Hepatocellular carcinoma on top of cystic fibrosis related liver disease: A deadly combination
Kelly Foley-Friel, Radiology Crumlin Children’s Hospital, Republic of Ireland
Background
Cystic fibrosis is defined as an autosomal recessive disorder caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. It is a progressive disease process resulting in irreversible respiratory damage. Cystic fibrosis associated liver disease (CFLD) is progressive liver disease in these patients. It is presumed the CFTR protein on the surface of cholangiocytes is impaired resulting in inspissated bile. This ultimately leads to biliary obstruction resulting in fibrosis and cirrhosis of the liver.
Case report
A 16-year-old female patient with trisomy 21 and cystic fibrosis attended the ultrasound department. The patient had no surveillance scan performed since 2012, even though there were extensive hepatobiliary manifestations of the disease previously documented. Using a curvilinear 5-1 MHz transducer in conjunction with a linear 13-5 MHz, an abdominal scan was performed. Ultrasonography of the liver revealed a course heterogeneous echotexture associated with a nodular capsule and periportal fibrosis. Doppler studies illustrated portal hypertension in conjunction with recanalisation of the para umbilical vein. A suspicious hyperechoic lesion measuring 14.3x13 cm was detected within the right lobe. As a result of the sonographic findings, an MRI liver and CT Thorax were subsequently performed which revealed a 4x4cm lung lesion. A CT guided lung biopsy was carried out. Based on histology results, the patient was diagnosed with metastatic HCC and her condition was palliative.
Discussion
Ultrasound can be used as a baseline tool to diagnose and monitor progression of CFLD. A course heterogeneous nodular liver leads to difficulties in the detection of hepatocellular carcinoma. It is relatively cheap, quick and easy to perform but with the known limitation of operator dependency. Published guidelines recommend annual ultrasound surveillance for CF patients to detect hepatobiliary manifestations. However, a lack of interval ultrasound imaging led to a very poor prognosis for this patient.