool changes, weight loss and mal-nutrition. People with CF are also at a higher risk of idiopathic pancreatitis. And most develop diabetes in their third or so decade. Liver disease is also extremely common and sadly a common cause of death. (3)
At this point it sounds like I am simply listing every possible issue in the book, some of which might not come into play in the emergency department. CF patient’s will be complicated and if it is an option- disposition and work up should be planned in close conjuncture with their primary care physician.
Now another reason why I list all these issues comes into play below….
Undiagnosed
So although recessive, this disease is not as rare as one would think- representing about 1 in 3200 Caucasian births (but is not limited to caucasions). And as of 2017, only 58.4% of known CF cases were diagnosed during their newborn screenings. Instead the mean age of diagnosis is 4 years old! ( 1) So if you see a young child with recurrent pulmonary infections, frequent sinus infections, significant constipation or meconium ileus – keep CF on your differential. Definitely be concerned if you see the telltale digital clubbing. Though you may not be the one running the tests, sending them to proper follow up can help diagnose them earlier rather than later. This can help decrease long term effects of their disease process.
Citations
- Cystic Fibrosis Foundation Patient Registry: Annual Data Report to the Center Directors, 2017. https://www.cff.org/Research/Researcher-Resources/Patient-Registry/2017-Patient-Registry-Annual-Data-Report.pdf Accessed on March 6, 2020.
- Flume, P. Mogayzel, P. Robinson, K. Goss, C, Roseblatt,R. Kuhn, R. Marshall, B. the Clinical Practice Guidelines for Pulmonary Therapies Committee. Cystic Fibrosis Pulmonary Guidelines Treatment of Pulmonary Exacerbations. American Journal of Respiratory and Critical Care Medicine. 2008; 180(9): 802-808
- Grossheim, L. Gates, K. Emergency Department Care of Cystic Fibrosis Patients. Emergency Medicine Reports. https://www.reliasmedia.com/articles/11691-emergency-department-care-of-adult-cystic-fibrosis-patientsPublished online: April 27, 2008, Accessed on March 7, 2020.