Working Diagnosis:
Metastatic Intrahepatic Cholangiocarcinoma
Intrahepatic cholangiocarcinoma is a rare and aggressive cancer of the epithelial cells of the small bile ducts in the liver. Cholangiocarcinomas are the second most common primary liver cancer, following hepatocellular carcinoma. Only 5-10% of cholangiocarcinomas are intrahepatic, however its incidence has increased in the past three decades. Prognosis is usually poor due to the aggressive nature of the disease and advanced state at presentation. Typical symptoms for intrahepatic cholangiocarcinoma include abdominal pain (specifically RUQ), unintentional weight loss, and elevated alkaline phosphatase. Some patients are asymptomatic and diagnosis is made as an incidental finding on imaging ordered for another purpose.
Treatment:
PET/CT scan showed multiple lesions in the liver, peritoneum, and bone. She underwent CT guided liver biopsy for final diagnosis of adenocarcinoma, primary cholangiocarcinoma.
She started chemotherapy with cisplatin, gemcitabine, durvalumab, and Zometa.
Outcome:
Subsequent CT scans have shown improvement in the metastatic disease. She continues palliative care with goals of improving survival and maintaining quality of life.
Author's Comments:
This patient presented with the classic signs and symptoms of lumbar radiculopathy, typically due either to herniated lumbar disc or lumbar stenosis. Her initial response to traditional lumbar radiculopathy treatment (such as anti-inflammatory medications, oral steroids, and physical therapy) was also in line with a degenerative cause for her radicular symptoms. The MRI of the lumbar spine was the first indication that her symptoms were not due to typical causes of lumbar radiculopathy, and biopsy later specified the type of metastatic cancer causing her symptoms. An important teaching point from this case is that the utility of advanced imaging may extend beyond its initial intended purpose. In this instance, imaging was obtained to localize the level of disc herniation or nerve root impingement, but it also revealed an unexpected diagnosis that altered clinical management. When a patient's presentation is atypical or symptoms fail to respond completely to standard treatment, clinicians should have a low threshold to pursue advanced imaging, additional laboratory evaluation, or other appropriate diagnostic testing. Proceeding with the next appropriate investigative step in a timely manner may identify alternative or concurrent pathology, exclude atypical causes of common diagnoses, and ensure that the diagnosis has been thoroughly established before continuing treatment.
Editor's Comments:
Most patients presenting to sports medicine clinics with lumbar radiculopathy have benign degenerative pathology, such as lumbar disc herniation or spinal stenosis. However, clinicians must continually reassess the working diagnosis when symptoms evolve or fail to respond as expected. In this case, the patient's migration of symptoms from the right to the left lower extremity, persistent pain despite multiple therapies, and prolonged reliance on corticosteroids appropriately prompted advanced imaging. Although obtained to evaluate for compressive neuropathy, lumbar MRI instead revealed widespread osseous metastatic disease, necessarily changing the diagnostic evaluation and subsequent management. While uncommon, metastatic disease should remain within the differential diagnosis for patients with persistent or atypical radicular symptoms, even in the absence of constitutional symptoms or a known history of malignancy. This case underscores the importance of maintaining a broad differential diagnosis and recognizing when failure of expected clinical improvement warrants timely escalation of the diagnostic work-up.
References:
1. Bridgewater J, Galle PR, et al. Guidelines for the diagnosis and management of intrahepatic cholangiocarcinoma. J Hepatol. 2014 Jun;60(6):1268-89. Epub 2014 Mar 27. PMID: 24681130.
2. Moris D, Palta M, et al. Advances in the treatment of intrahepatic cholangiocarcinoma: An overview of the current and future therapeutic landscape for clinicians. CA Cancer J Clin. 2023 Mar;73(2):198-222. Epub 2022 Oct 19. PMID: 36260350.
3. Hanna JA, Mathkour M, et al. Cholangiocarcinoma Metastasis to the Spine and Cranium. Ochsner J. 2020 Summer;20(2):197-203. PMID: 32612476.
Return To The Case Studies List.