Atrophic-appearing Pancreas on Magnetic Resonance Cholangiopancreatography as Initial Presentation of Cystic Fibrosis

Abstract

Cystic fibrosis is an autosomal recessive disease typically diagnosed in early childhood secondary to pulmonary manifestations. We present the unusual case of a 20-year-old man being diagnosed with cystic fibrosis after he was incidentally noted to have an atrophic pancreas on magnetic resonance cholangiopancreatography. He had no sign of chronic pancreatitis or symptoms of exocrine pancreatic insufficiency. As pancreatic atrophy is rare in young adults, the patient was evaluated for cystic fibrosis by genetic testing and the patient was noted to have the deltaF508 and p.R347L mutations of the cystic fibrosis transmembrane receptor. The patient was counseled on the implications of these findings for his potential children, but no treatment was undertaken at this time.

Introduction

Pancreatic atrophy is typically seen in elderly patients or those patients who have sequelae of chronic pancreatitis. It is rare to diagnose atrophic pancreas in young patients¹ and to date there are less than 10 published cases of initial diagnosis of cystic fibrosis secondary to pancreatic dysfunction. The majority of patients with cystic fibrosis present with respiratory symptoms in early childhood. It is not until later in life that they develop gastrointestinal manifestations of their disease. Of the gastrointestinal manifestations documented, pancreatic insufficiency is the most common and well recognized.² The following case report adds to the growing clinical experience with this atypical presentation of cystic fibrosis.

Case Presentation

A 20-year-old man presented with epigastric abdominal pain and nausea. He had multiple episodes of similar symptoms previously and was diagnosed with symptomatic cholelithiasis. He underwent an uneventful laparoscopic cholecystectomy. However, on post-operative day 10, he developed recurrent symptoms. At that time, he was afebrile, with otherwise normal vital signs. He was tolerating a regular diet without nausea or vomiting. His examination was notable for epigastric tenderness to palpation without rebound tenderness or guarding.

On laboratory examination he was found to have an elevated lipase of 1833 units/L along with an elevated alkaline phosphatase of 224 units/L (peak), alanine aminotransferase of 255 units/L (peak), and aspartanine aminotransferase of 187 units/L (peak). There is no report of elevated lipase levels prior to the onset of the initial presentation. Magnetic resonance cholangiopancreatography (MRCP) was obtained, which showed no dilation or filling defects in the common bile duct, but the pancreas was poorly visualized secondary to fatty infiltration consistent with an atrophic pancreas. No calcifications, pancreatic ductal dilation, or peripancreatic fluid collections were noted (see Figures 2–4).

Figure 2.

Axial 2D Fiesta fat-sat MRCP sequence image demonstrating poor visualization of the pancreas indicative of fatty infiltration (white arrow)

Figure 4.

Coronal 2D Fiesta fat-sat MRCP sequence image significant for atrophic-appearing pancreatic body and tail (white arrow)

Due to his atrophic-appearing pancreas, young age, and lack of findings consistent with chronic pancreatitis, genetic counseling was obtained and the patient was tested for mutations in the cystic fibrosis transmembrane receptor (CFTR). This patient was found to be heterozygous for both the deltaF508 and p.R347L mutations of the CFTR. This combination of mutations is expected to cause cystic fibrosis if they are located on different chromosomes. The patient was counseled on the reproductive implication of his CFTR mutations. Based on the patient's lack of symptoms, no treatment was initiated at that point. He has since done well without recurrent symptoms and he recovered from his pancreatitis with only supportive care.

Discussion

Pancreatic atrophy is commonly seen in elderly patients and may also be a sequela of chronic pancreatitis. However, in this young patient without other imaging evidence to suggest chronic pancreatitis (pancreatic calcifications, ductal dilation, or pseudocysts), cystic fibrosis was suspected. Shwachman-Bodian-Diamond syndrome, a syndrome characterized by exocrine pancreatic insufficiency, malabsorption, short stature, and bone marrow dysfunction, would be a consideration in children.³

Cystic fibrosis is an autosomal recessive disease that is secondary to reduced expression of CFTR.¹ Diagnosis is typically at a young age with the majority of patients suffering from pulmonary complications. However, this case illustrates that cystic fibrosis may be diagnosed in adult patients, especially when the disease is mild. In addition to the pulmonary complications of cystic fibrosis, there are multiple known gastrointestinal complications which include rectal prolapse, intussusceptions, colonic stricture, pancreatic insufficiency, and chronic cholestatic liver disease.² Approximately 85–90% of patients with cystic fibrosis develop pancreatic manifestations.¹ Pancreatic dysfunction develops secondary to mucous accumulation in ducts throughout the pancreas with exocrine gland atrophy developing from blockage of larger ducts. MRI evidence of atrophy is characterized by fatty infiltration or fibrosis of the pancreas.^4,5

Based on the patient's lack of symptoms, no treatment was initiated. If he developed signs of exocrine pancreatic insufficiency, treatment with pancreatic enzyme replacement would be warranted.

Figure 1.

Normal appearing pancreas (white arrow) on axial T2 MRI image

Figure 3.

Pancreatic body and tail atrophy (white arrow) as seen on coronal thin slab MRCP asset sequence image showing

Conflict of Interest

The authors report no conflict of interest.

Disclosure Statement

Funding sources: none