When to suspect atypical cystic fibrosis
Not all patients with cystic fibrosis have abnormal sweat chloride levels, severe lung disease, or failure to thrive. These 2 cases remind us to think “outside the box.”
Unfortunately, over the last few years, Lauren’s lung function has declined and she has been hospitalized for cystic fibrosis exacerbations and sinusitis; she has had 3 additional episodes of acute pancreatitis. Although her FEV1 is lower than on initial evaluation, she is clinically stable.
CASE 2: Zack
Clinically, Zack is stable and his recent amylase and lipase are elevated at 92 U/L and 71 U/L, respectively. He has had no acute exacerbations.
Patients like Lauren and Zack serve to remind us of the need to recognize and closely monitor patients with nonclassic cystic fibrosis. These patients may come to the office with “asthma-like” symptoms, bronchitis, polyps, pancreatitis, cholelithiasis, constipation, abdominal bloating/flatus, and infertility. Because their symptoms may not be severe enough to be referred to a subspecialist, family physicians play a critical role in recognizing these overlooked cases early on.
CORRESPONDENCE Anupama Chawla, MD, Director, Division of Pediatric Gastroenterology and Nutrition, Stony Brook University Hospital, Stony Brook, NY 11794; anchawla@notes.cc.sunysb.edu
