Researchers from Iran reported the case of a patient with a history of medullary thyroid carcinoma (MTC) who had progressively increased liver enzymes and a cholestatic pattern.

The patient was evaluated by a multidisciplinary team of hepatologists, oncologists, radiologists, and pathologists and diagnosed with antimitochondrial autoantibodies-negative primary biliary cholangitis. She was treated with glucocorticoids.

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“In this case, we highlighted the importance of a multidisciplinary team approach consist[ing] of healthcare professionals from different fields to determine the diagnosis and treatment plan in patients with an unusual manifestation of disease,” the researchers wrote in a report that they published in the journal BMC Endocrine Disorders.

The case was that of a 48-year-old female who presented to the hospital in 2014 with thyroid nodules on both sides. She underwent fine needle aspiration and was suspected of having MTC. She had elevated serum calcitonin levels (CEA), a biomarker of MTC, and underwent total thyroidectomy and neck lymph node dissection.

She was diagnosed with right lobe MTC with no vascular invasion or lymph node involvement. 

She was followed up regularly. Her levels of calcitonin and carcinoembryonic antigen, another marker of MTC, were undetectable. She also underwent repeated cervical ultrasounds until 2021, which were normal. 

However, in 2016, her liver enzymes became high, and she was evaluated by a gastroenterologist. She underwent an abdominopelvic ultrasound, which showed a coarse echo pattern of the liver parenchyma but normal bile ducts. She also underwent a liver fibroscan, which revealed a low fibrosis score. 

She was given ursodeoxycholic acid treatment, but her liver enzymes continued to rise, and in 2020, she had another liver biopsy. This revealed the presence of tiny nests of neuroendocrine-like cells with a background of primary biliary cholangitis. Immunohistochemical staining was positive for the tumor markers chromogranin A and synaptophysin but negative for calcitonin, CEA, and thyroglobulin, another tumor marker. Moreover, imaging tests showed no neuroendocrine tumors, and the patient was diagnosed with primary biliary cholangitis and managed accordingly.


Rahmani F, Tohidi M, Azmoudeh-Ardalan F, Sadeghi A, Hadaegh F. Diagnostic dilemma in a patient with [a] history of medullary thyroid carcinoma and abnormal serum liver enzymes; a case report with six years follow up. BMC Endocr Disord. Published online August 30, 2023. doi:10.1186/s12902-023-01439-7