A 16‐year‐old female lifeguard presented with a 2‐day history of black stools, diarrhea, abdominal pain, and lightheadedness. She noted easy bruising and frequent nosebleeds but denied fever, nausea, vomiting, or respiratory symptoms. In the preceding year she had complained of chronic abdominal pain that had worsened in the past 3 months and was associated with an 8‐kg weight loss. Exam revealed a well‐appearing girl with mild tachycardia and a normal cardiopulmonary exam. She was tender in the RUQ without rebound or guarding. Labs were significant for WBC 4.0, hemoglobin 8.3, platelets 73. She had an enlarged nodular liver and splenomegaly on ultrasound. Upper endoscopy revealed esophageal varices without active bleeding. Lab worttup for infectious hepatitis, autoimmune hepatitis, Wilson disease, primary sclerosing cholangitis, and alpha‐1‐antitrypsin deficiency was negative. A liver biopsy was performed which confirmed the diagnosis of cirrhosis. One week after discharge, she returned with dyspnea and bilateral infiltrates on chest film, which prompted sweat testing for cystic fibrosis. Sweat test and follow‐up genetic testing confirmed a diagnosis of cystic fibrosis (delta F50B/A455E mutation).
This is a case of previously unknown cystic fibrosis (CF) presenting with esophageal varices and pancytopenia/hypersplenism because of cirrhosis and subsequent portal hypertension. The lack of pulmonary signs and symptoms and her presumed normal lung capacity, as evidenced by her ability to work as a lifeguard, was deemed adequate to rule‐out an underlying diaynosis of CF. lf she had net returned with a pulmonary complaint shortly after her hospitalization, it is likely that a sweat test would not have been done, further delaying her diagnosis. This is a unique presentation of CF. and The diagnosis was initially missed despite that CF and its manifestations are commonly encountered by pediatric hospitalists. Fewer than 1% of CF patients will present with liver disease as the initial manifestation of their illness, although at least 30% of patients will eventually develop liver disease, and 6% will have clinically significant portal hypertension during the course of the disease. The few who do present with signs of liver disease are more likely to be younger with a more severe genotype than our patient (A455E mutation is associated with a mild phenotype). Even among CF patients with known cirrhosis, the development of esophageal varices is rare. However, early diagnosis of liver disease is crucial, as emerging evidence suggests that early treatment prevents progression of liver disease but is ineffective in established cirrhosis.
The majority of CF patients present with respiratory complaints, but this case demonstrates that CF is a multisystem disease that can present in a variety of ways. Therefore, CF should be considered in any young patient with liver abnormalities of unclear etiology.
H. Hoar, none.